Incidental Mutation 'R7062:Col5a2'
ID 548300
Institutional Source Beutler Lab
Gene Symbol Col5a2
Ensembl Gene ENSMUSG00000026042
Gene Name collagen, type V, alpha 2
Synonyms 1110014L14Rik
MMRRC Submission 045158-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7062 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 45413491-45542442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45456785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 306 (E306G)
Ref Sequence ENSEMBL: ENSMUSP00000083620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086430]
AlphaFold Q3U962
Predicted Effect probably benign
Transcript: ENSMUST00000086430
AA Change: E306G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042
AA Change: E306G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,544,872 (GRCm39) D1370V probably damaging Het
Ackr1 A T 1: 173,159,682 (GRCm39) I279N possibly damaging Het
Adcy10 A G 1: 165,366,091 (GRCm39) H536R probably benign Het
Adgrb3 T C 1: 25,865,166 (GRCm39) T226A possibly damaging Het
Apol10b T A 15: 77,469,473 (GRCm39) M235L probably benign Het
Arhgap44 T C 11: 64,902,758 (GRCm39) T570A probably benign Het
Astn1 A G 1: 158,516,081 (GRCm39) probably null Het
Camsap3 A G 8: 3,657,834 (GRCm39) probably benign Het
Ccdc73 C T 2: 104,782,223 (GRCm39) A193V probably damaging Het
Ccl20 G A 1: 83,095,535 (GRCm39) C32Y probably damaging Het
Cdk11b A G 4: 155,711,268 (GRCm39) E16G probably damaging Het
Celsr2 T A 3: 108,309,826 (GRCm39) N1591I possibly damaging Het
Cpa1 C T 6: 30,640,676 (GRCm39) A106V probably benign Het
Ctdspl G A 9: 118,866,538 (GRCm39) R199H probably damaging Het
Cyfip2 G A 11: 46,151,659 (GRCm39) P547S probably damaging Het
Cyp2c37 A T 19: 39,983,990 (GRCm39) probably null Het
Dnajc16 A G 4: 141,494,001 (GRCm39) F549L probably damaging Het
Dnm3 T A 1: 161,962,060 (GRCm39) K50* probably null Het
Eci1 C T 17: 24,645,714 (GRCm39) probably benign Het
Eif2b4 C T 5: 31,350,175 (GRCm39) C49Y probably benign Het
Emc3 A T 6: 113,499,757 (GRCm39) I56N probably damaging Het
Enthd1 A G 15: 80,336,745 (GRCm39) L563P probably damaging Het
Ercc4 T A 16: 12,950,811 (GRCm39) I635K probably damaging Het
Espl1 A C 15: 102,207,331 (GRCm39) N265T probably benign Het
Fads2 T C 19: 10,042,962 (GRCm39) probably null Het
Fam186a G A 15: 99,831,521 (GRCm39) probably benign Het
Fastkd1 A T 2: 69,534,666 (GRCm39) I368K possibly damaging Het
Fat1 G A 8: 45,403,253 (GRCm39) M1I probably null Het
Foxj1 T C 11: 116,222,819 (GRCm39) E328G probably benign Het
Gfod2 T C 8: 106,449,508 (GRCm39) probably benign Het
Gm6525 C T 3: 84,082,198 (GRCm39) R40C probably benign Het
Gna12 G A 5: 140,771,240 (GRCm39) T144I probably benign Het
Ighv9-3 T C 12: 114,104,712 (GRCm39) M11V probably benign Het
Kcnj14 T C 7: 45,467,314 (GRCm39) Y344C probably damaging Het
Lrrc63 A T 14: 75,323,737 (GRCm39) S496T probably benign Het
Ltn1 T C 16: 87,224,491 (GRCm39) T78A probably damaging Het
Matr3 T A 18: 35,712,072 (GRCm39) probably null Het
Mcpt4 A G 14: 56,298,125 (GRCm39) M142T probably benign Het
Mroh7 A G 4: 106,541,177 (GRCm39) F1154S probably damaging Het
Mrpl1 G T 5: 96,361,650 (GRCm39) L12F probably benign Het
Myo3b G A 2: 70,047,501 (GRCm39) V308I probably benign Het
Nfasc A G 1: 132,529,707 (GRCm39) probably null Het
Npc1l1 T A 11: 6,167,807 (GRCm39) M995L probably benign Het
Nvl A G 1: 180,939,899 (GRCm39) I617T probably benign Het
Oas1h C A 5: 120,999,528 (GRCm39) probably benign Het
Oasl2 T A 5: 115,049,152 (GRCm39) Y197* probably null Het
Or4k1 A G 14: 50,377,907 (GRCm39) L63P probably damaging Het
Or52ab7 T C 7: 102,978,293 (GRCm39) V200A probably benign Het
Or5an1c T C 19: 12,218,089 (GRCm39) N312S probably benign Het
Or5l13 T C 2: 87,780,568 (GRCm39) E3G probably benign Het
Or5p70 C T 7: 107,995,037 (GRCm39) R237* probably null Het
Or8g35 A T 9: 39,381,353 (GRCm39) I223N probably benign Het
Orc6 T C 8: 86,029,537 (GRCm39) V27A probably damaging Het
Parp4 A T 14: 56,852,216 (GRCm39) R799S possibly damaging Het
Pcdhga1 C A 18: 37,958,130 (GRCm39) S826R probably damaging Het
Phldb1 T C 9: 44,607,432 (GRCm39) R1258G probably damaging Het
Ppfia1 T C 7: 144,106,210 (GRCm39) S21G probably benign Het
Ppp1r18 C A 17: 36,179,103 (GRCm39) T326K probably damaging Het
Psg26 A G 7: 18,216,521 (GRCm39) L106P probably damaging Het
Rabgap1l A T 1: 160,054,220 (GRCm39) D265E probably benign Het
Rasgrp4 T C 7: 28,849,619 (GRCm39) L554P possibly damaging Het
Rnf17 G T 14: 56,703,111 (GRCm39) V621L probably benign Het
Sart3 T C 5: 113,883,663 (GRCm39) K783R possibly damaging Het
Slc23a2 T A 2: 131,933,189 (GRCm39) I90F probably damaging Het
Slc5a2 A T 7: 127,869,212 (GRCm39) M331L probably damaging Het
Slc5a7 C G 17: 54,600,029 (GRCm39) G128A probably damaging Het
Smcr8 A T 11: 60,671,180 (GRCm39) Q776L probably damaging Het
Smpd4 T A 16: 17,458,835 (GRCm39) D519E probably damaging Het
Smurf1 A T 5: 144,830,356 (GRCm39) probably null Het
Spata18 T A 5: 73,816,636 (GRCm39) N125K probably benign Het
Spice1 T A 16: 44,178,259 (GRCm39) M94K probably damaging Het
Stard4 T C 18: 33,338,587 (GRCm39) probably null Het
Stx17 A G 4: 48,140,442 (GRCm39) D49G probably benign Het
Tbce T C 13: 14,194,380 (GRCm39) D93G possibly damaging Het
Tbx21 T A 11: 96,989,719 (GRCm39) D491V probably damaging Het
Tmbim4 G T 10: 120,044,731 (GRCm39) probably benign Het
Tmem209 C T 6: 30,502,016 (GRCm39) R62H probably damaging Het
Tmem237 A T 1: 59,158,771 (GRCm39) probably null Het
Tmprss9 T C 10: 80,730,883 (GRCm39) I803T probably benign Het
Trip4 C T 9: 65,792,292 (GRCm39) A7T probably benign Het
Unc13a T C 8: 72,115,881 (GRCm39) D107G probably benign Het
Uso1 C A 5: 92,340,599 (GRCm39) Q672K possibly damaging Het
Washc2 T A 6: 116,196,949 (GRCm39) N239K possibly damaging Het
Zfp661 A G 2: 127,419,040 (GRCm39) C367R probably damaging Het
Znrf3 T A 11: 5,231,550 (GRCm39) E558D 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
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
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'- CTTTGCATAGAATAAAGCAACCAGG -3'
(R):5'- TGCTGTATTATCTAGCAAGTAACATGC -3'

Sequencing Primer
(F):5'- AAGCAACCAGGAAACTTTTTATTTAC -3'
(R):5'- GGAAGTCATTACATTTTTGATGACTG -3'
Posted On 2019-05-13