Incidental Mutation 'R7385:Col5a1'
ID 573005
Institutional Source Beutler Lab
Gene Symbol Col5a1
Ensembl Gene ENSMUSG00000026837
Gene Name collagen, type V, alpha 1
Synonyms
MMRRC Submission 045467-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7385 (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 C at 27914762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1615 (L1615P)
Ref Sequence ENSEMBL: ENSMUSP00000028280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028280] [ENSMUST00000145423]
AlphaFold O88207
Predicted Effect unknown
Transcript: ENSMUST00000028280
AA Change: L1615P
SMART Domains Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: L1615P

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 damaging
Transcript: ENSMUST00000145423
AA Change: L126P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123532
Gene: ENSMUSG00000026837
AA Change: L126P

DomainStartEndE-ValueType
Pfam:Collagen 1 50 2.7e-10 PFAM
COLFI 119 348 3.33e-153 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,580,946 (GRCm39) E1752G possibly damaging Het
Aqp3 T C 4: 41,095,178 (GRCm39) T68A probably damaging Het
Arhgap40 A G 2: 158,385,147 (GRCm39) K463R probably damaging Het
Asb10 A T 5: 24,738,736 (GRCm39) C440* probably null Het
Bach1 A G 16: 87,526,385 (GRCm39) T616A probably damaging Het
Braf T A 6: 39,642,042 (GRCm39) probably null Het
Cacna1s A T 1: 136,020,371 (GRCm39) N803Y probably damaging Het
Cald1 A G 6: 34,663,000 (GRCm39) E21G probably damaging Het
Caskin1 G T 17: 24,722,898 (GRCm39) G589C probably damaging Het
Cdc37l1 T C 19: 28,968,071 (GRCm39) probably null Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Cpt1a C A 19: 3,430,155 (GRCm39) P672T probably damaging Het
Defb22 A G 2: 152,328,117 (GRCm39) Y23H probably damaging Het
Depdc1b G C 13: 108,500,166 (GRCm39) K226N probably damaging Het
Derl2 A G 11: 70,909,764 (GRCm39) probably benign Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dsg3 C A 18: 20,673,254 (GRCm39) T975K possibly damaging Het
Eif4enif1 T A 11: 3,170,269 (GRCm39) D107E probably damaging Het
Fut11 A G 14: 20,746,325 (GRCm39) D389G probably damaging Het
Gopc C T 10: 52,225,328 (GRCm39) G299E probably damaging Het
Gprin1 T C 13: 54,886,423 (GRCm39) D617G probably benign Het
Grin2d A G 7: 45,506,960 (GRCm39) V505A probably damaging Het
Heatr6 T C 11: 83,650,161 (GRCm39) Y206H probably damaging Het
Hhex C A 19: 37,425,713 (GRCm39) N147K probably damaging Het
Igkv4-80 G A 6: 68,993,699 (GRCm39) S64F probably damaging Het
Jakmip3 A G 7: 138,625,068 (GRCm39) K360R possibly damaging Het
Kat5 AG A 19: 5,658,297 (GRCm39) probably null Het
Kat5 T A 19: 5,658,302 (GRCm39) N191I probably benign Het
Kifc5b A G 17: 27,144,597 (GRCm39) D572G probably damaging Het
Lrp5 C A 19: 3,662,197 (GRCm39) probably null Het
Lrtm1 A G 14: 28,749,673 (GRCm39) M345V probably benign Het
Mbd5 T C 2: 49,162,461 (GRCm39) V981A probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mrgprd A G 7: 144,875,261 (GRCm39) N44S probably damaging Het
Mrps10 C A 17: 47,689,146 (GRCm39) P181Q probably damaging Het
Myot T A 18: 44,470,075 (GRCm39) C17* probably null Het
Myt1 A G 2: 181,409,498 (GRCm39) probably null Het
Ncoa6 C A 2: 155,249,721 (GRCm39) L1194F probably damaging Het
Or4d11 T C 19: 12,013,363 (GRCm39) T248A probably benign Het
Or4d6 T C 19: 12,086,061 (GRCm39) N57S probably damaging Het
Or4e5 T C 14: 52,727,638 (GRCm39) Y261C probably damaging Het
Or7a39 C A 10: 78,715,288 (GRCm39) T94K probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Osbpl6 G A 2: 76,379,794 (GRCm39) G128E probably damaging Het
P3h3 A T 6: 124,832,233 (GRCm39) Y218N probably damaging Het
Paxip1 A G 5: 27,986,418 (GRCm39) probably null Het
Pdia5 T C 16: 35,250,284 (GRCm39) Y225C probably damaging Het
Pik3c2g T G 6: 139,801,079 (GRCm39) M526R Het
Prox1 A G 1: 189,894,323 (GRCm39) F41L probably benign Het
Psd3 A T 8: 68,453,408 (GRCm39) F284I probably damaging Het
Rev3l T A 10: 39,699,678 (GRCm39) C1392S probably benign Het
Rfxank A T 8: 70,587,285 (GRCm39) V212E probably damaging Het
Ros1 T C 10: 52,031,222 (GRCm39) D482G probably benign Het
Sat2 A T 11: 69,513,763 (GRCm39) I94F probably damaging Het
Scarf2 T C 16: 17,621,702 (GRCm39) L384P probably damaging Het
Sec14l2 C A 11: 4,066,750 (GRCm39) E21* probably null Het
Slitrk5 T A 14: 111,918,131 (GRCm39) V585E probably benign Het
Spata31h1 T A 10: 82,123,571 (GRCm39) E3146D probably benign Het
Spata31h1 T C 10: 82,123,729 (GRCm39) S3094G probably benign Het
Tas2r130 T A 6: 131,607,226 (GRCm39) M190L probably benign Het
Ticrr G A 7: 79,341,597 (GRCm39) S1061N possibly damaging Het
Tlr9 C A 9: 106,102,463 (GRCm39) H585N probably damaging Het
Tmem219 A T 7: 126,495,947 (GRCm39) I142N probably damaging Het
Tnni2 A G 7: 141,996,915 (GRCm39) N8S probably benign Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc8 A G 12: 98,908,547 (GRCm39) E72G possibly damaging Het
Upf1 A G 8: 70,793,268 (GRCm39) Y297H probably damaging Het
Vmn1r4 A G 6: 56,933,721 (GRCm39) K75R probably damaging Het
Vmn2r78 G A 7: 86,571,633 (GRCm39) G481D probably benign Het
Vmn2r96 A G 17: 18,803,302 (GRCm39) Y404C probably damaging Het
Vps50 T A 6: 3,602,708 (GRCm39) S942T probably benign Het
Xkr7 C A 2: 152,895,983 (GRCm39) S279* probably null Het
Zan G A 5: 137,432,416 (GRCm39) Q2294* probably null Het
Zan T C 5: 137,448,753 (GRCm39) Y1700C unknown 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
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
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'- GGGTCATCTTAACTCTGCCC -3'
(R):5'- CAAATCTCCTCCCACAGATGTG -3'

Sequencing Primer
(F):5'- GGCAGGGCAATTCTCATCCTC -3'
(R):5'- GAGTGAGTGAGGGGGTGACTC -3'
Posted On 2019-09-13