Incidental Mutation 'R1295:Col5a3'
ID 158069
Institutional Source Beutler Lab
Gene Symbol Col5a3
Ensembl Gene ENSMUSG00000004098
Gene Name collagen, type V, alpha 3
Synonyms Pro-alpha3(V)
MMRRC Submission 039361-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R1295 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 20681353-20726363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20719714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 215 (F215S)
Ref Sequence ENSEMBL: ENSMUSP00000004201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004201]
AlphaFold Q9JLI2
Predicted Effect unknown
Transcript: ENSMUST00000004201
AA Change: F215S
SMART Domains Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098
AA Change: F215S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157103
Meta Mutation Damage Score 0.1519 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.1%
  • 20x: 82.0%
Validation Efficiency 98% (81/83)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,737,783 (GRCm39) S53G possibly damaging Het
Adgrb1 T A 15: 74,421,888 (GRCm39) L886Q probably damaging Het
Adprhl1 G A 8: 13,298,624 (GRCm39) T102M probably damaging Het
Akap6 A C 12: 52,933,812 (GRCm39) K435Q probably damaging Het
Aldh7a1 T C 18: 56,680,022 (GRCm39) probably null Het
Amfr T C 8: 94,701,432 (GRCm39) R507G probably benign Het
Ap1m1 T A 8: 73,005,719 (GRCm39) probably null Het
Arhgap29 A G 3: 121,786,044 (GRCm39) H275R probably benign Het
Arhgef17 C A 7: 100,530,476 (GRCm39) E428* probably null Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atn1 G T 6: 124,724,750 (GRCm39) P161Q unknown Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Ccar1 C A 10: 62,619,661 (GRCm39) probably null Het
Cdk18 T C 1: 132,047,698 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Decr1 T C 4: 15,919,207 (GRCm39) N312S possibly damaging Het
Diaph3 A T 14: 87,244,835 (GRCm39) W178R probably damaging Het
Dync2h1 A G 9: 7,075,752 (GRCm39) probably benign Het
Ehd3 C A 17: 74,135,181 (GRCm39) D352E probably damaging Het
Enpp6 T G 8: 47,518,535 (GRCm39) I221S probably benign Het
Fam186a T C 15: 99,837,670 (GRCm39) probably benign Het
Gm5435 G T 12: 82,542,558 (GRCm39) noncoding transcript Het
Gpr22 A C 12: 31,759,513 (GRCm39) I203S probably benign Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Grik3 G A 4: 125,598,357 (GRCm39) probably benign Het
Gstcd T C 3: 132,711,389 (GRCm39) N431D probably damaging Het
H1f5 T C 13: 21,964,169 (GRCm39) S186G probably benign Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Ift140 G T 17: 25,307,907 (GRCm39) probably null Het
Ikbke A G 1: 131,197,963 (GRCm39) V381A probably benign Het
Ing1 A C 8: 11,611,501 (GRCm39) I38L probably benign Het
Ing1 T A 8: 11,611,502 (GRCm39) I38N probably damaging Het
Itga4 A G 2: 79,153,033 (GRCm39) M907V possibly damaging Het
Kcnk12 C T 17: 88,053,801 (GRCm39) G287D probably damaging Het
Kmt2e A C 5: 23,707,402 (GRCm39) H1655P probably damaging Het
Mbtd1 A G 11: 93,801,185 (GRCm39) Y122C probably damaging Het
Mif-ps9 T A 19: 56,743,766 (GRCm39) noncoding transcript Het
Mslnl T C 17: 25,962,214 (GRCm39) L204P probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Nav3 T A 10: 109,527,963 (GRCm39) D2240V probably damaging Het
Ndufaf3 T C 9: 108,443,892 (GRCm39) T9A probably damaging Het
Numb C A 12: 83,842,935 (GRCm39) probably benign Het
Prodh2 T C 7: 30,193,514 (GRCm39) V79A probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Rnf19a G T 15: 36,244,247 (GRCm39) Y604* probably null Het
Ros1 T A 10: 51,964,028 (GRCm39) E1744V possibly damaging Het
Rpusd2 T C 2: 118,867,408 (GRCm39) F219L probably benign Het
Sall2 T C 14: 52,551,182 (GRCm39) N671S probably damaging Het
Sele T A 1: 163,878,379 (GRCm39) S239R probably damaging Het
Serpina3b T C 12: 104,097,138 (GRCm39) F140L probably damaging Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sufu G A 19: 46,443,159 (GRCm39) probably benign Het
Tbx2 A G 11: 85,725,592 (GRCm39) E181G probably damaging Het
Thumpd2 A G 17: 81,363,317 (GRCm39) V50A probably damaging Het
Tlcd4 A G 3: 121,000,940 (GRCm39) V231A probably benign Het
Ttn C A 2: 76,573,589 (GRCm39) R17441L probably damaging Het
Usp34 A G 11: 23,334,477 (GRCm39) Y1157C probably damaging Het
Vmn1r9 T C 6: 57,048,522 (GRCm39) V199A probably damaging Het
Vmn2r6 A G 3: 64,445,694 (GRCm39) F677S probably damaging Het
Vmn2r84 C T 10: 130,225,008 (GRCm39) A501T probably benign Het
Wapl C T 14: 34,446,726 (GRCm39) P605S probably damaging Het
Zfp598 A G 17: 24,898,623 (GRCm39) N474S probably benign Het
Zfyve26 A G 12: 79,321,694 (GRCm39) L975P probably damaging Het
Zp3r C T 1: 130,519,181 (GRCm39) G255D 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
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
Predicted Primers PCR Primer
(F):5'- GTGATCTGCCCTGAGTTTCCAGTC -3'
(R):5'- ACCCTCACACTGGGTGTGTTTTG -3'

Sequencing Primer
(F):5'- GCCCTGAGTTTCCAGTCTAAAG -3'
(R):5'- GAGATCGTTGCTTCTTTGCTAC -3'
Posted On 2014-02-18