Incidental Mutation 'R5982:Col12a1'
ID 481463
Institutional Source Beutler Lab
Gene Symbol Col12a1
Ensembl Gene ENSMUSG00000032332
Gene Name collagen, type XII, alpha 1
Synonyms
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # R5982 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 79506273-79626113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79537842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2542 (V2542A)
Ref Sequence ENSEMBL: ENSMUSP00000112604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071750] [ENSMUST00000121227]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071750
AA Change: V2542A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: V2542A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 25 103 2.29e-10 SMART
low complexity region 114 129 N/A INTRINSIC
VWA 138 317 4e-63 SMART
FN3 334 413 1.47e-8 SMART
VWA 438 617 2.41e-57 SMART
FN3 632 710 1.62e-10 SMART
FN3 723 801 2.91e-12 SMART
FN3 814 892 6.05e-10 SMART
FN3 905 984 2.74e-8 SMART
FN3 995 1074 1.24e-6 SMART
FN3 1087 1166 5.78e-7 SMART
VWA 1197 1376 2.02e-59 SMART
FN3 1385 1463 1.13e-9 SMART
FN3 1474 1554 1.07e-10 SMART
FN3 1566 1643 3.73e-10 SMART
FN3 1655 1734 2.94e-8 SMART
FN3 1755 1834 1.54e-11 SMART
FN3 1846 1924 1.45e-7 SMART
FN3 1936 2015 1.47e-8 SMART
FN3 2027 2106 1.21e-9 SMART
FN3 2118 2195 2.14e-10 SMART
FN3 2206 2285 3.85e-3 SMART
low complexity region 2292 2314 N/A INTRINSIC
VWA 2323 2503 2.61e-53 SMART
TSPN 2522 2714 1.13e-76 SMART
Pfam:Collagen 2747 2804 1.7e-8 PFAM
Pfam:Collagen 2802 2855 6.5e-9 PFAM
Pfam:Collagen 2844 2904 1.1e-9 PFAM
Pfam:Collagen 2939 2994 4.6e-8 PFAM
low complexity region 3011 3044 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121227
AA Change: V2542A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: V2542A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 25 103 2.29e-10 SMART
low complexity region 114 129 N/A INTRINSIC
VWA 138 317 4e-63 SMART
FN3 334 413 1.47e-8 SMART
VWA 438 617 2.41e-57 SMART
FN3 632 710 1.62e-10 SMART
FN3 723 801 2.91e-12 SMART
FN3 814 892 6.05e-10 SMART
FN3 905 984 2.74e-8 SMART
FN3 995 1074 1.24e-6 SMART
FN3 1087 1166 5.78e-7 SMART
VWA 1197 1376 2.02e-59 SMART
FN3 1385 1463 1.13e-9 SMART
FN3 1474 1554 1.07e-10 SMART
FN3 1566 1643 3.73e-10 SMART
FN3 1655 1734 2.94e-8 SMART
FN3 1755 1834 1.54e-11 SMART
FN3 1846 1924 1.45e-7 SMART
FN3 1936 2015 1.47e-8 SMART
FN3 2027 2106 1.21e-9 SMART
FN3 2118 2195 2.14e-10 SMART
FN3 2206 2285 3.85e-3 SMART
low complexity region 2292 2314 N/A INTRINSIC
VWA 2323 2503 2.61e-53 SMART
TSPN 2522 2714 1.13e-76 SMART
Pfam:Collagen 2747 2804 4.7e-9 PFAM
Pfam:Collagen 2802 2861 2.9e-9 PFAM
Pfam:Collagen 2838 2900 7.1e-8 PFAM
Pfam:Collagen 2935 2990 1.3e-8 PFAM
low complexity region 3007 3040 N/A INTRINSIC
Meta Mutation Damage Score 0.2825 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Col12a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Col12a1 APN 9 79,588,819 (GRCm39) missense possibly damaging 0.55
IGL00434:Col12a1 APN 9 79,560,614 (GRCm39) missense probably benign 0.27
IGL00465:Col12a1 APN 9 79,604,863 (GRCm39) missense probably damaging 1.00
IGL00568:Col12a1 APN 9 79,558,759 (GRCm39) missense probably damaging 1.00
IGL00576:Col12a1 APN 9 79,554,934 (GRCm39) missense probably damaging 1.00
IGL00580:Col12a1 APN 9 79,599,508 (GRCm39) missense probably benign 0.05
IGL01015:Col12a1 APN 9 79,541,023 (GRCm39) missense probably damaging 1.00
IGL01124:Col12a1 APN 9 79,611,129 (GRCm39) missense probably damaging 1.00
IGL01138:Col12a1 APN 9 79,585,335 (GRCm39) missense probably damaging 1.00
IGL01295:Col12a1 APN 9 79,551,208 (GRCm39) missense probably damaging 1.00
IGL01630:Col12a1 APN 9 79,564,648 (GRCm39) missense probably damaging 1.00
IGL01648:Col12a1 APN 9 79,508,451 (GRCm39) makesense probably null
IGL01878:Col12a1 APN 9 79,557,257 (GRCm39) missense possibly damaging 0.72
IGL01921:Col12a1 APN 9 79,557,299 (GRCm39) missense possibly damaging 0.50
IGL02064:Col12a1 APN 9 79,599,654 (GRCm39) missense probably benign 0.06
IGL02123:Col12a1 APN 9 79,569,740 (GRCm39) critical splice donor site probably null
IGL02312:Col12a1 APN 9 79,588,797 (GRCm39) missense probably damaging 1.00
IGL02320:Col12a1 APN 9 79,523,303 (GRCm39) critical splice donor site probably null
IGL02328:Col12a1 APN 9 79,589,348 (GRCm39) missense probably damaging 1.00
IGL02342:Col12a1 APN 9 79,557,178 (GRCm39) splice site probably null
IGL02355:Col12a1 APN 9 79,537,993 (GRCm39) splice site probably benign
IGL02362:Col12a1 APN 9 79,537,993 (GRCm39) splice site probably benign
IGL02396:Col12a1 APN 9 79,569,865 (GRCm39) missense probably benign
IGL02449:Col12a1 APN 9 79,548,751 (GRCm39) missense probably damaging 1.00
IGL02682:Col12a1 APN 9 79,606,623 (GRCm39) missense probably damaging 1.00
IGL02751:Col12a1 APN 9 79,521,141 (GRCm39) unclassified probably benign
IGL02801:Col12a1 APN 9 79,515,696 (GRCm39) splice site probably null
IGL03001:Col12a1 APN 9 79,540,955 (GRCm39) missense probably damaging 1.00
IGL03027:Col12a1 APN 9 79,548,833 (GRCm39) missense probably benign 0.40
IGL03090:Col12a1 APN 9 79,585,652 (GRCm39) missense probably damaging 1.00
IGL03115:Col12a1 APN 9 79,588,719 (GRCm39) missense probably damaging 1.00
IGL03220:Col12a1 APN 9 79,606,765 (GRCm39) missense probably damaging 1.00
IGL03240:Col12a1 APN 9 79,585,665 (GRCm39) splice site probably null
IGL03348:Col12a1 APN 9 79,600,712 (GRCm39) missense possibly damaging 0.88
airship UTSW 9 79,613,619 (GRCm39) missense possibly damaging 0.65
dirigible UTSW 9 79,611,111 (GRCm39) missense possibly damaging 0.73
Feast UTSW 9 79,607,544 (GRCm39) missense probably benign 0.00
hardly UTSW 9 79,607,632 (GRCm39) nonsense probably null
hearty UTSW 9 79,551,248 (GRCm39) missense probably damaging 1.00
Hefty UTSW 9 79,569,736 (GRCm39) splice site probably benign
P0045:Col12a1 UTSW 9 79,554,893 (GRCm39) missense probably damaging 0.99
PIT4260001:Col12a1 UTSW 9 79,558,662 (GRCm39) critical splice donor site probably null
PIT4280001:Col12a1 UTSW 9 79,585,387 (GRCm39) missense probably damaging 1.00
R0015:Col12a1 UTSW 9 79,558,667 (GRCm39) missense probably damaging 1.00
R0015:Col12a1 UTSW 9 79,558,667 (GRCm39) missense probably damaging 1.00
R0240:Col12a1 UTSW 9 79,559,315 (GRCm39) missense probably benign 0.02
R0276:Col12a1 UTSW 9 79,538,023 (GRCm39) nonsense probably null
R0309:Col12a1 UTSW 9 79,507,293 (GRCm39) splice site probably null
R0336:Col12a1 UTSW 9 79,609,627 (GRCm39) missense probably damaging 0.98
R0376:Col12a1 UTSW 9 79,600,776 (GRCm39) missense probably benign 0.10
R0413:Col12a1 UTSW 9 79,606,642 (GRCm39) missense probably damaging 0.99
R0504:Col12a1 UTSW 9 79,588,750 (GRCm39) missense possibly damaging 0.90
R0542:Col12a1 UTSW 9 79,512,610 (GRCm39) critical splice donor site probably null
R0610:Col12a1 UTSW 9 79,615,130 (GRCm39) missense probably benign
R0631:Col12a1 UTSW 9 79,610,658 (GRCm39) missense probably damaging 1.00
R0637:Col12a1 UTSW 9 79,564,017 (GRCm39) missense probably benign 0.00
R0667:Col12a1 UTSW 9 79,535,744 (GRCm39) missense probably damaging 1.00
R0711:Col12a1 UTSW 9 79,559,317 (GRCm39) missense probably damaging 1.00
R0717:Col12a1 UTSW 9 79,519,701 (GRCm39) missense probably damaging 1.00
R0762:Col12a1 UTSW 9 79,588,656 (GRCm39) splice site probably benign
R0787:Col12a1 UTSW 9 79,545,767 (GRCm39) missense probably damaging 0.99
R0890:Col12a1 UTSW 9 79,607,684 (GRCm39) missense probably damaging 0.97
R0900:Col12a1 UTSW 9 79,591,535 (GRCm39) missense possibly damaging 0.91
R1109:Col12a1 UTSW 9 79,607,005 (GRCm39) missense probably damaging 1.00
R1264:Col12a1 UTSW 9 79,527,371 (GRCm39) missense probably benign 0.09
R1321:Col12a1 UTSW 9 79,524,991 (GRCm39) nonsense probably null
R1344:Col12a1 UTSW 9 79,606,837 (GRCm39) nonsense probably null
R1387:Col12a1 UTSW 9 79,588,657 (GRCm39) splice site probably benign
R1511:Col12a1 UTSW 9 79,606,834 (GRCm39) missense probably benign 0.02
R1523:Col12a1 UTSW 9 79,568,278 (GRCm39) missense probably benign 0.01
R1526:Col12a1 UTSW 9 79,564,080 (GRCm39) missense probably benign 0.44
R1564:Col12a1 UTSW 9 79,521,122 (GRCm39) missense probably damaging 1.00
R1595:Col12a1 UTSW 9 79,509,536 (GRCm39) missense probably damaging 1.00
R1603:Col12a1 UTSW 9 79,520,244 (GRCm39) missense probably damaging 1.00
R1673:Col12a1 UTSW 9 79,600,820 (GRCm39) missense probably benign 0.00
R1730:Col12a1 UTSW 9 79,535,660 (GRCm39) missense possibly damaging 0.93
R1737:Col12a1 UTSW 9 79,610,733 (GRCm39) missense probably damaging 1.00
R1739:Col12a1 UTSW 9 79,540,750 (GRCm39) missense probably damaging 0.98
R1748:Col12a1 UTSW 9 79,580,279 (GRCm39) missense probably benign 0.01
R1778:Col12a1 UTSW 9 79,511,867 (GRCm39) splice site probably benign
R1845:Col12a1 UTSW 9 79,604,823 (GRCm39) missense probably benign 0.09
R1864:Col12a1 UTSW 9 79,534,385 (GRCm39) splice site probably null
R1876:Col12a1 UTSW 9 79,585,563 (GRCm39) nonsense probably null
R1934:Col12a1 UTSW 9 79,511,804 (GRCm39) nonsense probably null
R1942:Col12a1 UTSW 9 79,542,748 (GRCm39) missense probably damaging 1.00
R1950:Col12a1 UTSW 9 79,537,831 (GRCm39) missense possibly damaging 0.62
R2027:Col12a1 UTSW 9 79,553,075 (GRCm39) critical splice acceptor site probably null
R2061:Col12a1 UTSW 9 79,524,987 (GRCm39) missense possibly damaging 0.88
R2064:Col12a1 UTSW 9 79,569,736 (GRCm39) splice site probably benign
R2070:Col12a1 UTSW 9 79,554,978 (GRCm39) missense probably benign 0.00
R2112:Col12a1 UTSW 9 79,551,181 (GRCm39) missense possibly damaging 0.93
R2209:Col12a1 UTSW 9 79,599,634 (GRCm39) missense possibly damaging 0.83
R2275:Col12a1 UTSW 9 79,542,709 (GRCm39) missense probably damaging 0.99
R2330:Col12a1 UTSW 9 79,540,939 (GRCm39) missense probably damaging 0.99
R2373:Col12a1 UTSW 9 79,564,095 (GRCm39) missense probably benign 0.03
R2425:Col12a1 UTSW 9 79,585,648 (GRCm39) missense probably damaging 1.00
R2428:Col12a1 UTSW 9 79,509,533 (GRCm39) missense probably benign 0.30
R2437:Col12a1 UTSW 9 79,599,501 (GRCm39) missense probably damaging 0.97
R2831:Col12a1 UTSW 9 79,604,683 (GRCm39) missense probably null 0.99
R2851:Col12a1 UTSW 9 79,585,614 (GRCm39) missense probably damaging 1.00
R2872:Col12a1 UTSW 9 79,606,831 (GRCm39) missense probably damaging 1.00
R2872:Col12a1 UTSW 9 79,606,831 (GRCm39) missense probably damaging 1.00
R2874:Col12a1 UTSW 9 79,606,831 (GRCm39) missense probably damaging 1.00
R2904:Col12a1 UTSW 9 79,559,307 (GRCm39) missense probably damaging 1.00
R2905:Col12a1 UTSW 9 79,559,307 (GRCm39) missense probably damaging 1.00
R2991:Col12a1 UTSW 9 79,607,547 (GRCm39) missense probably damaging 1.00
R3402:Col12a1 UTSW 9 79,551,229 (GRCm39) missense probably damaging 1.00
R3429:Col12a1 UTSW 9 79,587,593 (GRCm39) missense probably benign
R3430:Col12a1 UTSW 9 79,587,593 (GRCm39) missense probably benign
R3547:Col12a1 UTSW 9 79,540,698 (GRCm39) missense probably damaging 1.00
R3789:Col12a1 UTSW 9 79,547,005 (GRCm39) missense possibly damaging 0.96
R4091:Col12a1 UTSW 9 79,609,646 (GRCm39) missense probably damaging 0.99
R4328:Col12a1 UTSW 9 79,607,671 (GRCm39) missense possibly damaging 0.91
R4382:Col12a1 UTSW 9 79,538,023 (GRCm39) nonsense probably null
R4392:Col12a1 UTSW 9 79,569,770 (GRCm39) missense probably damaging 1.00
R4405:Col12a1 UTSW 9 79,547,247 (GRCm39) critical splice donor site probably null
R4465:Col12a1 UTSW 9 79,580,192 (GRCm39) missense possibly damaging 0.62
R4521:Col12a1 UTSW 9 79,540,639 (GRCm39) missense probably benign 0.00
R4612:Col12a1 UTSW 9 79,523,339 (GRCm39) missense probably damaging 0.99
R4613:Col12a1 UTSW 9 79,554,883 (GRCm39) missense probably benign 0.03
R4649:Col12a1 UTSW 9 79,547,076 (GRCm39) missense probably damaging 1.00
R4651:Col12a1 UTSW 9 79,520,228 (GRCm39) missense probably damaging 1.00
R4652:Col12a1 UTSW 9 79,520,228 (GRCm39) missense probably damaging 1.00
R4738:Col12a1 UTSW 9 79,606,564 (GRCm39) missense probably damaging 1.00
R4745:Col12a1 UTSW 9 79,559,368 (GRCm39) splice site probably null
R4761:Col12a1 UTSW 9 79,564,592 (GRCm39) missense probably benign 0.34
R4784:Col12a1 UTSW 9 79,585,776 (GRCm39) missense possibly damaging 0.50
R4785:Col12a1 UTSW 9 79,585,776 (GRCm39) missense possibly damaging 0.50
R4809:Col12a1 UTSW 9 79,600,849 (GRCm39) missense probably benign 0.10
R4821:Col12a1 UTSW 9 79,622,622 (GRCm39) intron probably benign
R4925:Col12a1 UTSW 9 79,582,077 (GRCm39) missense probably damaging 1.00
R4938:Col12a1 UTSW 9 79,607,632 (GRCm39) nonsense probably null
R5034:Col12a1 UTSW 9 79,564,649 (GRCm39) missense probably damaging 1.00
R5133:Col12a1 UTSW 9 79,512,456 (GRCm39) missense probably damaging 0.99
R5138:Col12a1 UTSW 9 79,551,248 (GRCm39) missense probably damaging 1.00
R5145:Col12a1 UTSW 9 79,613,582 (GRCm39) missense probably benign 0.00
R5152:Col12a1 UTSW 9 79,564,030 (GRCm39) missense probably damaging 1.00
R5237:Col12a1 UTSW 9 79,607,544 (GRCm39) missense probably benign 0.00
R5268:Col12a1 UTSW 9 79,585,329 (GRCm39) missense probably damaging 0.99
R5328:Col12a1 UTSW 9 79,527,342 (GRCm39) missense probably damaging 0.96
R5372:Col12a1 UTSW 9 79,585,648 (GRCm39) missense probably damaging 1.00
R5440:Col12a1 UTSW 9 79,521,645 (GRCm39) missense probably benign 0.07
R5496:Col12a1 UTSW 9 79,509,467 (GRCm39) splice site probably benign
R5537:Col12a1 UTSW 9 79,606,872 (GRCm39) missense probably damaging 1.00
R5596:Col12a1 UTSW 9 79,611,041 (GRCm39) missense probably damaging 1.00
R5677:Col12a1 UTSW 9 79,606,603 (GRCm39) missense probably damaging 1.00
R5715:Col12a1 UTSW 9 79,523,347 (GRCm39) nonsense probably null
R5796:Col12a1 UTSW 9 79,611,111 (GRCm39) missense possibly damaging 0.73
R5829:Col12a1 UTSW 9 79,540,955 (GRCm39) missense probably damaging 1.00
R5865:Col12a1 UTSW 9 79,511,760 (GRCm39) missense probably benign 0.00
R5919:Col12a1 UTSW 9 79,509,580 (GRCm39) missense probably damaging 0.99
R5974:Col12a1 UTSW 9 79,589,409 (GRCm39) missense probably damaging 0.99
R5981:Col12a1 UTSW 9 79,585,788 (GRCm39) missense probably damaging 0.99
R6027:Col12a1 UTSW 9 79,563,860 (GRCm39) critical splice donor site probably null
R6090:Col12a1 UTSW 9 79,599,675 (GRCm39) missense probably damaging 1.00
R6293:Col12a1 UTSW 9 79,521,640 (GRCm39) missense probably benign 0.00
R6393:Col12a1 UTSW 9 79,562,767 (GRCm39) missense probably damaging 0.99
R6457:Col12a1 UTSW 9 79,552,973 (GRCm39) missense probably damaging 1.00
R6505:Col12a1 UTSW 9 79,554,887 (GRCm39) missense probably damaging 0.98
R6508:Col12a1 UTSW 9 79,557,231 (GRCm39) missense probably damaging 1.00
R6620:Col12a1 UTSW 9 79,527,331 (GRCm39) missense probably damaging 0.98
R6718:Col12a1 UTSW 9 79,606,887 (GRCm39) missense probably damaging 1.00
R6752:Col12a1 UTSW 9 79,540,706 (GRCm39) missense possibly damaging 0.72
R6774:Col12a1 UTSW 9 79,613,619 (GRCm39) missense possibly damaging 0.65
R6872:Col12a1 UTSW 9 79,584,516 (GRCm39) missense probably damaging 1.00
R6884:Col12a1 UTSW 9 79,547,091 (GRCm39) missense possibly damaging 0.92
R6935:Col12a1 UTSW 9 79,607,782 (GRCm39) missense possibly damaging 0.76
R7198:Col12a1 UTSW 9 79,557,314 (GRCm39) missense possibly damaging 0.56
R7296:Col12a1 UTSW 9 79,589,348 (GRCm39) missense probably damaging 1.00
R7365:Col12a1 UTSW 9 79,613,642 (GRCm39) missense probably damaging 0.99
R7466:Col12a1 UTSW 9 79,562,689 (GRCm39) missense possibly damaging 0.95
R7516:Col12a1 UTSW 9 79,520,192 (GRCm39) splice site probably null
R7584:Col12a1 UTSW 9 79,610,578 (GRCm39) critical splice donor site probably null
R7624:Col12a1 UTSW 9 79,553,076 (GRCm39) splice site probably null
R7670:Col12a1 UTSW 9 79,538,925 (GRCm39) missense probably damaging 1.00
R7678:Col12a1 UTSW 9 79,558,768 (GRCm39) missense probably damaging 0.99
R7702:Col12a1 UTSW 9 79,588,803 (GRCm39) missense probably damaging 1.00
R7796:Col12a1 UTSW 9 79,585,833 (GRCm39) missense possibly damaging 0.88
R7902:Col12a1 UTSW 9 79,548,863 (GRCm39) missense probably benign 0.00
R7923:Col12a1 UTSW 9 79,585,775 (GRCm39) missense probably benign 0.00
R7986:Col12a1 UTSW 9 79,511,674 (GRCm39) critical splice donor site probably null
R8004:Col12a1 UTSW 9 79,591,683 (GRCm39) missense probably damaging 1.00
R8046:Col12a1 UTSW 9 79,613,508 (GRCm39) critical splice donor site probably null
R8056:Col12a1 UTSW 9 79,507,220 (GRCm39) missense
R8151:Col12a1 UTSW 9 79,537,831 (GRCm39) missense possibly damaging 0.62
R8203:Col12a1 UTSW 9 79,588,831 (GRCm39) missense possibly damaging 0.94
R8221:Col12a1 UTSW 9 79,551,224 (GRCm39) missense probably damaging 1.00
R8294:Col12a1 UTSW 9 79,606,594 (GRCm39) missense possibly damaging 0.91
R8309:Col12a1 UTSW 9 79,512,465 (GRCm39) missense possibly damaging 0.68
R8319:Col12a1 UTSW 9 79,555,979 (GRCm39) missense probably damaging 0.97
R8351:Col12a1 UTSW 9 79,588,694 (GRCm39) missense probably damaging 0.97
R8442:Col12a1 UTSW 9 79,542,781 (GRCm39) missense probably damaging 1.00
R8500:Col12a1 UTSW 9 79,517,133 (GRCm39) missense probably damaging 1.00
R8682:Col12a1 UTSW 9 79,568,358 (GRCm39) missense probably benign 0.03
R8700:Col12a1 UTSW 9 79,527,371 (GRCm39) missense probably benign 0.09
R8859:Col12a1 UTSW 9 79,587,681 (GRCm39) nonsense probably null
R8898:Col12a1 UTSW 9 79,599,577 (GRCm39) missense probably benign 0.08
R8930:Col12a1 UTSW 9 79,580,665 (GRCm39) missense probably benign
R8932:Col12a1 UTSW 9 79,580,665 (GRCm39) missense probably benign
R8949:Col12a1 UTSW 9 79,581,970 (GRCm39) missense probably benign 0.17
R8962:Col12a1 UTSW 9 79,538,901 (GRCm39) missense probably damaging 1.00
R9045:Col12a1 UTSW 9 79,582,034 (GRCm39) missense probably benign 0.00
R9080:Col12a1 UTSW 9 79,517,133 (GRCm39) missense probably benign 0.06
R9145:Col12a1 UTSW 9 79,527,344 (GRCm39) missense probably benign 0.16
R9163:Col12a1 UTSW 9 79,548,729 (GRCm39) critical splice donor site probably null
R9168:Col12a1 UTSW 9 79,548,783 (GRCm39) nonsense probably null
R9188:Col12a1 UTSW 9 79,509,614 (GRCm39) missense probably benign 0.22
R9258:Col12a1 UTSW 9 79,613,645 (GRCm39) missense probably benign 0.04
R9292:Col12a1 UTSW 9 79,585,805 (GRCm39) missense probably benign 0.33
R9345:Col12a1 UTSW 9 79,541,017 (GRCm39) missense probably benign 0.08
R9382:Col12a1 UTSW 9 79,589,364 (GRCm39) missense probably benign 0.23
R9427:Col12a1 UTSW 9 79,589,445 (GRCm39) missense probably benign 0.15
R9601:Col12a1 UTSW 9 79,525,034 (GRCm39) missense probably damaging 0.98
R9653:Col12a1 UTSW 9 79,584,556 (GRCm39) missense probably benign
R9668:Col12a1 UTSW 9 79,546,960 (GRCm39) nonsense probably null
R9762:Col12a1 UTSW 9 79,527,266 (GRCm39) missense possibly damaging 0.82
X0021:Col12a1 UTSW 9 79,515,767 (GRCm39) missense probably damaging 1.00
X0058:Col12a1 UTSW 9 79,509,506 (GRCm39) missense possibly damaging 0.66
X0061:Col12a1 UTSW 9 79,519,674 (GRCm39) splice site probably null
Z1177:Col12a1 UTSW 9 79,507,268 (GRCm39) missense possibly damaging 0.80
Z1177:Col12a1 UTSW 9 79,546,978 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CATAAGGAGTCTTCTGGTGACTG -3'
(R):5'- GTTGCATGTTCCAGGTTGCC -3'

Sequencing Primer
(F):5'- ACTGTTAAGTTCCAAGATTCTGGGC -3'
(R):5'- ATCTATCTGGATGGCTACACATC -3'
Posted On 2017-06-26