Incidental Mutation 'R2125:Col22a1'
ID 229801
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 040128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2125 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 71667644-71906076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71720426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 605 (R605C)
Ref Sequence ENSEMBL: ENSMUSP00000155641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159993] [ENSMUST00000229585]
AlphaFold E9Q7P1
Predicted Effect unknown
Transcript: ENSMUST00000159993
AA Change: R1160C
SMART Domains Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: R1160C

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 unknown
Transcript: ENSMUST00000229585
AA Change: R605C
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,066 (GRCm39) T255A possibly damaging Het
Abcb10 A C 8: 124,691,831 (GRCm39) V378G probably benign Het
Ackr2 C T 9: 121,737,852 (GRCm39) R76* probably null Het
Acly T C 11: 100,414,322 (GRCm39) T35A probably benign Het
Acp7 A C 7: 28,328,974 (GRCm39) F69V probably damaging Het
Acsl3 T A 1: 78,659,678 (GRCm39) I110N probably damaging Het
Adam5 C T 8: 25,305,134 (GRCm39) V107M probably damaging Het
Adck2 T C 6: 39,552,076 (GRCm39) V281A probably benign Het
Adgrv1 A G 13: 81,567,654 (GRCm39) V5173A probably benign Het
Adgrv1 A T 13: 81,568,069 (GRCm39) S5035T probably benign Het
Arl10 T A 13: 54,726,937 (GRCm39) probably null Het
B3gnt3 A G 8: 72,146,002 (GRCm39) W176R probably damaging Het
B4galt4 T C 16: 38,586,300 (GRCm39) I3T probably damaging Het
Casr T C 16: 36,315,614 (GRCm39) I819V possibly damaging Het
Cdh1 T C 8: 107,383,472 (GRCm39) V237A probably damaging Het
Crlf3 A G 11: 79,950,081 (GRCm39) V183A probably benign Het
Crtac1 C A 19: 42,312,171 (GRCm39) V181L probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 A T 14: 26,445,613 (GRCm39) R725* probably null Het
Dnhd1 A T 7: 105,327,178 (GRCm39) H709L probably benign Het
Dop1a A G 9: 86,403,099 (GRCm39) Y1431C probably damaging Het
Ecpas T C 4: 58,833,978 (GRCm39) H834R probably benign Het
Eif2ak4 A T 2: 118,252,604 (GRCm39) H392L probably benign Het
Entpd3 T C 9: 120,384,720 (GRCm39) I99T probably damaging Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc6 T C 19: 37,579,389 (GRCm39) L429P probably damaging Het
F13a1 A G 13: 37,076,815 (GRCm39) S625P probably benign Het
Fcgbpl1 A T 7: 27,857,447 (GRCm39) Y2265F probably benign Het
Fcho2 T C 13: 98,912,406 (GRCm39) N240S possibly damaging Het
Fcrl6 C T 1: 172,426,815 (GRCm39) V44M probably benign Het
Fmo6 A T 1: 162,757,527 (GRCm39) M82K possibly damaging Het
Gabrr2 T G 4: 33,095,548 (GRCm39) I479R probably damaging Het
Gnl2 T A 4: 124,947,278 (GRCm39) F633L probably benign Het
Greb1l C T 18: 10,511,422 (GRCm39) S648F probably damaging Het
Gsap T A 5: 21,447,811 (GRCm39) C290S probably damaging Het
Gusb A G 5: 130,028,288 (GRCm39) V268A probably benign Het
H2-D1 G A 17: 35,483,091 (GRCm39) probably null Het
Hebp2 T A 10: 18,417,008 (GRCm39) E164D probably benign Het
Higd1a A T 9: 121,679,313 (GRCm39) I58N probably damaging Het
Hoxc13 G T 15: 102,835,658 (GRCm39) R262L probably damaging Het
Ifih1 A G 2: 62,453,811 (GRCm39) V218A probably benign Het
Impg2 T A 16: 56,085,427 (GRCm39) Y1045N probably damaging Het
Kcnk1 A G 8: 126,722,395 (GRCm39) E66G probably damaging Het
Klkb1 A G 8: 45,728,541 (GRCm39) V406A possibly damaging Het
Klra10 G A 6: 130,256,241 (GRCm39) R138W probably damaging Het
Lama2 A C 10: 26,920,449 (GRCm39) Y193* probably null Het
Larp7 T C 3: 127,336,779 (GRCm39) T428A probably benign Het
Lipg T C 18: 75,078,956 (GRCm39) N432S probably benign Het
Loxl1 T C 9: 58,200,995 (GRCm39) D489G probably damaging Het
Lrguk A G 6: 34,069,837 (GRCm39) K571E probably benign Het
Map3k13 C T 16: 21,710,894 (GRCm39) T59I probably benign Het
Mertk T A 2: 128,604,058 (GRCm39) D397E probably benign Het
Mgat3 G A 15: 80,096,087 (GRCm39) V305I probably benign Het
Mrtfb T C 16: 13,218,668 (GRCm39) V449A possibly damaging Het
Mybpc1 G A 10: 88,409,299 (GRCm39) Q66* probably null Het
Myo3a A G 2: 22,468,186 (GRCm39) D480G probably benign Het
Ndufaf3 C T 9: 108,443,936 (GRCm39) R31Q probably benign Het
Neb T C 2: 52,200,650 (GRCm39) Y343C probably damaging Het
Nrxn3 A G 12: 89,227,290 (GRCm39) probably null Het
Or4c10b A G 2: 89,711,982 (GRCm39) M271V probably benign Het
Or8k40 A T 2: 86,584,796 (GRCm39) N95K probably benign Het
Pcsk4 T C 10: 80,159,713 (GRCm39) M379V probably benign Het
Pdzd2 A T 15: 12,373,676 (GRCm39) V2153E probably benign Het
Pkd2l1 T C 19: 44,142,939 (GRCm39) D427G possibly damaging Het
Plcd4 A G 1: 74,604,311 (GRCm39) Y763C probably damaging Het
Plekhh1 T C 12: 79,125,774 (GRCm39) F1270S probably damaging Het
Pmfbp1 T C 8: 110,246,905 (GRCm39) V259A probably damaging Het
Ptprg T C 14: 12,179,283 (GRCm38) S767P possibly damaging Het
Rabl3 T G 16: 37,377,175 (GRCm39) probably null Het
Rffl T A 11: 82,709,264 (GRCm39) H53L probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rtl1 C T 12: 109,560,355 (GRCm39) V495I possibly damaging Het
Scaf11 A T 15: 96,317,196 (GRCm39) D789E possibly damaging Het
Scn2a T A 2: 65,582,423 (GRCm39) Y1590* probably null Het
Siglech T A 7: 55,421,434 (GRCm39) F190I probably benign Het
Slc22a22 C A 15: 57,117,636 (GRCm39) A302S probably damaging Het
Slc46a3 T A 5: 147,815,954 (GRCm39) T458S probably benign Het
Spta1 G T 1: 174,035,910 (GRCm39) R1072L possibly damaging Het
Tbx5 A G 5: 119,974,988 (GRCm39) T4A probably benign Het
Tdrd5 T C 1: 156,104,143 (GRCm39) R528G probably damaging Het
Tfip11 T C 5: 112,483,529 (GRCm39) V648A possibly damaging Het
Thumpd3 T C 6: 113,043,749 (GRCm39) V388A probably benign Het
Tmem131l C T 3: 83,850,058 (GRCm39) probably null Het
Ttf2 C A 3: 100,855,509 (GRCm39) Q895H possibly damaging Het
Ttn A T 2: 76,720,436 (GRCm39) probably null Het
Vmn2r13 A G 5: 109,306,058 (GRCm39) S507P probably benign Het
Vtn A G 11: 78,391,049 (GRCm39) T210A probably damaging Het
Zfp1010 C A 2: 176,957,195 (GRCm39) C101F probably damaging Het
Znhit2 A G 19: 6,112,091 (GRCm39) T279A probably benign 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
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'- ATGCAGGCTCTTCAGACAAC -3'
(R):5'- CAGGGCTTGCTTCTGTCTAC -3'

Sequencing Primer
(F):5'- CTCTTCAGACAACTGGGAGATG -3'
(R):5'- TGTCTACTGTCACCATGGTTG -3'
Posted On 2014-09-17