Incidental Mutation 'R4400:Bves'
ID 326596
Institutional Source Beutler Lab
Gene Symbol Bves
Ensembl Gene ENSMUSG00000071317
Gene Name blood vessel epicardial substance
Synonyms Popdc1, popeye 1
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4400 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 45211868-45248575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45245389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 354 (V354A)
Ref Sequence ENSEMBL: ENSMUSP00000093382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095715]
AlphaFold Q9ES83
Predicted Effect probably benign
Transcript: ENSMUST00000095715
AA Change: V354A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: V354A

DomainStartEndE-ValueType
Pfam:Popeye 40 267 3e-90 PFAM
low complexity region 313 323 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,438,810 (GRCm39) F189L probably damaging Het
Atp8a1 A T 5: 67,922,221 (GRCm39) Y372N probably benign Het
Cd79b A T 11: 106,202,836 (GRCm39) Y195* probably null Het
Cog6 A C 3: 52,920,362 (GRCm39) D131E probably benign Het
Elp3 C T 14: 65,785,539 (GRCm39) E421K possibly damaging Het
Fbxw28 A T 9: 109,157,378 (GRCm39) F237Y probably damaging Het
Fezf1 T C 6: 23,247,709 (GRCm39) N122S probably benign Het
Galnt2 A G 8: 125,051,042 (GRCm39) K157E probably damaging Het
Git2 T C 5: 114,871,970 (GRCm39) E141G possibly damaging Het
Gm26888 T C 11: 119,044,853 (GRCm39) silent Het
Gnrhr T C 5: 86,330,108 (GRCm39) probably null Het
Hoxd13 A T 2: 74,500,359 (GRCm39) D300V probably damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Hyal2 A G 9: 107,448,052 (GRCm39) N235S probably damaging Het
Itgam T G 7: 127,680,830 (GRCm39) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Matr3 A T 18: 35,716,969 (GRCm39) K591N possibly damaging Het
Mep1a T A 17: 43,785,897 (GRCm39) I731F possibly damaging Het
Mrtfa G A 15: 80,905,124 (GRCm39) Q103* probably null Het
Muc5b A G 7: 141,415,124 (GRCm39) D2690G possibly damaging Het
Nlrc5 A G 8: 95,220,981 (GRCm39) Q1140R probably benign Het
Or14c39 A G 7: 86,343,798 (GRCm39) I45V probably benign Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or6b6 A G 7: 106,571,209 (GRCm39) L114P probably damaging Het
Plcl1 T C 1: 55,754,736 (GRCm39) F1028L probably damaging Het
Plpp2 A G 10: 79,363,327 (GRCm39) V106A possibly damaging Het
Prpf8 A G 11: 75,381,528 (GRCm39) T255A possibly damaging Het
Shoc2 A G 19: 54,019,660 (GRCm39) I568V probably benign Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Ssrp1 A T 2: 84,868,285 (GRCm39) D9V probably damaging Het
Strn3 A T 12: 51,694,883 (GRCm39) D293E possibly damaging Het
Tbx3 G T 5: 119,818,636 (GRCm39) D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm39) S416P possibly damaging Het
Trim60 G T 8: 65,453,864 (GRCm39) Y128* probably null Het
Tspoap1 T C 11: 87,666,429 (GRCm39) S947P probably damaging Het
Ttn A T 2: 76,612,739 (GRCm39) S17113R probably damaging Het
Ubqln1 T A 13: 58,341,202 (GRCm39) N183I probably damaging Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Ucp2 A G 7: 100,148,557 (GRCm39) *310W probably null Het
Wdr76 A G 2: 121,359,314 (GRCm39) M218V probably damaging Het
Zranb3 A C 1: 127,884,392 (GRCm39) L998R possibly damaging Het
Zxdc G A 6: 90,346,792 (GRCm39) G51E probably damaging Het
Other mutations in Bves
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Bves APN 10 45,229,944 (GRCm39) missense probably damaging 1.00
IGL01155:Bves APN 10 45,229,955 (GRCm39) missense probably damaging 1.00
IGL01482:Bves APN 10 45,230,902 (GRCm39) missense possibly damaging 0.68
R1402:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1402:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1564:Bves UTSW 10 45,245,377 (GRCm39) missense probably benign 0.03
R1711:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1742:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R2057:Bves UTSW 10 45,219,231 (GRCm39) missense probably damaging 1.00
R3113:Bves UTSW 10 45,219,148 (GRCm39) missense probably benign 0.01
R3546:Bves UTSW 10 45,230,907 (GRCm39) missense probably damaging 1.00
R4612:Bves UTSW 10 45,215,373 (GRCm39) missense probably benign 0.01
R4687:Bves UTSW 10 45,230,936 (GRCm39) splice site probably null
R6994:Bves UTSW 10 45,215,514 (GRCm39) missense probably benign
R7052:Bves UTSW 10 45,222,386 (GRCm39) missense possibly damaging 0.69
R7179:Bves UTSW 10 45,230,913 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCACTTGATTGAGACTTCGAGG -3'
(R):5'- AGTCAGAAGGCTTGGCTAAC -3'

Sequencing Primer
(F):5'- AGGGTGCTGAGTTTCCAGAAG -3'
(R):5'- CTTGGCTAACACAAGGAGCTG -3'
Posted On 2015-07-07