Incidental Mutation 'R6478:Col5a1'
ID 516881
Institutional Source Beutler Lab
Gene Symbol Col5a1
Ensembl Gene ENSMUSG00000026837
Gene Name collagen, type V, alpha 1
Synonyms
MMRRC Submission 044610-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6478 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 27776437-27929526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27842448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 441 (I441N)
Ref Sequence ENSEMBL: ENSMUSP00000028280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028280]
AlphaFold O88207
Predicted Effect unknown
Transcript: ENSMUST00000028280
AA Change: I441N
SMART Domains Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: I441N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (75/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,901,817 (GRCm39) S803C probably benign Het
Abcc9 C T 6: 142,625,034 (GRCm39) A454T probably damaging Het
Abr T C 11: 76,343,158 (GRCm39) E565G probably damaging Het
Adam33 C A 2: 130,893,266 (GRCm39) R753L probably benign Het
Adgre1 A G 17: 57,708,955 (GRCm39) T49A possibly damaging Het
Ankra2 A T 13: 98,404,950 (GRCm39) H153L probably damaging Het
Ankrd26 T G 6: 118,488,599 (GRCm39) E1353D probably benign Het
Ankrd52 T G 10: 128,215,200 (GRCm39) probably null Het
Arhgef10l T A 4: 140,270,068 (GRCm39) T619S possibly damaging Het
Armh4 A G 14: 50,010,789 (GRCm39) V306A possibly damaging Het
Asgr1 T C 11: 69,947,720 (GRCm39) V130A possibly damaging Het
Atg10 C A 13: 91,085,466 (GRCm39) C161F probably damaging Het
Atm A T 9: 53,401,554 (GRCm39) N1438K probably damaging Het
BC107364 T A 3: 96,343,322 (GRCm39) probably null Het
Bcar3 G T 3: 122,220,225 (GRCm39) A41S probably benign Het
Btbd6 A G 12: 112,940,932 (GRCm39) probably benign Het
Cchcr1 A G 17: 35,835,600 (GRCm39) T318A possibly damaging Het
Celsr1 A T 15: 85,809,719 (GRCm39) I2221N probably damaging Het
Cept1 C T 3: 106,440,761 (GRCm39) W48* probably null Het
Cfap161 T A 7: 83,442,484 (GRCm39) I85L probably benign Het
Clasp1 A T 1: 118,439,910 (GRCm39) R640* probably null Het
Col9a1 C A 1: 24,224,486 (GRCm39) L223I unknown Het
Dnah2 T C 11: 69,406,836 (GRCm39) D223G probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpy19l1 A T 9: 24,361,992 (GRCm39) M129K possibly damaging Het
Ecpas A T 4: 58,810,785 (GRCm39) I1524N probably damaging Het
Fcgbpl1 C G 7: 27,854,798 (GRCm39) P1808R probably damaging Het
Fcrl1 C A 3: 87,296,946 (GRCm39) H318Q probably benign Het
Fer1l5 A G 1: 36,441,612 (GRCm39) N609S probably damaging Het
Fkbp4 C T 6: 128,410,194 (GRCm39) E256K probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Glrx G A 13: 75,995,418 (GRCm39) probably null Het
Gm7356 A T 17: 14,221,726 (GRCm39) M101K probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Hectd3 A C 4: 116,856,783 (GRCm39) K443N probably damaging Het
Hmcn1 T A 1: 150,540,535 (GRCm39) R2925W probably damaging Het
Hspa1a G T 17: 35,189,282 (GRCm39) N540K probably damaging Het
Ints6 A T 14: 62,938,235 (GRCm39) M649K probably benign Het
Katnb1 T C 8: 95,822,084 (GRCm39) V270A possibly damaging Het
Kctd3 A G 1: 188,704,561 (GRCm39) S737P probably benign Het
Klra10 T C 6: 130,249,507 (GRCm39) probably null Het
Lmtk3 A G 7: 45,448,013 (GRCm39) D1353G unknown Het
Lrrk1 A G 7: 65,912,481 (GRCm39) V1693A probably damaging Het
Mpnd A T 17: 56,316,575 (GRCm39) I85F probably damaging Het
Myo3b A G 2: 70,179,304 (GRCm39) T1173A probably benign Het
Myof G A 19: 37,892,279 (GRCm39) P1158L probably damaging Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Ncor2 A G 5: 125,187,069 (GRCm39) probably benign Het
Npepps C T 11: 97,149,099 (GRCm39) probably null Het
Opn5 T A 17: 42,891,640 (GRCm39) I266F probably benign Het
Or4a74 T G 2: 89,439,790 (GRCm39) I219L probably damaging Het
P2rx4 A G 5: 122,845,763 (GRCm39) D16G probably damaging Het
Padi2 G T 4: 140,644,948 (GRCm39) V61L probably benign Het
Pkd1l1 G A 11: 8,813,911 (GRCm39) T1480I probably benign Het
Plcb1 T C 2: 135,177,371 (GRCm39) S568P probably damaging Het
Rassf10 A G 7: 112,554,914 (GRCm39) E505G probably damaging Het
Rcan2 A G 17: 44,147,225 (GRCm39) E21G probably benign Het
Rhob G T 12: 8,549,585 (GRCm39) C16* probably null Het
Ryr3 T C 2: 112,490,413 (GRCm39) N3807S probably damaging Het
Sass6 T A 3: 116,415,046 (GRCm39) N519K probably benign Het
Slco1a8 A T 6: 141,939,368 (GRCm39) N208K possibly damaging Het
Smad9 A T 3: 54,689,864 (GRCm39) D28V probably damaging Het
Spmip8 A T 8: 96,047,894 (GRCm39) probably null Het
Tex14 G T 11: 87,405,199 (GRCm39) G704C probably benign Het
Tmc3 A G 7: 83,271,524 (GRCm39) N892S probably benign Het
Tnfaip2 T A 12: 111,412,097 (GRCm39) L166Q probably damaging Het
Triml2 A G 8: 43,638,165 (GRCm39) probably null Het
Trio A G 15: 27,856,193 (GRCm39) V666A probably benign Het
Tshz2 G T 2: 169,726,584 (GRCm39) L393F probably damaging Het
Ttn T G 2: 76,672,115 (GRCm39) probably benign Het
Tubb5 A G 17: 36,146,734 (GRCm39) Y159H probably damaging Het
Umodl1 A G 17: 31,178,129 (GRCm39) Y35C probably damaging Het
Utp4 T C 8: 107,631,078 (GRCm39) probably null Het
Vmn1r60 A T 7: 5,547,864 (GRCm39) C79S probably damaging Het
Wnt5b T C 6: 119,410,751 (GRCm39) T230A probably damaging Het
Zfp618 A T 4: 63,050,943 (GRCm39) I575F probably damaging Het
Zmym6 G T 4: 127,017,176 (GRCm39) V894L possibly damaging Het
Zpbp T C 11: 11,412,318 (GRCm39) 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
R4297:Col5a1 UTSW 2 27,907,216 (GRCm39) critical splice donor site probably null
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
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'- TCCCTTAATCTGCAGCCAGC -3'
(R):5'- CCATAACAGGAATCAGAGAGGCTAC -3'

Sequencing Primer
(F):5'- TTAATCTGCAGCCAGCTCCAGG -3'
(R):5'- CTACATAGAGAGTTTCTGGACAGCC -3'
Posted On 2018-05-21