Incidental Mutation 'IGL02349:Col5a3'
ID 289430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col5a3
Ensembl Gene ENSMUSG00000004098
Gene Name collagen, type V, alpha 3
Synonyms Pro-alpha3(V)
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # IGL02349
Quality Score
Status
Chromosome 9
Chromosomal Location 20681353-20726363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20683657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1533 (E1533G)
Ref Sequence ENSEMBL: ENSMUSP00000004201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004201]
AlphaFold Q9JLI2
Predicted Effect unknown
Transcript: ENSMUST00000004201
AA Change: E1533G
SMART Domains Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: E1533G

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,462 (GRCm39) I484V probably benign Het
Acly C T 11: 100,410,505 (GRCm39) E158K probably benign Het
Akap3 T A 6: 126,837,226 (GRCm39) D3E probably benign Het
Alg8 A G 7: 97,029,101 (GRCm39) N152S possibly damaging Het
Ano7 A G 1: 93,319,212 (GRCm39) T323A probably benign Het
Bmp1 T C 14: 70,744,989 (GRCm39) Y252C possibly damaging Het
Cacnb3 A T 15: 98,538,842 (GRCm39) K159* probably null Het
Capns2 T A 8: 93,628,690 (GRCm39) V193D probably benign Het
Cct2 A G 10: 116,889,044 (GRCm39) I48T probably benign Het
Cep152 A G 2: 125,436,876 (GRCm39) S555P probably damaging Het
Cyp17a1 A G 19: 46,655,936 (GRCm39) L451P probably damaging Het
Dgcr8 T C 16: 18,098,170 (GRCm39) E407G possibly damaging Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Fgfr2 A G 7: 129,844,336 (GRCm39) Y50H probably damaging Het
Gars1 T A 6: 55,025,049 (GRCm39) probably benign Het
Gfpt2 A T 11: 49,698,530 (GRCm39) I42F probably benign Het
Glcci1 A G 6: 8,558,581 (GRCm39) K35E probably damaging Het
Gpatch1 T A 7: 35,006,680 (GRCm39) M163L probably damaging Het
Gpr132 T C 12: 112,816,475 (GRCm39) Y117C probably damaging Het
Ints1 G A 5: 139,754,223 (GRCm39) P650S probably damaging Het
Itga2b T C 11: 102,352,189 (GRCm39) D464G probably damaging Het
Kansl2 C A 15: 98,427,327 (GRCm39) G185C probably damaging Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Macir A G 1: 97,573,777 (GRCm39) L96P probably damaging Het
Map3k19 T A 1: 127,751,506 (GRCm39) D615V possibly damaging Het
Map3k7cl A G 16: 87,352,901 (GRCm39) probably benign Het
Msto1 A C 3: 88,818,205 (GRCm39) S360R possibly damaging Het
Myo15b C A 11: 115,753,931 (GRCm39) probably benign Het
Nhlrc2 T C 19: 56,580,151 (GRCm39) V428A possibly damaging Het
Or13a28 T C 7: 140,218,384 (GRCm39) F257L probably benign Het
Or1j19 A C 2: 36,677,058 (GRCm39) T174P possibly damaging Het
Or51a39 G A 7: 102,363,333 (GRCm39) R96C probably damaging Het
Or51f2 A T 7: 102,527,116 (GRCm39) Y263F probably benign Het
Or5p51 A G 7: 107,444,812 (GRCm39) S43P probably benign Het
Or8b12 T A 9: 37,657,502 (GRCm39) M24K probably benign Het
Pcm1 G T 8: 41,741,192 (GRCm39) probably null Het
Plekhg3 A T 12: 76,609,074 (GRCm39) N149I probably damaging Het
Rbp3 C A 14: 33,677,676 (GRCm39) H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 (GRCm39) probably null Het
Scyl2 A T 10: 89,493,800 (GRCm39) probably benign Het
Tas2r144 A C 6: 42,193,010 (GRCm39) H250P probably benign Het
Tmppe T C 9: 114,234,268 (GRCm39) V189A probably benign Het
Trp53bp1 G A 2: 121,029,555 (GRCm39) S1875L probably damaging Het
Txnl4a T A 18: 80,261,944 (GRCm39) L60H probably damaging Het
Upp2 A G 2: 58,667,898 (GRCm39) D217G probably benign Het
Vmn2r74 A G 7: 85,601,724 (GRCm39) L638P probably damaging Het
Vnn1 A G 10: 23,774,401 (GRCm39) N148S possibly damaging Het
Xrcc1 C T 7: 24,266,467 (GRCm39) Q241* probably null Het
Zfp990 A G 4: 145,257,447 (GRCm39) probably benign 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
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
R4713:Col5a3 UTSW 9 20,704,870 (GRCm39) missense unknown
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
Posted On 2015-04-16