Incidental Mutation 'R1763:Col22a1'
ID 193229
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 71667644-71906076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71879025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000125069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159993]
AlphaFold E9Q7P1
Predicted Effect probably damaging
Transcript: ENSMUST00000159993
AA Change: V44A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: V44A

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
Meta Mutation Damage Score 0.1625 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,396,529 (GRCm39) V401A probably benign Het
Abca4 G A 3: 121,904,330 (GRCm39) V794M probably benign Het
Abca4 A T 3: 121,957,479 (GRCm39) T772S probably damaging Het
Acox3 G A 5: 35,765,683 (GRCm39) probably null Het
Adamts17 A G 7: 66,797,463 (GRCm39) N1060S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Als2 T C 1: 59,214,150 (GRCm39) Y1346C probably benign Het
Apol10b A T 15: 77,469,215 (GRCm39) F321I probably benign Het
Atp5pb A G 3: 105,858,905 (GRCm39) probably null Het
Bloc1s5 A G 13: 38,803,060 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Cacna1d A G 14: 29,821,153 (GRCm39) V1121A probably benign Het
Cad G A 5: 31,218,295 (GRCm39) V460I probably damaging Het
Caprin2 A T 6: 148,744,619 (GRCm39) D935E probably damaging Het
Ccdc150 A T 1: 54,393,795 (GRCm39) K686N probably benign Het
Ccnt2 T C 1: 127,727,143 (GRCm39) F186L possibly damaging Het
Cd5l G A 3: 87,275,187 (GRCm39) probably null Het
Chrna7 A G 7: 62,749,000 (GRCm39) V494A probably benign Het
Clec2i T G 6: 128,872,388 (GRCm39) Y198* probably null Het
Cspg4 T A 9: 56,794,263 (GRCm39) I666N probably damaging Het
Cyp3a16 A T 5: 145,401,841 (GRCm39) probably null Het
Dlk1 G T 12: 109,424,045 (GRCm39) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Dscc1 T A 15: 54,947,535 (GRCm39) H215L probably damaging Het
Dus1l C G 11: 120,686,497 (GRCm39) G15R probably benign Het
Eps8l1 G T 7: 4,474,822 (GRCm39) V268L probably benign Het
F2 A C 2: 91,465,251 (GRCm39) C104W probably damaging Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fmn2 T C 1: 174,329,832 (GRCm39) L74P unknown Het
Frmd6 G A 12: 70,940,396 (GRCm39) R347Q possibly damaging Het
Gabbr1 T G 17: 37,365,659 (GRCm39) S158A probably damaging Het
Galc T C 12: 98,200,525 (GRCm39) N295S probably damaging Het
Gm6408 A T 5: 146,419,132 (GRCm39) N49I probably damaging Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Grm8 C T 6: 27,285,866 (GRCm39) V849I possibly damaging Het
Hmcn2 A G 2: 31,204,602 (GRCm39) D59G probably damaging Het
Iars1 G A 13: 49,876,553 (GRCm39) probably null Het
Ifi27l2a C T 12: 103,403,941 (GRCm39) A127V possibly damaging Het
Ikbip A G 10: 90,932,343 (GRCm39) N329S probably damaging Het
Ikbke T C 1: 131,193,614 (GRCm39) T479A probably benign Het
Krt12 T A 11: 99,306,886 (GRCm39) N472I probably damaging Het
Lmnb2 A T 10: 80,743,025 (GRCm39) L193Q probably damaging Het
Lrriq4 T C 3: 30,704,401 (GRCm39) V128A probably benign Het
Map4k4 C A 1: 40,039,917 (GRCm39) probably benign Het
Mtmr7 T C 8: 41,004,852 (GRCm39) T575A probably benign Het
Myh13 G A 11: 67,225,402 (GRCm39) A256T probably benign Het
Napepld A G 5: 21,888,408 (GRCm39) Y14H probably benign Het
Npr1 T C 3: 90,366,644 (GRCm39) T552A probably damaging Het
Nudt15 A G 14: 73,759,087 (GRCm39) F127S probably benign Het
Nwd2 T A 5: 63,965,614 (GRCm39) S1733T probably benign Het
Or11a4 T C 17: 37,536,321 (GRCm39) F102L probably benign Het
Or4c102 A G 2: 88,422,780 (GRCm39) I211V probably benign Het
Or4c10b G A 2: 89,711,473 (GRCm39) G101E probably damaging Het
Or6z1 T G 7: 6,504,440 (GRCm39) I262L probably benign Het
Or8b44 A G 9: 38,410,334 (GRCm39) Y123C probably damaging Het
Paqr7 A T 4: 134,234,409 (GRCm39) I89F probably benign Het
Pidd1 C A 7: 141,019,543 (GRCm39) V706L probably benign Het
Polr3c A T 3: 96,620,911 (GRCm39) I469N probably damaging Het
Ppip5k1 A G 2: 121,179,028 (GRCm39) Y233H probably damaging Het
Psmc3 A G 2: 90,886,340 (GRCm39) T166A possibly damaging Het
Ptchd3 A T 11: 121,733,368 (GRCm39) I753L probably benign Het
Rad21 T C 15: 51,841,566 (GRCm39) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs20 C T 1: 4,980,863 (GRCm39) R154Q probably damaging Het
Sbf1 T C 15: 89,178,628 (GRCm39) D1449G probably damaging Het
Sema4g C T 19: 44,990,044 (GRCm39) R708* probably null Het
Septin9 T C 11: 117,181,254 (GRCm39) I18T probably benign Het
Serpinb6b A G 13: 33,162,041 (GRCm39) E280G probably damaging Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,158 (GRCm39) W554* probably null Het
Slco1a4 A C 6: 141,758,457 (GRCm39) I518R probably benign Het
Stab1 T A 14: 30,890,373 (GRCm39) Q26L probably benign Het
Stox1 A G 10: 62,503,744 (GRCm39) F104L probably damaging Het
Suco T C 1: 161,662,518 (GRCm39) K638E possibly damaging Het
Synpo T C 18: 60,735,856 (GRCm39) K458E probably damaging Het
Szt2 A T 4: 118,229,565 (GRCm39) W2820R unknown Het
Tmtc1 C A 6: 148,196,116 (GRCm39) G499W probably damaging Het
Tonsl A C 15: 76,522,266 (GRCm39) S242R probably damaging Het
Trpc4 G T 3: 54,102,243 (GRCm39) S47I possibly damaging Het
Zfp106 G A 2: 120,350,909 (GRCm39) R1581C probably benign Het
Zfp27 A G 7: 29,594,801 (GRCm39) L388P 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
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
R5007:Col22a1 UTSW 15 71,816,271 (GRCm39) missense probably damaging 1.00
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'- ACCTGCTTGAAGGCACGATTCC -3'
(R):5'- TGAGACTCTGTAACCACCCTGCTG -3'

Sequencing Primer
(F):5'- TATAACGCAGGGCGTCAC -3'
(R):5'- CCCTGCTGTGGGATGTCAG -3'
Posted On 2014-05-23