Incidental Mutation 'R4297:Col5a1'
ID 323376
Institutional Source Beutler Lab
Gene Symbol Col5a1
Ensembl Gene ENSMUSG00000026837
Gene Name collagen, type V, alpha 1
Synonyms
MMRRC Submission 041085-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4297 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 27776437-27929526 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 27907216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028280] [ENSMUST00000145423]
AlphaFold O88207
Predicted Effect probably null
Transcript: ENSMUST00000028280
SMART Domains Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
TSPN 39 230 5.7e-73 SMART
LamG 98 229 6.86e-3 SMART
low complexity region 259 288 N/A INTRINSIC
low complexity region 300 314 N/A INTRINSIC
low complexity region 335 352 N/A INTRINSIC
low complexity region 374 387 N/A INTRINSIC
low complexity region 412 428 N/A INTRINSIC
internal_repeat_7 443 457 9.97e-7 PROSPERO
Pfam:Collagen 467 519 4e-10 PFAM
Pfam:Collagen 557 619 6.5e-9 PFAM
internal_repeat_2 622 642 1.83e-11 PROSPERO
low complexity region 643 698 N/A INTRINSIC
low complexity region 712 757 N/A INTRINSIC
low complexity region 760 793 N/A INTRINSIC
internal_repeat_5 794 817 3.78e-8 PROSPERO
internal_repeat_7 798 812 9.97e-7 PROSPERO
internal_repeat_8 802 821 8.84e-6 PROSPERO
low complexity region 826 862 N/A INTRINSIC
internal_repeat_3 865 889 2.79e-10 PROSPERO
internal_repeat_5 869 892 3.78e-8 PROSPERO
low complexity region 895 925 N/A INTRINSIC
internal_repeat_2 928 948 1.83e-11 PROSPERO
internal_repeat_4 928 948 1.27e-8 PROSPERO
low complexity region 949 979 N/A INTRINSIC
low complexity region 984 1033 N/A INTRINSIC
internal_repeat_4 1039 1062 1.27e-8 PROSPERO
internal_repeat_1 1039 1063 5.12e-15 PROSPERO
internal_repeat_3 1048 1072 2.79e-10 PROSPERO
internal_repeat_6 1049 1072 1.13e-7 PROSPERO
low complexity region 1075 1117 N/A INTRINSIC
low complexity region 1134 1165 N/A INTRINSIC
low complexity region 1174 1193 N/A INTRINSIC
internal_repeat_8 1195 1214 8.84e-6 PROSPERO
low complexity region 1215 1243 N/A INTRINSIC
low complexity region 1249 1282 N/A INTRINSIC
low complexity region 1285 1421 N/A INTRINSIC
internal_repeat_1 1423 1447 5.12e-15 PROSPERO
Pfam:Collagen 1460 1529 8.4e-9 PFAM
Pfam:Collagen 1513 1575 1.2e-9 PFAM
COLFI 1608 1837 3.33e-153 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145423
SMART Domains Protein: ENSMUSP00000123532
Gene: ENSMUSG00000026837

DomainStartEndE-ValueType
Pfam:Collagen 1 50 2.7e-10 PFAM
COLFI 119 348 3.33e-153 SMART
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 85% (33/39)
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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Alkbh3 C T 2: 93,838,469 (GRCm39) R34H probably benign Het
Cacna1e T G 1: 154,274,477 (GRCm39) S2143R probably benign Het
Camkk2 A G 5: 122,883,769 (GRCm39) probably null Het
Cep295 A G 9: 15,233,950 (GRCm39) V2282A probably benign Het
Cfap46 A C 7: 139,232,589 (GRCm39) D827E probably benign Het
Col6a3 T A 1: 90,739,100 (GRCm39) E376V probably damaging Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp2a4 A G 7: 26,006,793 (GRCm39) T51A probably damaging Het
Dgke A T 11: 88,941,556 (GRCm39) V273D probably damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Fpr-rs3 A T 17: 20,845,008 (GRCm39) N44K probably damaging Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gm6818 A T 7: 38,101,877 (GRCm39) noncoding transcript Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Gsto2 A C 19: 47,864,935 (GRCm39) E156A possibly damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Mc5r T C 18: 68,472,378 (GRCm39) F246L probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a21 G A 7: 44,937,186 (GRCm39) V239M possibly damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Ttn C A 2: 76,556,607 (GRCm39) G30133C probably damaging Het
Ugt1a8 T C 1: 88,015,826 (GRCm39) S80P probably benign Het
Vax1 G T 19: 59,154,683 (GRCm39) S318* probably null Het
Vcam1 A T 3: 115,910,892 (GRCm39) V502E probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Vps18 T A 2: 119,127,812 (GRCm39) C878* probably null Het
Wdr11 A G 7: 129,226,910 (GRCm39) R791G probably benign Het
Other mutations in Col5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Col5a1 APN 2 27,861,456 (GRCm39) splice site probably benign
IGL01340:Col5a1 APN 2 27,850,463 (GRCm39) missense unknown
IGL01938:Col5a1 APN 2 27,886,885 (GRCm39) missense unknown
IGL02167:Col5a1 APN 2 27,908,568 (GRCm39) missense probably benign
IGL02670:Col5a1 APN 2 27,864,727 (GRCm39) missense unknown
IGL02672:Col5a1 APN 2 27,864,727 (GRCm39) missense unknown
IGL02673:Col5a1 APN 2 27,864,727 (GRCm39) missense unknown
IGL02832:Col5a1 APN 2 27,842,352 (GRCm39) missense unknown
IGL03065:Col5a1 APN 2 27,922,757 (GRCm39) missense possibly damaging 0.61
IGL03196:Col5a1 APN 2 27,865,610 (GRCm39) missense unknown
PIT4131001:Col5a1 UTSW 2 27,914,665 (GRCm39) missense probably benign 0.01
PIT4495001:Col5a1 UTSW 2 27,914,788 (GRCm39) missense unknown
R0136:Col5a1 UTSW 2 27,914,843 (GRCm39) missense probably damaging 1.00
R0485:Col5a1 UTSW 2 27,880,109 (GRCm39) splice site probably benign
R0626:Col5a1 UTSW 2 27,818,255 (GRCm39) nonsense probably null
R0666:Col5a1 UTSW 2 27,922,697 (GRCm39) missense probably damaging 1.00
R1268:Col5a1 UTSW 2 27,892,501 (GRCm39) missense unknown
R1302:Col5a1 UTSW 2 27,895,248 (GRCm39) missense probably damaging 1.00
R1416:Col5a1 UTSW 2 27,812,076 (GRCm39) missense unknown
R1466:Col5a1 UTSW 2 27,893,858 (GRCm39) splice site probably benign
R1617:Col5a1 UTSW 2 27,842,393 (GRCm39) missense unknown
R1650:Col5a1 UTSW 2 27,812,171 (GRCm39) missense unknown
R1663:Col5a1 UTSW 2 27,841,488 (GRCm39) missense unknown
R1901:Col5a1 UTSW 2 27,850,456 (GRCm39) missense unknown
R1970:Col5a1 UTSW 2 27,876,766 (GRCm39) missense unknown
R2377:Col5a1 UTSW 2 27,818,189 (GRCm39) missense unknown
R2396:Col5a1 UTSW 2 27,876,741 (GRCm39) missense unknown
R4385:Col5a1 UTSW 2 27,914,791 (GRCm39) missense probably damaging 1.00
R4803:Col5a1 UTSW 2 27,901,353 (GRCm39) missense unknown
R4835:Col5a1 UTSW 2 27,915,656 (GRCm39) missense probably damaging 1.00
R4935:Col5a1 UTSW 2 27,914,754 (GRCm39) missense probably damaging 1.00
R4994:Col5a1 UTSW 2 27,922,751 (GRCm39) missense possibly damaging 0.90
R4997:Col5a1 UTSW 2 27,922,794 (GRCm39) nonsense probably null
R5061:Col5a1 UTSW 2 27,842,390 (GRCm39) missense unknown
R5088:Col5a1 UTSW 2 27,908,614 (GRCm39) nonsense probably null
R5089:Col5a1 UTSW 2 27,908,614 (GRCm39) nonsense probably null
R5090:Col5a1 UTSW 2 27,908,614 (GRCm39) nonsense probably null
R5114:Col5a1 UTSW 2 27,915,664 (GRCm39) missense probably damaging 1.00
R5409:Col5a1 UTSW 2 27,850,457 (GRCm39) missense unknown
R5649:Col5a1 UTSW 2 27,841,468 (GRCm39) missense unknown
R5699:Col5a1 UTSW 2 27,887,611 (GRCm39) missense unknown
R5910:Col5a1 UTSW 2 27,926,900 (GRCm39) missense possibly damaging 0.89
R6053:Col5a1 UTSW 2 27,904,389 (GRCm39) unclassified probably benign
R6210:Col5a1 UTSW 2 27,922,633 (GRCm39) missense probably benign 0.04
R6363:Col5a1 UTSW 2 27,818,207 (GRCm39) missense unknown
R6478:Col5a1 UTSW 2 27,842,448 (GRCm39) missense unknown
R6600:Col5a1 UTSW 2 27,887,583 (GRCm39) missense unknown
R7047:Col5a1 UTSW 2 27,818,096 (GRCm39) missense unknown
R7061:Col5a1 UTSW 2 27,915,690 (GRCm39) nonsense probably null
R7131:Col5a1 UTSW 2 27,819,498 (GRCm39) missense unknown
R7202:Col5a1 UTSW 2 27,842,390 (GRCm39) missense unknown
R7270:Col5a1 UTSW 2 27,887,597 (GRCm39) missense unknown
R7385:Col5a1 UTSW 2 27,914,762 (GRCm39) missense unknown
R7492:Col5a1 UTSW 2 27,859,812 (GRCm39) critical splice donor site probably null
R7570:Col5a1 UTSW 2 27,841,395 (GRCm39) missense unknown
R7627:Col5a1 UTSW 2 27,840,665 (GRCm39) nonsense probably null
R8003:Col5a1 UTSW 2 27,848,340 (GRCm39) intron probably benign
R8011:Col5a1 UTSW 2 27,870,533 (GRCm39) splice site probably benign
R8073:Col5a1 UTSW 2 27,852,141 (GRCm39) missense possibly damaging 0.85
R8217:Col5a1 UTSW 2 27,812,135 (GRCm39) missense unknown
R8879:Col5a1 UTSW 2 27,904,170 (GRCm39) missense unknown
R8911:Col5a1 UTSW 2 27,887,630 (GRCm39) critical splice donor site probably null
R9082:Col5a1 UTSW 2 27,852,122 (GRCm39) missense possibly damaging 0.73
R9095:Col5a1 UTSW 2 27,914,665 (GRCm39) missense probably benign 0.01
R9170:Col5a1 UTSW 2 27,841,363 (GRCm39) missense unknown
R9264:Col5a1 UTSW 2 27,854,123 (GRCm39) missense unknown
R9265:Col5a1 UTSW 2 27,854,123 (GRCm39) missense unknown
R9461:Col5a1 UTSW 2 27,922,616 (GRCm39) missense unknown
R9596:Col5a1 UTSW 2 27,819,551 (GRCm39) nonsense probably null
R9614:Col5a1 UTSW 2 27,879,186 (GRCm39) missense unknown
R9691:Col5a1 UTSW 2 27,842,994 (GRCm39) missense unknown
R9743:Col5a1 UTSW 2 27,864,505 (GRCm39) missense unknown
Z1176:Col5a1 UTSW 2 27,892,529 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGTCAGCCTCCACAGGAAG -3'
(R):5'- AGTCAGTGTCCTTTTCCTAGCG -3'

Sequencing Primer
(F):5'- TGTGGCACCACTCAGGAC -3'
(R):5'- GGGTTCCAGTGCCCTAACAATAC -3'
Posted On 2015-06-20