Incidental Mutation 'R2915:Col5a2'
ID 254824
Institutional Source Beutler Lab
Gene Symbol Col5a2
Ensembl Gene ENSMUSG00000026042
Gene Name collagen, type V, alpha 2
Synonyms 1110014L14Rik
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 45413491-45542442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 45452656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 358 (G358R)
Ref Sequence ENSEMBL: ENSMUSP00000083620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086430]
AlphaFold Q3U962
Predicted Effect probably damaging
Transcript: ENSMUST00000086430
AA Change: G358R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: G358R

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 noncoding transcript
Transcript: ENSMUST00000131535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134681
Meta Mutation Damage Score 0.9615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
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'- TGTAGATTTAAGCACATCCTCCTC -3'
(R):5'- GGGTTTACCTGACACAGCATG -3'

Sequencing Primer
(F):5'- TTCACTCTACACAACAGCATTAATAG -3'
(R):5'- GGTTTACCTGACACAGCATGATACAG -3'
Posted On 2014-12-29