Incidental Mutation 'R5502:Col5a2'
ID 430637
Institutional Source Beutler Lab
Gene Symbol Col5a2
Ensembl Gene ENSMUSG00000026042
Gene Name collagen, type V, alpha 2
Synonyms 1110014L14Rik
MMRRC Submission 043063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5502 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 45413491-45542442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45419286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 1265 (G1265W)
Ref Sequence ENSEMBL: ENSMUSP00000083620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086430]
AlphaFold Q3U962
Predicted Effect probably damaging
Transcript: ENSMUST00000086430
AA Change: G1265W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: G1265W

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VWC 40 95 9.94e-23 SMART
Pfam:Collagen 123 186 1.5e-10 PFAM
Pfam:Collagen 207 272 2.9e-9 PFAM
low complexity region 319 347 N/A INTRINSIC
internal_repeat_1 349 421 3.18e-18 PROSPERO
internal_repeat_2 385 422 1.34e-12 PROSPERO
internal_repeat_5 388 423 1.55e-7 PROSPERO
low complexity region 424 460 N/A INTRINSIC
low complexity region 471 508 N/A INTRINSIC
internal_repeat_6 509 535 5.68e-7 PROSPERO
internal_repeat_2 511 548 1.34e-12 PROSPERO
internal_repeat_3 520 549 1.16e-11 PROSPERO
internal_repeat_1 520 571 3.18e-18 PROSPERO
internal_repeat_4 546 574 4.91e-9 PROSPERO
low complexity region 595 611 N/A INTRINSIC
internal_repeat_7 616 741 1.35e-6 PROSPERO
low complexity region 742 757 N/A INTRINSIC
Pfam:Collagen 790 870 4.8e-8 PFAM
low complexity region 877 898 N/A INTRINSIC
Pfam:Collagen 907 979 4.2e-8 PFAM
internal_repeat_4 993 1021 4.91e-9 PROSPERO
internal_repeat_3 994 1023 1.16e-11 PROSPERO
low complexity region 1024 1054 N/A INTRINSIC
internal_repeat_6 1055 1078 5.68e-7 PROSPERO
low complexity region 1081 1096 N/A INTRINSIC
Pfam:Collagen 1111 1171 9.7e-12 PFAM
Pfam:Collagen 1168 1230 1.4e-9 PFAM
COLFI 1263 1497 1.83e-164 SMART
Meta Mutation Damage Score 0.2002 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.0%
  • 20x: 90.2%
Validation Efficiency 98% (84/86)
MGI Phenotype FUNCTION: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc8 A G 7: 45,758,262 (GRCm39) I1268T probably benign Het
Accsl C T 2: 93,687,289 (GRCm39) probably null Het
Actmap A G 7: 26,896,542 (GRCm39) D35G possibly damaging Het
Ank3 A T 10: 69,756,291 (GRCm39) I842F probably benign Het
Bbs9 T A 9: 22,415,370 (GRCm39) L98Q probably damaging Het
Bin2 A G 15: 100,543,286 (GRCm39) V299A probably benign Het
Cabp4 G A 19: 4,181,228 (GRCm39) probably benign Het
Ces2f A T 8: 105,679,155 (GRCm39) H324L possibly damaging Het
Chd4 G A 6: 125,082,239 (GRCm39) R576Q possibly damaging Het
Cndp1 A G 18: 84,650,138 (GRCm39) V185A possibly damaging Het
Cntn3 A C 6: 102,242,295 (GRCm39) V450G possibly damaging Het
Corin G A 5: 72,473,449 (GRCm39) Q754* probably null Het
Cyp4a10 A G 4: 115,382,702 (GRCm39) N291S probably benign Het
Dap3 T C 3: 88,832,633 (GRCm39) Y353C probably damaging Het
Disp1 A G 1: 182,869,450 (GRCm39) V990A probably damaging Het
Dock9 A T 14: 121,847,594 (GRCm39) probably null Het
Dop1b T A 16: 93,590,114 (GRCm39) V179E probably benign Het
Eps15l1 A T 8: 73,132,836 (GRCm39) probably null Het
Fyb2 A T 4: 104,802,521 (GRCm39) Q141L probably damaging Het
Gemin4 A T 11: 76,104,227 (GRCm39) L178* probably null Het
Gm15446 A T 5: 110,088,364 (GRCm39) K25* probably null Het
Gm17067 A T 7: 42,357,843 (GRCm39) C220S probably damaging Het
Gm4868 A G 5: 125,925,042 (GRCm39) noncoding transcript Het
Golga4 GT GTT 9: 118,388,125 (GRCm39) probably null Het
Gria2 T C 3: 80,614,252 (GRCm39) N596S probably damaging Het
Hoxb4 A G 11: 96,211,057 (GRCm39) D219G probably damaging Het
Htr1b T A 9: 81,513,854 (GRCm39) Q251L possibly damaging Het
Ibtk A C 9: 85,602,916 (GRCm39) S696R probably benign Het
Ide C A 19: 37,307,855 (GRCm39) K52N unknown Het
Incenp C A 19: 9,870,728 (GRCm39) L300F unknown Het
Ino80 T C 2: 119,232,877 (GRCm39) Y1147C probably damaging Het
Mme T A 3: 63,207,702 (GRCm39) Y49* probably null Het
Mmp15 A T 8: 96,094,812 (GRCm39) T229S possibly damaging Het
Mtmr4 A T 11: 87,504,904 (GRCm39) N1133I probably damaging Het
Mycbp2 C T 14: 103,411,250 (GRCm39) G284R probably damaging Het
Myo3a T C 2: 22,448,381 (GRCm39) I52T probably damaging Het
Nat8f5 G T 6: 85,794,635 (GRCm39) F108L probably damaging Het
Nbeal1 T A 1: 60,350,158 (GRCm39) H2402Q probably damaging Het
Nexn T A 3: 151,943,941 (GRCm39) E331D probably damaging Het
Nktr C T 9: 121,577,672 (GRCm39) probably benign Het
Oaz3 T C 3: 94,342,392 (GRCm39) D88G probably damaging Het
Or1n1 T C 2: 36,750,282 (GRCm39) Y26C probably damaging Het
Or4l1 A G 14: 50,166,993 (GRCm39) Y3H probably benign Het
Pcdhb9 A T 18: 37,534,656 (GRCm39) T217S possibly damaging Het
Pcdhga2 A T 18: 37,803,605 (GRCm39) D483V possibly damaging Het
Pde5a G T 3: 122,596,681 (GRCm39) G456V probably damaging Het
Qser1 T C 2: 104,616,919 (GRCm39) T1298A probably benign Het
Rapgef5 T C 12: 117,685,064 (GRCm39) V303A probably damaging Het
Rbbp6 T G 7: 122,587,947 (GRCm39) M267R probably damaging Het
Rfx8 C A 1: 39,722,113 (GRCm39) V291F probably damaging Het
Rnf121 T C 7: 101,672,555 (GRCm39) K276R probably null Het
Rtca G T 3: 116,282,931 (GRCm39) Y352* probably null Het
Rusf1 C T 7: 127,884,308 (GRCm39) V225M probably damaging Het
Sacs T C 14: 61,443,549 (GRCm39) V1865A probably damaging Het
Sclt1 C T 3: 41,611,710 (GRCm39) E521K probably benign Het
Setd1a T C 7: 127,396,420 (GRCm39) probably null Het
Slc37a4 G T 9: 44,313,394 (GRCm39) V337L probably benign Het
Slc5a9 G T 4: 111,750,366 (GRCm39) S79* probably null Het
Snrpd2 T C 7: 18,885,247 (GRCm39) V36A probably benign Het
Spata31d1b A T 13: 59,864,486 (GRCm39) N545Y probably damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,237,471 (GRCm39) probably benign Het
St7 G A 6: 17,834,673 (GRCm39) V98I possibly damaging Het
Strip2 A T 6: 29,927,623 (GRCm39) I223F probably benign Het
Syn2 A C 6: 115,255,313 (GRCm39) N542H possibly damaging Het
Tbc1d2b T C 9: 90,109,496 (GRCm39) T327A probably benign Het
Timm44 A T 8: 4,319,992 (GRCm39) F59I possibly damaging Het
Tmem41b A T 7: 109,581,970 (GRCm39) C44* probably null Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Tusc3 A T 8: 39,597,947 (GRCm39) K188* probably null Het
Usp39 T A 6: 72,305,670 (GRCm39) Q371L probably benign Het
Vmn2r13 G T 5: 109,321,580 (GRCm39) N372K probably damaging Het
Zfp961 T A 8: 72,721,903 (GRCm39) Y139N probably damaging Het
Other mutations in Col5a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Col5a2 APN 1 45,432,037 (GRCm39) splice site probably benign
IGL00978:Col5a2 APN 1 45,415,899 (GRCm39) missense probably benign 0.01
IGL01366:Col5a2 APN 1 45,431,048 (GRCm39) missense possibly damaging 0.46
IGL01487:Col5a2 APN 1 45,415,899 (GRCm39) missense probably benign 0.01
IGL01820:Col5a2 APN 1 45,481,985 (GRCm39) missense unknown
IGL01980:Col5a2 APN 1 45,421,393 (GRCm39) splice site probably benign
IGL02063:Col5a2 APN 1 45,442,579 (GRCm39) critical splice donor site probably null
IGL02134:Col5a2 APN 1 45,430,230 (GRCm39) splice site probably null
IGL02233:Col5a2 APN 1 45,422,747 (GRCm39) splice site probably null
IGL02489:Col5a2 APN 1 45,431,971 (GRCm39) splice site probably null
IGL02928:Col5a2 APN 1 45,424,180 (GRCm39) missense probably benign 0.41
IGL02931:Col5a2 APN 1 45,424,225 (GRCm39) missense probably damaging 1.00
IGL03328:Col5a2 APN 1 45,415,306 (GRCm39) missense possibly damaging 0.94
Beatnik UTSW 1 45,415,938 (GRCm39) missense probably damaging 0.99
R0022:Col5a2 UTSW 1 45,422,843 (GRCm39) nonsense probably null
R0123:Col5a2 UTSW 1 45,446,195 (GRCm39) missense probably benign 0.28
R0180:Col5a2 UTSW 1 45,450,620 (GRCm39) missense probably damaging 1.00
R0225:Col5a2 UTSW 1 45,446,195 (GRCm39) missense probably benign 0.28
R0455:Col5a2 UTSW 1 45,421,262 (GRCm39) splice site probably benign
R0485:Col5a2 UTSW 1 45,417,642 (GRCm39) missense probably damaging 0.99
R0702:Col5a2 UTSW 1 45,419,291 (GRCm39) missense possibly damaging 0.54
R0745:Col5a2 UTSW 1 45,446,387 (GRCm39) splice site probably null
R1147:Col5a2 UTSW 1 45,415,931 (GRCm39) missense probably damaging 0.99
R1147:Col5a2 UTSW 1 45,415,931 (GRCm39) missense probably damaging 0.99
R1394:Col5a2 UTSW 1 45,442,579 (GRCm39) critical splice donor site probably null
R1494:Col5a2 UTSW 1 45,542,074 (GRCm39) start codon destroyed unknown
R1499:Col5a2 UTSW 1 45,450,626 (GRCm39) missense probably benign 0.00
R1733:Col5a2 UTSW 1 45,446,192 (GRCm39) missense possibly damaging 0.81
R1789:Col5a2 UTSW 1 45,433,936 (GRCm39) missense probably damaging 0.98
R1789:Col5a2 UTSW 1 45,417,465 (GRCm39) critical splice donor site probably null
R2114:Col5a2 UTSW 1 45,415,964 (GRCm39) missense probably damaging 0.98
R2915:Col5a2 UTSW 1 45,452,656 (GRCm39) missense probably damaging 1.00
R3861:Col5a2 UTSW 1 45,419,397 (GRCm39) missense probably damaging 0.98
R4015:Col5a2 UTSW 1 45,442,631 (GRCm39) missense probably benign 0.14
R4944:Col5a2 UTSW 1 45,415,855 (GRCm39) missense possibly damaging 0.75
R4982:Col5a2 UTSW 1 45,428,618 (GRCm39) missense possibly damaging 0.88
R5001:Col5a2 UTSW 1 45,542,058 (GRCm39) missense unknown
R5159:Col5a2 UTSW 1 45,425,991 (GRCm39) critical splice donor site probably null
R5197:Col5a2 UTSW 1 45,432,241 (GRCm39) missense probably benign 0.01
R5407:Col5a2 UTSW 1 45,445,440 (GRCm39) missense possibly damaging 0.54
R5575:Col5a2 UTSW 1 45,417,642 (GRCm39) missense probably damaging 0.99
R5622:Col5a2 UTSW 1 45,466,219 (GRCm39) missense probably benign
R5643:Col5a2 UTSW 1 45,429,202 (GRCm39) missense probably damaging 1.00
R5801:Col5a2 UTSW 1 45,428,641 (GRCm39) critical splice acceptor site probably null
R6075:Col5a2 UTSW 1 45,542,008 (GRCm39) missense unknown
R6211:Col5a2 UTSW 1 45,415,826 (GRCm39) missense probably damaging 0.99
R6407:Col5a2 UTSW 1 45,415,938 (GRCm39) missense probably damaging 0.99
R6494:Col5a2 UTSW 1 45,417,487 (GRCm39) missense probably damaging 0.99
R6582:Col5a2 UTSW 1 45,429,275 (GRCm39) missense possibly damaging 0.91
R6687:Col5a2 UTSW 1 45,422,764 (GRCm39) missense probably damaging 1.00
R7007:Col5a2 UTSW 1 45,417,609 (GRCm39) missense possibly damaging 0.53
R7062:Col5a2 UTSW 1 45,456,785 (GRCm39) missense probably benign 0.00
R7098:Col5a2 UTSW 1 45,419,227 (GRCm39) missense possibly damaging 0.48
R7243:Col5a2 UTSW 1 45,415,320 (GRCm39) missense probably benign 0.39
R7326:Col5a2 UTSW 1 45,482,027 (GRCm39) missense unknown
R7332:Col5a2 UTSW 1 45,419,325 (GRCm39) missense probably damaging 1.00
R7642:Col5a2 UTSW 1 45,415,248 (GRCm39) missense probably benign 0.01
R7890:Col5a2 UTSW 1 45,444,147 (GRCm39) splice site probably null
R8066:Col5a2 UTSW 1 45,452,628 (GRCm39) critical splice donor site probably null
R8375:Col5a2 UTSW 1 45,481,890 (GRCm39) missense unknown
R8444:Col5a2 UTSW 1 45,435,305 (GRCm39) missense probably benign 0.06
R8506:Col5a2 UTSW 1 45,481,944 (GRCm39) missense unknown
R8686:Col5a2 UTSW 1 45,461,147 (GRCm39) missense probably damaging 1.00
R8907:Col5a2 UTSW 1 45,456,106 (GRCm39) missense probably benign 0.27
R8932:Col5a2 UTSW 1 45,419,306 (GRCm39) missense probably benign 0.00
R8933:Col5a2 UTSW 1 45,461,123 (GRCm39) missense
R9087:Col5a2 UTSW 1 45,481,818 (GRCm39) missense unknown
R9105:Col5a2 UTSW 1 45,419,366 (GRCm39) missense probably benign 0.00
R9282:Col5a2 UTSW 1 45,478,029 (GRCm39) critical splice donor site probably null
R9457:Col5a2 UTSW 1 45,431,973 (GRCm39) critical splice donor site probably null
R9457:Col5a2 UTSW 1 45,426,004 (GRCm39) missense probably benign 0.00
R9568:Col5a2 UTSW 1 45,430,998 (GRCm39) missense possibly damaging 0.89
R9727:Col5a2 UTSW 1 45,415,818 (GRCm39) missense possibly damaging 0.50
X0013:Col5a2 UTSW 1 45,442,418 (GRCm39) critical splice donor site probably null
Z1176:Col5a2 UTSW 1 45,435,644 (GRCm39) missense probably benign 0.11
Z1176:Col5a2 UTSW 1 45,422,840 (GRCm39) missense probably damaging 1.00
Z1176:Col5a2 UTSW 1 45,415,306 (GRCm39) missense possibly damaging 0.94
Z1177:Col5a2 UTSW 1 45,442,633 (GRCm39) missense probably damaging 1.00
Z1177:Col5a2 UTSW 1 45,441,273 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGGAAGCAGTTGAGAATAACTC -3'
(R):5'- TGTCCCCACACAGCATAGTAAG -3'

Sequencing Primer
(F):5'- GTGGGATGGCAAAGCTTT -3'
(R):5'- ACACAGCATAGTAAGCAATTTCG -3'
Posted On 2016-10-05