Incidental Mutation 'R4713:Col5a3'
ID 353377
Institutional Source Beutler Lab
Gene Symbol Col5a3
Ensembl Gene ENSMUSG00000004098
Gene Name collagen, type V, alpha 3
Synonyms Pro-alpha3(V)
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 20681353-20726363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20704870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 762 (E762G)
Ref Sequence ENSEMBL: ENSMUSP00000004201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004201]
AlphaFold Q9JLI2
Predicted Effect unknown
Transcript: ENSMUST00000004201
AA Change: E762G
SMART Domains Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: E762G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TSPN 32 211 7.08e-28 SMART
LamG 89 210 2.13e-2 SMART
low complexity region 247 267 N/A INTRINSIC
low complexity region 295 314 N/A INTRINSIC
low complexity region 341 347 N/A INTRINSIC
low complexity region 369 381 N/A INTRINSIC
low complexity region 391 434 N/A INTRINSIC
low complexity region 461 474 N/A INTRINSIC
Pfam:Collagen 475 538 5.5e-10 PFAM
low complexity region 597 616 N/A INTRINSIC
low complexity region 628 694 N/A INTRINSIC
internal_repeat_3 703 737 7.13e-16 PROSPERO
low complexity region 742 821 N/A INTRINSIC
low complexity region 823 844 N/A INTRINSIC
low complexity region 859 889 N/A INTRINSIC
internal_repeat_2 892 1081 5.05e-17 PROSPERO
internal_repeat_1 996 1133 7.47e-22 PROSPERO
internal_repeat_3 1105 1139 7.13e-16 PROSPERO
low complexity region 1140 1165 N/A INTRINSIC
low complexity region 1168 1255 N/A INTRINSIC
low complexity region 1258 1282 N/A INTRINSIC
low complexity region 1285 1306 N/A INTRINSIC
low complexity region 1311 1418 N/A INTRINSIC
Pfam:Collagen 1429 1491 9.5e-10 PFAM
COLFI 1508 1738 7.98e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145974
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Col5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Col5a3 APN 9 20,697,685 (GRCm39) nonsense probably null
IGL01548:Col5a3 APN 9 20,714,296 (GRCm39) splice site probably benign
IGL02164:Col5a3 APN 9 20,703,939 (GRCm39) critical splice donor site probably null
IGL02297:Col5a3 APN 9 20,683,450 (GRCm39) missense unknown
IGL02333:Col5a3 APN 9 20,710,602 (GRCm39) missense unknown
IGL02349:Col5a3 APN 9 20,683,657 (GRCm39) missense unknown
IGL02390:Col5a3 APN 9 20,688,292 (GRCm39) missense unknown
IGL02685:Col5a3 APN 9 20,683,501 (GRCm39) missense unknown
IGL02941:Col5a3 APN 9 20,715,962 (GRCm39) missense unknown
IGL03001:Col5a3 APN 9 20,719,040 (GRCm39) missense unknown
IGL03061:Col5a3 APN 9 20,708,868 (GRCm39) critical splice donor site probably null
IGL03102:Col5a3 APN 9 20,715,931 (GRCm39) critical splice donor site probably null
IGL03308:Col5a3 APN 9 20,719,675 (GRCm39) missense unknown
IGL03372:Col5a3 APN 9 20,686,624 (GRCm39) missense unknown
Guppy UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
minifish UTSW 9 20,696,882 (GRCm39) missense probably damaging 0.99
R0002:Col5a3 UTSW 9 20,721,152 (GRCm39) critical splice acceptor site probably null
R0012:Col5a3 UTSW 9 20,688,404 (GRCm39) splice site probably benign
R0316:Col5a3 UTSW 9 20,686,621 (GRCm39) missense unknown
R0357:Col5a3 UTSW 9 20,719,064 (GRCm39) splice site probably benign
R0360:Col5a3 UTSW 9 20,683,762 (GRCm39) missense unknown
R0483:Col5a3 UTSW 9 20,693,777 (GRCm39) splice site probably null
R0485:Col5a3 UTSW 9 20,694,004 (GRCm39) missense probably damaging 0.99
R0627:Col5a3 UTSW 9 20,686,781 (GRCm39) missense unknown
R1035:Col5a3 UTSW 9 20,704,795 (GRCm39) splice site probably benign
R1051:Col5a3 UTSW 9 20,686,531 (GRCm39) missense unknown
R1295:Col5a3 UTSW 9 20,719,714 (GRCm39) missense unknown
R1438:Col5a3 UTSW 9 20,691,253 (GRCm39) missense probably damaging 0.99
R1622:Col5a3 UTSW 9 20,683,516 (GRCm39) missense unknown
R1668:Col5a3 UTSW 9 20,682,392 (GRCm39) missense unknown
R1680:Col5a3 UTSW 9 20,695,964 (GRCm39) critical splice donor site probably null
R2112:Col5a3 UTSW 9 20,721,073 (GRCm39) missense unknown
R2149:Col5a3 UTSW 9 20,682,566 (GRCm39) missense unknown
R2159:Col5a3 UTSW 9 20,682,606 (GRCm39) missense unknown
R2939:Col5a3 UTSW 9 20,706,954 (GRCm39) missense unknown
R3236:Col5a3 UTSW 9 20,718,949 (GRCm39) missense unknown
R3845:Col5a3 UTSW 9 20,719,673 (GRCm39) missense unknown
R4598:Col5a3 UTSW 9 20,685,855 (GRCm39) critical splice donor site probably null
R4599:Col5a3 UTSW 9 20,685,855 (GRCm39) critical splice donor site probably null
R4611:Col5a3 UTSW 9 20,726,192 (GRCm39) unclassified probably benign
R4723:Col5a3 UTSW 9 20,720,887 (GRCm39) missense unknown
R5209:Col5a3 UTSW 9 20,689,939 (GRCm39) intron probably benign
R5336:Col5a3 UTSW 9 20,710,597 (GRCm39) missense unknown
R5378:Col5a3 UTSW 9 20,708,872 (GRCm39) missense unknown
R5614:Col5a3 UTSW 9 20,694,772 (GRCm39) splice site probably benign
R5775:Col5a3 UTSW 9 20,712,368 (GRCm39) missense unknown
R5895:Col5a3 UTSW 9 20,683,738 (GRCm39) missense unknown
R6048:Col5a3 UTSW 9 20,718,915 (GRCm39) missense unknown
R6265:Col5a3 UTSW 9 20,705,060 (GRCm39) missense unknown
R6372:Col5a3 UTSW 9 20,696,882 (GRCm39) missense probably damaging 0.99
R6520:Col5a3 UTSW 9 20,685,348 (GRCm39) missense unknown
R6558:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6608:Col5a3 UTSW 9 20,685,315 (GRCm39) missense unknown
R6679:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6680:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6696:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6698:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6700:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6708:Col5a3 UTSW 9 20,686,331 (GRCm39) missense unknown
R6712:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6714:Col5a3 UTSW 9 20,690,329 (GRCm39) missense probably damaging 1.00
R6828:Col5a3 UTSW 9 20,709,748 (GRCm39) missense unknown
R7343:Col5a3 UTSW 9 20,705,242 (GRCm39) critical splice donor site probably null
R7431:Col5a3 UTSW 9 20,682,131 (GRCm39) makesense probably null
R7500:Col5a3 UTSW 9 20,711,585 (GRCm39) missense unknown
R7592:Col5a3 UTSW 9 20,708,689 (GRCm39) missense unknown
R7671:Col5a3 UTSW 9 20,686,382 (GRCm39) critical splice acceptor site probably null
R7957:Col5a3 UTSW 9 20,685,347 (GRCm39) missense unknown
R8510:Col5a3 UTSW 9 20,705,028 (GRCm39) missense unknown
R8979:Col5a3 UTSW 9 20,686,597 (GRCm39) missense unknown
R9050:Col5a3 UTSW 9 20,697,691 (GRCm39) missense probably damaging 1.00
R9052:Col5a3 UTSW 9 20,710,733 (GRCm39) missense unknown
R9072:Col5a3 UTSW 9 20,682,453 (GRCm39) missense unknown
R9341:Col5a3 UTSW 9 20,704,909 (GRCm39) missense unknown
R9343:Col5a3 UTSW 9 20,704,909 (GRCm39) missense unknown
R9529:Col5a3 UTSW 9 20,685,308 (GRCm39) critical splice donor site probably null
R9562:Col5a3 UTSW 9 20,714,429 (GRCm39) missense unknown
R9781:Col5a3 UTSW 9 20,721,272 (GRCm39) missense unknown
Z1177:Col5a3 UTSW 9 20,686,630 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATGAAGTATGCCGGGTTAGCTC -3'
(R):5'- TTCAAGGGTGATGAGGGACC -3'

Sequencing Primer
(F):5'- TGTCCAGAATCCCCCAGTGAG -3'
(R):5'- CCAAAAGGCGACCGGGTAAG -3'
Posted On 2015-10-21