Incidental Mutation 'R5088:Col5a1'
ID 387550
Institutional Source Beutler Lab
Gene Symbol Col5a1
Ensembl Gene ENSMUSG00000026837
Gene Name collagen, type V, alpha 1
Synonyms
MMRRC Submission 042677-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5088 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 27776437-27929526 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 27908614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 67 (W67*)
Ref Sequence ENSEMBL: ENSMUSP00000123532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028280] [ENSMUST00000145423]
AlphaFold O88207
Predicted Effect probably benign
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 null
Transcript: ENSMUST00000145423
AA Change: W67*
SMART Domains Protein: ENSMUSP00000123532
Gene: ENSMUSG00000026837
AA Change: W67*

DomainStartEndE-ValueType
Pfam:Collagen 1 50 2.7e-10 PFAM
COLFI 119 348 3.33e-153 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,883,939 (GRCm39) C640S probably damaging Het
4931429L15Rik T C 9: 46,217,038 (GRCm39) R246G probably benign Het
Aak1 T C 6: 86,921,462 (GRCm39) probably null Het
Abcc5 A G 16: 20,195,412 (GRCm39) L695P probably damaging Het
Alcam T A 16: 52,109,290 (GRCm39) T328S probably damaging Het
Alpk1 A G 3: 127,478,969 (GRCm39) probably benign Het
Arel1 A G 12: 84,970,889 (GRCm39) L642P probably damaging Het
Atrip T C 9: 108,888,964 (GRCm39) D741G probably damaging Het
Bmp1 T C 14: 70,723,659 (GRCm39) T726A possibly damaging Het
Bnip3 A G 7: 138,496,337 (GRCm39) probably null Het
Cacng5 C G 11: 107,768,215 (GRCm39) C264S possibly damaging Het
Calr4 T A 4: 109,101,859 (GRCm39) probably benign Het
Cdhr1 T A 14: 36,811,422 (GRCm39) T230S probably benign Het
Cdk16 T C X: 20,562,566 (GRCm39) probably benign Het
Cenpj T C 14: 56,791,148 (GRCm39) E337G probably damaging Het
Chd9 A G 8: 91,704,147 (GRCm39) I694V possibly damaging Het
Chsy3 T A 18: 59,312,607 (GRCm39) V360D probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cyp20a1 A T 1: 60,402,509 (GRCm39) H198L probably damaging Het
Dnai1 T A 4: 41,597,630 (GRCm39) S38T probably benign Het
Dnai1 T G 4: 41,632,251 (GRCm39) S562A probably benign Het
Dpy19l4 G T 4: 11,303,357 (GRCm39) T188K probably damaging Het
Ergic2 A G 6: 148,084,621 (GRCm39) V304A probably damaging Het
Fam83a A G 15: 57,873,196 (GRCm39) T342A probably benign Het
Fbxo7 A G 10: 85,857,784 (GRCm39) probably benign Het
Gins4 T C 8: 23,727,084 (GRCm39) E3G possibly damaging Het
Glis3 G A 19: 28,508,979 (GRCm39) P335L probably benign Het
Golph3l A T 3: 95,524,501 (GRCm39) T251S possibly damaging Het
Hnf4g C T 3: 3,722,181 (GRCm39) A445V probably benign Het
Hykk A G 9: 54,853,763 (GRCm39) I362V probably benign Het
Il6st G A 13: 112,627,089 (GRCm39) V294M probably damaging Het
Itpr1 A G 6: 108,366,348 (GRCm39) I92V probably damaging Het
Kdm4c T C 4: 74,252,936 (GRCm39) L501P probably benign Het
Mpi G A 9: 57,457,887 (GRCm39) T105M probably damaging Het
Mrpl37 A T 4: 106,921,919 (GRCm39) L132H probably damaging Het
Muc5ac A T 7: 141,350,056 (GRCm39) T600S possibly damaging Het
Npl A T 1: 153,384,890 (GRCm39) I249N possibly damaging Het
Or10j27 C T 1: 172,958,606 (GRCm39) M59I probably damaging Het
Or7g30 A G 9: 19,353,067 (GRCm39) N286S probably damaging Het
Pkd1 A G 17: 24,809,812 (GRCm39) K3497E possibly damaging Het
Ptprt T C 2: 162,080,095 (GRCm39) N235D probably benign Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Rcvrn A T 11: 67,586,340 (GRCm39) Q33L probably benign Het
Rif1 A T 2: 51,982,307 (GRCm39) K524I possibly damaging Het
Rnf139 A T 15: 58,771,790 (GRCm39) N605I possibly damaging Het
Ryr2 C A 13: 11,727,129 (GRCm39) G2411* probably null Het
Scn3a A T 2: 65,302,643 (GRCm39) S1268T probably damaging Het
Sema6a T A 18: 47,382,196 (GRCm39) I784F probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Skint7 T C 4: 111,837,627 (GRCm39) I135T possibly damaging Het
Smchd1 A T 17: 71,738,343 (GRCm39) N507K possibly damaging Het
Spata31d1a A C 13: 59,848,966 (GRCm39) probably null Het
Spata7 A T 12: 98,635,761 (GRCm39) D527V probably benign Het
Srcap A G 7: 127,140,833 (GRCm39) T1477A probably benign Het
Srl C A 16: 4,300,633 (GRCm39) D375Y probably damaging Het
Stk4 A T 2: 163,925,608 (GRCm39) K58* probably null Het
Svep1 T G 4: 58,120,648 (GRCm39) H795P possibly damaging Het
Trak2 T A 1: 58,974,967 (GRCm39) Q75L probably benign Het
Ubxn2a T A 12: 4,933,904 (GRCm39) N169I probably damaging Het
Vmn1r216 T A 13: 23,283,473 (GRCm39) L52* probably null Het
Vmn2r108 A T 17: 20,690,454 (GRCm39) N459K possibly damaging Het
Vstm5 A G 9: 15,168,601 (GRCm39) D55G possibly damaging Het
Wdr24 T A 17: 26,047,181 (GRCm39) probably null Het
Zfp13 C A 17: 23,796,035 (GRCm39) E179* probably null Het
Zfp839 T C 12: 110,834,610 (GRCm39) S546P probably damaging 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
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'- GACTCAGGGTACTGGTAGCATAG -3'
(R):5'- GGATCTGACTGCTAAGACCC -3'

Sequencing Primer
(F):5'- GGTAGCATAGATACCTATCATGGCTC -3'
(R):5'- CCCCCACAAATTCTGAGGATC -3'
Posted On 2016-06-06