Incidental Mutation 'R5007:Col22a1'
ID 390244
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 042598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5007 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 71667644-71906076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71816271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 614 (D614E)
Ref Sequence ENSEMBL: ENSMUSP00000125069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159410] [ENSMUST00000159993] [ENSMUST00000229585]
AlphaFold E9Q7P1
Predicted Effect probably damaging
Transcript: ENSMUST00000159410
AA Change: D59E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124182
Gene: ENSMUSG00000079022
AA Change: D59E

DomainStartEndE-ValueType
Pfam:Collagen 1 57 2.6e-11 PFAM
Pfam:Collagen 42 104 6.1e-12 PFAM
Pfam:Collagen 103 163 9.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159993
AA Change: D614E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: D614E

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
VWA 45 227 1.35e-51 SMART
TSPN 248 436 1.26e-33 SMART
low complexity region 454 470 N/A INTRINSIC
internal_repeat_3 494 555 1.96e-13 PROSPERO
internal_repeat_1 496 643 1.49e-19 PROSPERO
low complexity region 644 657 N/A INTRINSIC
low complexity region 673 707 N/A INTRINSIC
Pfam:Collagen 751 823 1.5e-9 PFAM
Pfam:Collagen 810 863 2.3e-10 PFAM
Pfam:Collagen 869 931 4.8e-11 PFAM
Pfam:Collagen 926 990 1.1e-10 PFAM
Pfam:Collagen 1031 1087 1.7e-10 PFAM
Pfam:Collagen 1104 1162 1.8e-11 PFAM
low complexity region 1173 1227 N/A INTRINSIC
low complexity region 1236 1251 N/A INTRINSIC
internal_repeat_2 1257 1348 3.25e-18 PROSPERO
internal_repeat_4 1268 1347 9.67e-7 PROSPERO
Pfam:Collagen 1389 1448 4e-10 PFAM
Pfam:Collagen 1481 1540 2.6e-9 PFAM
low complexity region 1546 1558 N/A INTRINSIC
low complexity region 1580 1590 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162081
Predicted Effect unknown
Transcript: ENSMUST00000229585
AA Change: D59E
Meta Mutation Damage Score 0.0650 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abca8b T C 11: 109,827,590 (GRCm39) T1473A probably damaging Het
Adam22 T C 5: 8,217,393 (GRCm39) Y134C probably damaging Het
Alg9 T A 9: 50,699,524 (GRCm39) M183K probably damaging Het
Ambra1 T C 2: 91,602,655 (GRCm39) I213T possibly damaging Het
Ankrd55 T A 13: 112,504,466 (GRCm39) V376D probably benign Het
Ano4 A C 10: 88,948,807 (GRCm39) V166G probably benign Het
Aox3 T A 1: 58,202,583 (GRCm39) C730S probably benign Het
Apc T A 18: 34,446,016 (GRCm39) Y953N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atg2b T C 12: 105,610,135 (GRCm39) probably null Het
B3gnt9 A G 8: 105,981,122 (GRCm39) Y89H probably damaging Het
Cd38 T G 5: 44,063,506 (GRCm39) F200V probably damaging Het
Cep170 G T 1: 176,597,380 (GRCm39) R388S probably benign Het
Crybg3 C A 16: 59,378,463 (GRCm39) probably benign Het
Ctdp1 A T 18: 80,463,695 (GRCm39) S114T probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dmtf1 T C 5: 9,172,439 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,362,283 (GRCm39) V3715M probably damaging Het
Dok1 A T 6: 83,009,297 (GRCm39) L185H probably damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Eif2ak1 G T 5: 143,810,698 (GRCm39) R136L probably benign Het
Eml5 A T 12: 98,797,224 (GRCm39) S1063T probably damaging Het
Fam171b T A 2: 83,685,853 (GRCm39) L179* probably null Het
Flot1 G T 17: 36,135,267 (GRCm39) probably benign Het
Fmn2 A T 1: 174,571,866 (GRCm39) H1491L probably damaging Het
Frem1 C T 4: 82,859,049 (GRCm39) probably benign Het
Gdf2 A G 14: 33,666,863 (GRCm39) D195G probably benign Het
Golga4 T G 9: 118,387,368 (GRCm39) C1497G probably benign Het
Gpaa1 T A 15: 76,215,868 (GRCm39) C33* probably null Het
Hectd1 A T 12: 51,849,443 (GRCm39) C254S possibly damaging Het
Hspa1b C T 17: 35,177,086 (GRCm39) A300T probably benign Het
Igf2bp2 A G 16: 21,898,246 (GRCm39) I233T probably damaging Het
Iqce C A 5: 140,661,003 (GRCm39) A491S possibly damaging Het
Irak3 A G 10: 119,982,334 (GRCm39) probably null Het
Kcnip1 T A 11: 33,592,495 (GRCm39) H124L probably benign Het
Klhdc10 G A 6: 30,450,640 (GRCm39) R393Q probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Map2 T C 1: 66,452,448 (GRCm39) V288A possibly damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Meltf A G 16: 31,706,380 (GRCm39) D288G possibly damaging Het
Mgat4e T A 1: 134,468,890 (GRCm39) I385F probably benign Het
Mical3 A C 6: 121,015,030 (GRCm39) V211G probably damaging Het
Mlh1 A G 9: 111,100,478 (GRCm39) *39R probably null Het
Mre11a A G 9: 14,721,116 (GRCm39) D345G probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nat1 T G 8: 67,944,077 (GRCm39) L154R probably benign Het
Nlrp4a A G 7: 26,161,905 (GRCm39) D851G probably damaging Het
Npas4 A C 19: 5,039,684 (GRCm39) V54G possibly damaging Het
Or13n4 T C 7: 106,423,364 (GRCm39) Y123C probably damaging Het
Pcbp4 G A 9: 106,339,292 (GRCm39) G100R probably damaging Het
Pcdh17 A G 14: 84,770,737 (GRCm39) T1072A probably benign Het
Pcdh18 T C 3: 49,708,906 (GRCm39) N803S probably benign Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Ppm1l T A 3: 69,224,931 (GRCm39) L11Q probably damaging Het
Pram1 T A 17: 33,864,411 (GRCm39) V658E probably damaging Het
Prr12 C T 7: 44,699,225 (GRCm39) probably benign Het
Prxl2b A G 4: 154,981,531 (GRCm39) probably null Het
Ptprq A G 10: 107,444,137 (GRCm39) V1489A probably benign Het
Ryr1 T A 7: 28,768,540 (GRCm39) I2817F probably damaging Het
Sall2 A G 14: 52,551,950 (GRCm39) L413P probably damaging Het
Slc7a9 T A 7: 35,153,554 (GRCm39) M185K probably benign Het
Stag2 C T X: 41,355,130 (GRCm39) H1149Y possibly damaging Het
Timm10b T A 7: 105,290,298 (GRCm39) Y64N probably damaging Het
Tmem30c T C 16: 57,086,868 (GRCm39) T312A probably benign Het
Tmem9b G T 7: 109,344,550 (GRCm39) C17* probably null Het
Vmn2r68 C A 7: 84,881,622 (GRCm39) R486L probably benign Het
Xkr9 T A 1: 13,771,387 (GRCm39) I301N probably damaging Het
Xpo7 T C 14: 70,925,704 (GRCm39) Q446R probably damaging Het
Ythdf3 T C 3: 16,259,362 (GRCm39) V503A possibly damaging Het
Zfp280b T A 10: 75,875,048 (GRCm39) V309D probably damaging Het
Zfp53 T A 17: 21,729,772 (GRCm39) C602S probably benign Het
Zfp616 A T 11: 73,974,643 (GRCm39) N395I possibly damaging Het
Zfp644 T C 5: 106,783,867 (GRCm39) I862M probably benign Het
Zfp715 T C 7: 42,949,019 (GRCm39) T314A possibly damaging Het
Other mutations in Col22a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Col22a1 APN 15 71,732,807 (GRCm39) critical splice donor site probably null
IGL00434:Col22a1 APN 15 71,878,524 (GRCm39) missense possibly damaging 0.71
IGL00721:Col22a1 APN 15 71,718,026 (GRCm39) missense unknown
IGL00902:Col22a1 APN 15 71,836,508 (GRCm39) missense probably damaging 1.00
IGL01311:Col22a1 APN 15 71,845,486 (GRCm39) splice site probably benign
IGL01329:Col22a1 APN 15 71,778,889 (GRCm39) missense probably benign 0.02
IGL01527:Col22a1 APN 15 71,778,880 (GRCm39) missense probably damaging 0.98
IGL01870:Col22a1 APN 15 71,824,377 (GRCm39) missense probably benign 0.07
IGL02002:Col22a1 APN 15 71,682,946 (GRCm39) splice site probably benign
IGL02248:Col22a1 APN 15 71,671,297 (GRCm39) missense unknown
IGL02322:Col22a1 APN 15 71,694,502 (GRCm39) missense unknown
IGL02472:Col22a1 APN 15 71,699,602 (GRCm39) splice site probably benign
IGL02685:Col22a1 APN 15 71,673,764 (GRCm39) missense unknown
IGL02888:Col22a1 APN 15 71,718,068 (GRCm39) missense unknown
IGL02971:Col22a1 APN 15 71,878,587 (GRCm39) missense probably damaging 1.00
IGL03175:Col22a1 APN 15 71,840,952 (GRCm39) missense possibly damaging 0.81
IGL03240:Col22a1 APN 15 71,679,777 (GRCm39) missense unknown
R0083:Col22a1 UTSW 15 71,762,346 (GRCm39) missense possibly damaging 0.70
R0383:Col22a1 UTSW 15 71,740,853 (GRCm39) missense unknown
R0449:Col22a1 UTSW 15 71,834,520 (GRCm39) critical splice donor site probably null
R0508:Col22a1 UTSW 15 71,805,262 (GRCm39) missense unknown
R0944:Col22a1 UTSW 15 71,753,511 (GRCm39) missense probably benign 0.03
R1289:Col22a1 UTSW 15 71,709,226 (GRCm39) missense unknown
R1436:Col22a1 UTSW 15 71,794,806 (GRCm39) splice site probably benign
R1439:Col22a1 UTSW 15 71,824,226 (GRCm39) splice site probably benign
R1460:Col22a1 UTSW 15 71,693,780 (GRCm39) missense unknown
R1680:Col22a1 UTSW 15 71,671,210 (GRCm39) missense unknown
R1715:Col22a1 UTSW 15 71,878,830 (GRCm39) missense possibly damaging 0.79
R1742:Col22a1 UTSW 15 71,673,762 (GRCm39) missense unknown
R1745:Col22a1 UTSW 15 71,878,636 (GRCm39) missense probably damaging 1.00
R1763:Col22a1 UTSW 15 71,879,025 (GRCm39) missense probably damaging 0.96
R1932:Col22a1 UTSW 15 71,741,989 (GRCm39) missense unknown
R2125:Col22a1 UTSW 15 71,720,426 (GRCm39) missense unknown
R2126:Col22a1 UTSW 15 71,729,102 (GRCm39) nonsense probably null
R2137:Col22a1 UTSW 15 71,878,797 (GRCm39) missense possibly damaging 0.46
R2860:Col22a1 UTSW 15 71,687,792 (GRCm39) critical splice donor site probably null
R2861:Col22a1 UTSW 15 71,687,792 (GRCm39) critical splice donor site probably null
R2862:Col22a1 UTSW 15 71,687,792 (GRCm39) critical splice donor site probably null
R3704:Col22a1 UTSW 15 71,842,156 (GRCm39) missense probably damaging 1.00
R3778:Col22a1 UTSW 15 71,845,541 (GRCm39) missense probably damaging 1.00
R3940:Col22a1 UTSW 15 71,853,782 (GRCm39) nonsense probably null
R3950:Col22a1 UTSW 15 71,849,207 (GRCm39) missense possibly damaging 0.90
R4240:Col22a1 UTSW 15 71,878,980 (GRCm39) missense probably damaging 1.00
R4531:Col22a1 UTSW 15 71,878,998 (GRCm39) missense probably damaging 1.00
R4597:Col22a1 UTSW 15 71,836,511 (GRCm39) missense possibly damaging 0.83
R4604:Col22a1 UTSW 15 71,824,188 (GRCm39) missense probably benign 0.36
R4654:Col22a1 UTSW 15 71,845,544 (GRCm39) missense possibly damaging 0.95
R4782:Col22a1 UTSW 15 71,673,774 (GRCm39) missense unknown
R4847:Col22a1 UTSW 15 71,671,348 (GRCm39) missense unknown
R4980:Col22a1 UTSW 15 71,673,792 (GRCm39) missense unknown
R4981:Col22a1 UTSW 15 71,732,915 (GRCm39) missense unknown
R4996:Col22a1 UTSW 15 71,879,010 (GRCm39) missense probably damaging 0.99
R5135:Col22a1 UTSW 15 71,671,186 (GRCm39) missense unknown
R5197:Col22a1 UTSW 15 71,881,255 (GRCm39) missense probably damaging 0.96
R5292:Col22a1 UTSW 15 71,842,185 (GRCm39) missense probably damaging 1.00
R5449:Col22a1 UTSW 15 71,693,798 (GRCm39) missense unknown
R5480:Col22a1 UTSW 15 71,836,460 (GRCm39) missense probably damaging 0.98
R5627:Col22a1 UTSW 15 71,853,767 (GRCm39) missense probably damaging 0.98
R5828:Col22a1 UTSW 15 71,881,340 (GRCm39) missense probably benign 0.01
R5927:Col22a1 UTSW 15 71,878,815 (GRCm39) missense probably damaging 1.00
R6006:Col22a1 UTSW 15 71,845,685 (GRCm39) missense probably damaging 1.00
R6245:Col22a1 UTSW 15 71,845,665 (GRCm39) missense probably damaging 0.99
R6288:Col22a1 UTSW 15 71,766,718 (GRCm39) critical splice acceptor site probably null
R6482:Col22a1 UTSW 15 71,762,338 (GRCm39) missense possibly damaging 0.93
R6497:Col22a1 UTSW 15 71,762,425 (GRCm39) missense possibly damaging 0.85
R6579:Col22a1 UTSW 15 71,753,502 (GRCm39) missense probably benign 0.18
R6643:Col22a1 UTSW 15 71,693,886 (GRCm39) splice site probably null
R6663:Col22a1 UTSW 15 71,691,908 (GRCm39) missense unknown
R7179:Col22a1 UTSW 15 71,805,262 (GRCm39) missense unknown
R7215:Col22a1 UTSW 15 71,842,181 (GRCm39) nonsense probably null
R7216:Col22a1 UTSW 15 71,845,694 (GRCm39) missense probably damaging 1.00
R7505:Col22a1 UTSW 15 71,671,248 (GRCm39) nonsense probably null
R7585:Col22a1 UTSW 15 71,764,054 (GRCm39) missense probably damaging 0.99
R7699:Col22a1 UTSW 15 71,845,700 (GRCm39) missense probably damaging 1.00
R7788:Col22a1 UTSW 15 71,824,166 (GRCm39) critical splice donor site probably null
R7921:Col22a1 UTSW 15 71,853,811 (GRCm39) splice site probably null
R8205:Col22a1 UTSW 15 71,732,918 (GRCm39) missense unknown
R8769:Col22a1 UTSW 15 71,878,571 (GRCm39) missense probably benign 0.21
R8780:Col22a1 UTSW 15 71,878,796 (GRCm39) missense probably damaging 0.99
R8827:Col22a1 UTSW 15 71,774,665 (GRCm39) critical splice donor site probably null
R8843:Col22a1 UTSW 15 71,878,503 (GRCm39) missense probably damaging 1.00
R8982:Col22a1 UTSW 15 71,845,487 (GRCm39) critical splice donor site probably null
R9031:Col22a1 UTSW 15 71,753,523 (GRCm39) nonsense probably null
R9036:Col22a1 UTSW 15 71,762,431 (GRCm39) missense probably damaging 1.00
R9084:Col22a1 UTSW 15 71,691,929 (GRCm39) missense unknown
R9281:Col22a1 UTSW 15 71,732,920 (GRCm39) missense unknown
R9386:Col22a1 UTSW 15 71,853,794 (GRCm39) missense probably damaging 1.00
R9406:Col22a1 UTSW 15 71,845,541 (GRCm39) missense probably damaging 1.00
R9577:Col22a1 UTSW 15 71,837,595 (GRCm39) missense probably damaging 0.99
R9727:Col22a1 UTSW 15 71,849,123 (GRCm39) missense probably damaging 1.00
X0066:Col22a1 UTSW 15 71,718,049 (GRCm39) missense unknown
X0066:Col22a1 UTSW 15 71,673,728 (GRCm39) missense unknown
Y5406:Col22a1 UTSW 15 71,671,364 (GRCm39) missense unknown
Z1177:Col22a1 UTSW 15 71,786,969 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGCAGTGGGATTGTTGGAATC -3'
(R):5'- TGACCTGTGACTTGCTCTGC -3'

Sequencing Primer
(F):5'- GTGGTGCTTGAGTTCACAGAATCAAC -3'
(R):5'- GTGACTTGCTCTGCTCTCCAATATG -3'
Posted On 2016-06-06