Incidental Mutation 'R1789:Col5a2'
ID 201573
Institutional Source Beutler Lab
Gene Symbol Col5a2
Ensembl Gene ENSMUSG00000026042
Gene Name collagen, type V, alpha 2
Synonyms 1110014L14Rik
MMRRC Submission 039820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 45413491-45542442 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 45417465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086430] [ENSMUST00000086430]
AlphaFold Q3U962
Predicted Effect probably null
Transcript: ENSMUST00000086430
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

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
Predicted Effect probably null
Transcript: ENSMUST00000086430
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,184,701 (GRCm39) P986L probably damaging Het
Acad10 A T 5: 121,769,456 (GRCm39) Y667N possibly damaging Het
Ahi1 G A 10: 20,839,014 (GRCm39) G121D probably benign Het
Ampd1 T A 3: 103,006,442 (GRCm39) I690N possibly damaging Het
Amy1 C A 3: 113,351,814 (GRCm39) W425L possibly damaging Het
Arhgap27 A T 11: 103,223,831 (GRCm39) V823E probably damaging Het
Arhgef17 A G 7: 100,579,077 (GRCm39) S624P probably damaging Het
Arid5b T C 10: 68,021,897 (GRCm39) H231R probably damaging Het
Aspscr1 C A 11: 120,579,386 (GRCm39) T78N probably damaging Het
Auts2 T A 5: 131,501,288 (GRCm39) T42S probably damaging Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap61 T C 2: 145,781,913 (GRCm39) probably null Het
Chrna5 T C 9: 54,911,935 (GRCm39) V245A possibly damaging Het
Cntnap5c G A 17: 58,320,916 (GRCm39) G163R probably damaging Het
Comp A G 8: 70,829,796 (GRCm39) D340G probably benign Het
Cyfip1 T A 7: 55,576,143 (GRCm39) D1104E probably damaging Het
Dnah11 A T 12: 118,002,515 (GRCm39) S308T probably damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Elp3 A G 14: 65,785,368 (GRCm39) Y478H probably damaging Het
Fam237b A T 5: 5,625,652 (GRCm39) Q116L possibly damaging Het
Fat3 T C 9: 16,288,281 (GRCm39) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm39) A574S probably damaging Het
Fsip2 G T 2: 82,807,906 (GRCm39) L1408F probably benign Het
Fubp3 T C 2: 31,501,747 (GRCm39) V425A possibly damaging Het
Gm7168 A T 17: 14,169,846 (GRCm39) R404S probably benign Het
Gpd1 T G 15: 99,621,083 (GRCm39) F299C probably damaging Het
Gpr137 C T 19: 6,919,425 (GRCm39) probably benign Het
Grin3b T C 10: 79,809,242 (GRCm39) S331P probably benign Het
Grk3 T A 5: 113,089,584 (GRCm39) I281F probably damaging Het
Hoxb7 T A 11: 96,177,607 (GRCm39) S18R probably damaging Het
Igf1r C T 7: 67,864,681 (GRCm39) R1160* probably null Het
Itfg1 A G 8: 86,452,141 (GRCm39) probably null Het
Itgb8 T C 12: 119,166,190 (GRCm39) I114V probably benign Het
Kcnk1 A G 8: 126,752,123 (GRCm39) E243G possibly damaging Het
Kif27 A G 13: 58,491,822 (GRCm39) L439P probably damaging Het
Kif2c T A 4: 117,024,558 (GRCm39) Q279L probably benign Het
Kmt2d A T 15: 98,749,955 (GRCm39) probably benign Het
L3mbtl1 A G 2: 162,816,422 (GRCm39) T821A probably benign Het
Lrrc24 A T 15: 76,606,778 (GRCm39) M206K probably benign Het
Mamdc4 T G 2: 25,457,634 (GRCm39) K460Q possibly damaging Het
Maml2 C G 9: 13,608,641 (GRCm39) L30V probably damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Myo10 T G 15: 25,726,611 (GRCm39) probably null Het
Myo1e T A 9: 70,246,066 (GRCm39) L419Q probably damaging Het
Myo6 C A 9: 80,207,854 (GRCm39) H1115Q probably damaging Het
Myo7a A G 7: 97,756,302 (GRCm39) V10A probably damaging Het
Myoz2 C T 3: 122,819,776 (GRCm39) R61H probably damaging Het
Ncdn G A 4: 126,645,796 (GRCm39) R38C probably damaging Het
Nckap1 T A 2: 80,350,900 (GRCm39) T736S probably benign Het
Ncor2 G A 5: 125,096,954 (GRCm39) A2325V probably damaging Het
Nid2 T A 14: 19,802,499 (GRCm39) V140E possibly damaging Het
Nlrp9c C A 7: 26,079,915 (GRCm39) D704Y probably benign Het
Notch3 T A 17: 32,377,699 (GRCm39) S126C probably damaging Het
Or2g7 T C 17: 38,378,839 (GRCm39) I259T probably damaging Het
Or5p60 A G 7: 107,724,122 (GRCm39) F116S probably benign Het
Or5w10 A T 2: 87,375,327 (GRCm39) L187H probably damaging Het
Or6c219 A T 10: 129,781,451 (GRCm39) L160* probably null Het
Or6c6c T C 10: 129,541,476 (GRCm39) M243T possibly damaging Het
Or6d15 A C 6: 116,559,658 (GRCm39) F83C probably damaging Het
Pdzd7 A G 19: 45,027,667 (GRCm39) I269T probably damaging Het
Phf3 A T 1: 30,845,287 (GRCm39) D1299E probably damaging Het
Pitx2 T A 3: 129,012,403 (GRCm39) Y271N probably damaging Het
Polk T C 13: 96,633,140 (GRCm39) E301G probably damaging Het
Prkdc C A 16: 15,557,388 (GRCm39) N2230K probably damaging Het
Prlr A G 15: 10,322,622 (GRCm39) E170G probably benign Het
Prss55 A G 14: 64,313,179 (GRCm39) I235T probably damaging Het
Psd3 T C 8: 68,413,217 (GRCm39) I724V probably benign Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rbm26 T A 14: 105,354,509 (GRCm39) K949N probably benign Het
Rnf213 T A 11: 119,331,047 (GRCm39) D2085E probably damaging Het
Serpinb7 A T 1: 107,378,003 (GRCm39) H232L possibly damaging Het
Slu7 A G 11: 43,336,069 (GRCm39) Q484R probably benign Het
Smg1 A G 7: 117,745,021 (GRCm39) S3044P possibly damaging Het
Snrnp48 A G 13: 38,405,336 (GRCm39) D248G possibly damaging Het
Snrpc C A 17: 28,064,193 (GRCm39) P66Q unknown Het
Snrpn T A 7: 59,633,207 (GRCm39) probably benign Het
Spag17 T A 3: 99,846,672 (GRCm39) S65R possibly damaging Het
Srsf6 C A 2: 162,776,408 (GRCm39) probably benign Het
Stil T A 4: 114,898,979 (GRCm39) M1203K probably benign Het
Syt17 T C 7: 118,036,061 (GRCm39) T106A probably benign Het
Tbx15 C T 3: 99,259,562 (GRCm39) Q478* probably null Het
Tg A T 15: 66,609,397 (GRCm39) Q319L probably benign Het
Thada A G 17: 84,755,461 (GRCm39) L243P probably damaging Het
Thada G T 17: 84,755,462 (GRCm39) L243I probably damaging Het
Tnnt3 A G 7: 142,066,101 (GRCm39) R211G probably damaging Het
Togaram1 A T 12: 65,049,409 (GRCm39) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,552,379 (GRCm39) M91R probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll7 T G 3: 146,621,535 (GRCm39) L378R probably damaging Het
Tyw1 T G 5: 130,287,834 (GRCm39) I22R probably damaging Het
Ubr3 T C 2: 69,846,711 (GRCm39) S1645P possibly damaging Het
Ubr4 T C 4: 139,120,364 (GRCm39) L263P probably damaging Het
Unc13c T C 9: 73,663,621 (GRCm39) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,383,122 (GRCm39) D157E possibly damaging Het
Vps16 C T 2: 130,285,520 (GRCm39) T821I probably benign Het
Washc4 T C 10: 83,415,389 (GRCm39) V793A possibly damaging Het
Wdr35 G T 12: 9,027,435 (GRCm39) probably null Het
Zfp277 A G 12: 40,414,084 (GRCm39) F254L probably benign 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
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
R5502:Col5a2 UTSW 1 45,419,286 (GRCm39) missense probably damaging 1.00
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'- AGGTCAGCTTTACCACCCTTAC -3'
(R):5'- CAGGGATCAGCTGAAGATGC -3'

Sequencing Primer
(F):5'- TTTCCTGGAGTTGAGACAAGACCC -3'
(R):5'- CAGCTGAAGATGCAATCAAAGTTTAC -3'
Posted On 2014-06-23