Incidental Mutation 'R6245:Col22a1'
ID 505552
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 044403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6245 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 71795795-72034227 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71973816 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 366 (D366Y)
Ref Sequence ENSEMBL: ENSMUSP00000125069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159993]
AlphaFold E9Q7P1
Predicted Effect probably damaging
Transcript: ENSMUST00000159993
AA Change: D366Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: D366Y

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,178,418 (GRCm38) Y218H probably benign Het
Abca9 A G 11: 110,135,423 (GRCm38) I937T probably damaging Het
Adgrl3 T A 5: 81,688,556 (GRCm38) N720K probably benign Het
Akr1c21 T G 13: 4,575,232 (GRCm38) V54G possibly damaging Het
Alpi G T 1: 87,100,834 (GRCm38) D111E probably damaging Het
Armc3 C T 2: 19,248,705 (GRCm38) T219M probably damaging Het
Bms1 T A 6: 118,396,836 (GRCm38) E780V probably damaging Het
Ccdc159 T C 9: 21,935,568 (GRCm38) S244P probably damaging Het
Cdon T C 9: 35,476,939 (GRCm38) W737R probably damaging Het
Chdh T A 14: 30,035,305 (GRCm38) V395D probably damaging Het
Crnkl1 T A 2: 145,928,131 (GRCm38) N264I probably benign Het
Ctnnd2 T C 15: 30,905,748 (GRCm38) L847P probably damaging Het
Cyp4a31 A C 4: 115,571,348 (GRCm38) T382P possibly damaging Het
Dcaf8 A T 1: 172,165,867 (GRCm38) M1L probably benign Het
Ddx31 T A 2: 28,844,982 (GRCm38) F52I probably benign Het
Eps15 G A 4: 109,382,866 (GRCm38) S852N possibly damaging Het
Fchsd1 A T 18: 37,962,775 (GRCm38) L552Q probably damaging Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Frem2 T C 3: 53,655,824 (GRCm38) M421V probably benign Het
Gm1110 T G 9: 26,920,747 (GRCm38) H36P probably benign Het
Gm11639 A T 11: 104,785,008 (GRCm38) Y1542F probably benign Het
Hadha C T 5: 30,120,044 (GRCm38) probably null Het
Hspa4 C T 11: 53,262,939 (GRCm38) E702K probably benign Het
Intu C A 3: 40,675,326 (GRCm38) T362K probably damaging Het
Jaml C T 9: 45,097,919 (GRCm38) T248I probably damaging Het
Kcnj1 A T 9: 32,396,867 (GRCm38) S176C probably damaging Het
Kcnj9 A G 1: 172,326,137 (GRCm38) L140P probably damaging Het
Kif7 T C 7: 79,702,143 (GRCm38) K957R probably damaging Het
Klc4 T A 17: 46,636,679 (GRCm38) I366F probably damaging Het
Lamb2 A G 9: 108,488,199 (GRCm38) probably null Het
Madd T C 2: 91,178,104 (GRCm38) D151G probably benign Het
Man2a1 C A 17: 64,710,826 (GRCm38) A689E probably damaging Het
Mapk8ip1 C A 2: 92,389,244 (GRCm38) G81C probably damaging Het
Msmp T C 4: 43,583,909 (GRCm38) Y48C probably damaging Het
Muc6 T C 7: 141,648,821 (GRCm38) N567S probably damaging Het
Nrap C T 19: 56,379,875 (GRCm38) A192T possibly damaging Het
Nrap A G 19: 56,354,221 (GRCm38) Y748H probably damaging Het
Olfr1138 G C 2: 87,737,896 (GRCm38) Q143E possibly damaging Het
Olfr1370 T A 13: 21,072,690 (GRCm38) T204S possibly damaging Het
Olfr1384 T A 11: 49,514,165 (GRCm38) F176I possibly damaging Het
Pcdhb8 T G 18: 37,357,169 (GRCm38) D633E possibly damaging Het
Pcdhb9 G A 18: 37,403,154 (GRCm38) V734M probably damaging Het
Plscr1 T C 9: 92,259,321 (GRCm38) Y21H unknown Het
Ptk2b G T 14: 66,163,066 (GRCm38) P767T probably damaging Het
Ptprz1 T C 6: 23,051,990 (GRCm38) Y1424H probably damaging Het
Sec31a T A 5: 100,386,184 (GRCm38) Q118L probably benign Het
Selenop A G 15: 3,274,734 (GRCm38) S21G probably damaging Het
Shank1 G A 7: 44,352,253 (GRCm38) S1132N unknown Het
Slf1 A G 13: 77,084,383 (GRCm38) L534P probably damaging Het
Sparcl1 T A 5: 104,085,147 (GRCm38) H596L probably damaging Het
Spocd1 C T 4: 129,957,108 (GRCm38) probably null Het
Tbc1d24 A T 17: 24,185,993 (GRCm38) I59N probably damaging Het
Tctex1d1 A G 4: 102,988,667 (GRCm38) N32S probably benign Het
Tjp3 G A 10: 81,277,276 (GRCm38) T580I probably benign Het
Tmem154 C T 3: 84,684,296 (GRCm38) T51M possibly damaging Het
Tmem8b G A 4: 43,690,246 (GRCm38) V894I probably benign Het
Trbv20 A T 6: 41,188,906 (GRCm38) L88F possibly damaging Het
Tssk2 A C 16: 17,898,948 (GRCm38) I72L possibly damaging Het
Tub T A 7: 109,027,058 (GRCm38) I267N probably damaging Het
Vmn2r104 A T 17: 20,041,567 (GRCm38) F434I possibly damaging Het
Vmn2r42 T C 7: 8,192,734 (GRCm38) N471S probably damaging Het
Vmn2r94 C G 17: 18,258,123 (GRCm38) G121R probably damaging Het
Wdr72 T C 9: 74,148,223 (GRCm38) S245P probably damaging Het
Zbtb42 A G 12: 112,679,535 (GRCm38) Y48C probably damaging Het
Zdbf2 T C 1: 63,304,433 (GRCm38) V657A possibly damaging Het
Zfp768 A T 7: 127,344,091 (GRCm38) C288* probably null Het
Zfp988 T A 4: 147,332,013 (GRCm38) C301* probably null Het
Other mutations in Col22a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Col22a1 APN 15 71,860,958 (GRCm38) critical splice donor site probably null
IGL00434:Col22a1 APN 15 72,006,675 (GRCm38) missense possibly damaging 0.71
IGL00721:Col22a1 APN 15 71,846,177 (GRCm38) missense unknown
IGL00902:Col22a1 APN 15 71,964,659 (GRCm38) missense probably damaging 1.00
IGL01311:Col22a1 APN 15 71,973,637 (GRCm38) splice site probably benign
IGL01329:Col22a1 APN 15 71,907,040 (GRCm38) missense probably benign 0.02
IGL01527:Col22a1 APN 15 71,907,031 (GRCm38) missense probably damaging 0.98
IGL01870:Col22a1 APN 15 71,952,528 (GRCm38) missense probably benign 0.07
IGL02002:Col22a1 APN 15 71,811,097 (GRCm38) splice site probably benign
IGL02248:Col22a1 APN 15 71,799,448 (GRCm38) missense unknown
IGL02322:Col22a1 APN 15 71,822,653 (GRCm38) missense unknown
IGL02472:Col22a1 APN 15 71,827,753 (GRCm38) splice site probably benign
IGL02685:Col22a1 APN 15 71,801,915 (GRCm38) missense unknown
IGL02888:Col22a1 APN 15 71,846,219 (GRCm38) missense unknown
IGL02971:Col22a1 APN 15 72,006,738 (GRCm38) missense probably damaging 1.00
IGL03175:Col22a1 APN 15 71,969,103 (GRCm38) missense possibly damaging 0.81
IGL03240:Col22a1 APN 15 71,807,928 (GRCm38) missense unknown
R0083:Col22a1 UTSW 15 71,890,497 (GRCm38) missense possibly damaging 0.70
R0383:Col22a1 UTSW 15 71,869,004 (GRCm38) missense unknown
R0449:Col22a1 UTSW 15 71,962,671 (GRCm38) critical splice donor site probably null
R0508:Col22a1 UTSW 15 71,933,413 (GRCm38) missense unknown
R0944:Col22a1 UTSW 15 71,881,662 (GRCm38) missense probably benign 0.03
R1289:Col22a1 UTSW 15 71,837,377 (GRCm38) missense unknown
R1436:Col22a1 UTSW 15 71,922,957 (GRCm38) splice site probably benign
R1439:Col22a1 UTSW 15 71,952,377 (GRCm38) splice site probably benign
R1460:Col22a1 UTSW 15 71,821,931 (GRCm38) missense unknown
R1680:Col22a1 UTSW 15 71,799,361 (GRCm38) missense unknown
R1715:Col22a1 UTSW 15 72,006,981 (GRCm38) missense possibly damaging 0.79
R1742:Col22a1 UTSW 15 71,801,913 (GRCm38) missense unknown
R1745:Col22a1 UTSW 15 72,006,787 (GRCm38) missense probably damaging 1.00
R1763:Col22a1 UTSW 15 72,007,176 (GRCm38) missense probably damaging 0.96
R1932:Col22a1 UTSW 15 71,870,140 (GRCm38) missense unknown
R2125:Col22a1 UTSW 15 71,848,577 (GRCm38) missense unknown
R2126:Col22a1 UTSW 15 71,857,253 (GRCm38) nonsense probably null
R2137:Col22a1 UTSW 15 72,006,948 (GRCm38) missense possibly damaging 0.46
R2860:Col22a1 UTSW 15 71,815,943 (GRCm38) critical splice donor site probably null
R2861:Col22a1 UTSW 15 71,815,943 (GRCm38) critical splice donor site probably null
R2862:Col22a1 UTSW 15 71,815,943 (GRCm38) critical splice donor site probably null
R3704:Col22a1 UTSW 15 71,970,307 (GRCm38) missense probably damaging 1.00
R3778:Col22a1 UTSW 15 71,973,692 (GRCm38) missense probably damaging 1.00
R3940:Col22a1 UTSW 15 71,981,933 (GRCm38) nonsense probably null
R3950:Col22a1 UTSW 15 71,977,358 (GRCm38) missense possibly damaging 0.90
R4240:Col22a1 UTSW 15 72,007,131 (GRCm38) missense probably damaging 1.00
R4531:Col22a1 UTSW 15 72,007,149 (GRCm38) missense probably damaging 1.00
R4597:Col22a1 UTSW 15 71,964,662 (GRCm38) missense possibly damaging 0.83
R4604:Col22a1 UTSW 15 71,952,339 (GRCm38) missense probably benign 0.36
R4654:Col22a1 UTSW 15 71,973,695 (GRCm38) missense possibly damaging 0.95
R4782:Col22a1 UTSW 15 71,801,925 (GRCm38) missense unknown
R4847:Col22a1 UTSW 15 71,799,499 (GRCm38) missense unknown
R4980:Col22a1 UTSW 15 71,801,943 (GRCm38) missense unknown
R4981:Col22a1 UTSW 15 71,861,066 (GRCm38) missense unknown
R4996:Col22a1 UTSW 15 72,007,161 (GRCm38) missense probably damaging 0.99
R5007:Col22a1 UTSW 15 71,944,422 (GRCm38) missense probably damaging 1.00
R5135:Col22a1 UTSW 15 71,799,337 (GRCm38) missense unknown
R5197:Col22a1 UTSW 15 72,009,406 (GRCm38) missense probably damaging 0.96
R5292:Col22a1 UTSW 15 71,970,336 (GRCm38) missense probably damaging 1.00
R5449:Col22a1 UTSW 15 71,821,949 (GRCm38) missense unknown
R5480:Col22a1 UTSW 15 71,964,611 (GRCm38) missense probably damaging 0.98
R5627:Col22a1 UTSW 15 71,981,918 (GRCm38) missense probably damaging 0.98
R5828:Col22a1 UTSW 15 72,009,491 (GRCm38) missense probably benign 0.01
R5927:Col22a1 UTSW 15 72,006,966 (GRCm38) missense probably damaging 1.00
R6006:Col22a1 UTSW 15 71,973,836 (GRCm38) missense probably damaging 1.00
R6288:Col22a1 UTSW 15 71,894,869 (GRCm38) critical splice acceptor site probably null
R6482:Col22a1 UTSW 15 71,890,489 (GRCm38) missense possibly damaging 0.93
R6497:Col22a1 UTSW 15 71,890,576 (GRCm38) missense possibly damaging 0.85
R6579:Col22a1 UTSW 15 71,881,653 (GRCm38) missense probably benign 0.18
R6643:Col22a1 UTSW 15 71,822,037 (GRCm38) splice site probably null
R6663:Col22a1 UTSW 15 71,820,059 (GRCm38) missense unknown
R7179:Col22a1 UTSW 15 71,933,413 (GRCm38) missense unknown
R7215:Col22a1 UTSW 15 71,970,332 (GRCm38) nonsense probably null
R7216:Col22a1 UTSW 15 71,973,845 (GRCm38) missense probably damaging 1.00
R7505:Col22a1 UTSW 15 71,799,399 (GRCm38) nonsense probably null
R7585:Col22a1 UTSW 15 71,892,205 (GRCm38) missense probably damaging 0.99
R7699:Col22a1 UTSW 15 71,973,851 (GRCm38) missense probably damaging 1.00
R7788:Col22a1 UTSW 15 71,952,317 (GRCm38) critical splice donor site probably null
R7921:Col22a1 UTSW 15 71,981,962 (GRCm38) splice site probably null
R8205:Col22a1 UTSW 15 71,861,069 (GRCm38) missense unknown
R8769:Col22a1 UTSW 15 72,006,722 (GRCm38) missense probably benign 0.21
R8780:Col22a1 UTSW 15 72,006,947 (GRCm38) missense probably damaging 0.99
R8827:Col22a1 UTSW 15 71,902,816 (GRCm38) critical splice donor site probably null
R8843:Col22a1 UTSW 15 72,006,654 (GRCm38) missense probably damaging 1.00
R8982:Col22a1 UTSW 15 71,973,638 (GRCm38) critical splice donor site probably null
R9031:Col22a1 UTSW 15 71,881,674 (GRCm38) nonsense probably null
R9036:Col22a1 UTSW 15 71,890,582 (GRCm38) missense probably damaging 1.00
R9084:Col22a1 UTSW 15 71,820,080 (GRCm38) missense unknown
R9281:Col22a1 UTSW 15 71,861,071 (GRCm38) missense unknown
R9386:Col22a1 UTSW 15 71,981,945 (GRCm38) missense probably damaging 1.00
R9406:Col22a1 UTSW 15 71,973,692 (GRCm38) missense probably damaging 1.00
R9577:Col22a1 UTSW 15 71,965,746 (GRCm38) missense probably damaging 0.99
R9727:Col22a1 UTSW 15 71,977,274 (GRCm38) missense probably damaging 1.00
X0066:Col22a1 UTSW 15 71,846,200 (GRCm38) missense unknown
X0066:Col22a1 UTSW 15 71,801,879 (GRCm38) missense unknown
Y5406:Col22a1 UTSW 15 71,799,515 (GRCm38) missense unknown
Z1177:Col22a1 UTSW 15 71,915,120 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- ACATCAATGGGAACGCTGTC -3'
(R):5'- TTATATTGCATAGGGCTCAGGAC -3'

Sequencing Primer
(F):5'- GTCATAGAGACGTTTGCCAATCACAG -3'
(R):5'- ATAGGGCTCAGGACTGACTCTG -3'
Posted On 2018-02-28