Incidental Mutation 'R6312:Vash2'
ID509794
Institutional Source Beutler Lab
Gene Symbol Vash2
Ensembl Gene ENSMUSG00000037568
Gene Namevasohibin 2
SynonymsB130052G07Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R6312 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location190947646-190979296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 190958683 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 309 (R309L)
Ref Sequence ENSEMBL: ENSMUSP00000127626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047409] [ENSMUST00000166139]
Predicted Effect probably benign
Transcript: ENSMUST00000047409
AA Change: R309L

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036768
Gene: ENSMUSG00000037568
AA Change: R309L

DomainStartEndE-ValueType
Pfam:Vasohibin 45 291 7e-124 PFAM
low complexity region 312 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166139
AA Change: R309L

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127626
Gene: ENSMUSG00000037568
AA Change: R309L

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
Pfam:Vasohibin 47 291 1.1e-124 PFAM
low complexity region 312 329 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice have defects in initiating angiogenesis in response to skin wounding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,889,767 S472P possibly damaging Het
9430007A20Rik A T 4: 144,528,502 H164L probably benign Het
Abraxas2 G A 7: 132,874,965 A145T probably damaging Het
AC153874.1 T A 10: 77,847,127 probably benign Het
Acadvl T A 11: 70,011,767 M375L probably damaging Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Arl4d T C 11: 101,667,253 *202R probably null Het
B3gat2 G T 1: 23,815,467 E83* probably null Het
BC017158 T C 7: 128,273,543 K411R probably benign Het
Bmper C A 9: 23,406,791 Q569K possibly damaging Het
C2cd4d C A 3: 94,364,435 P336H probably damaging Het
Cct2 A T 10: 117,056,055 S363T probably benign Het
Cers5 A G 15: 99,747,115 V119A probably benign Het
Cfhr2 C T 1: 139,831,079 V78I possibly damaging Het
Crocc2 A T 1: 93,215,710 K1345* probably null Het
Cyp4f39 T C 17: 32,483,294 M255T probably benign Het
Dpp6 A T 5: 27,725,671 I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 K205* probably null Het
Epg5 T A 18: 77,979,211 D1056E possibly damaging Het
Fam20a A C 11: 109,674,630 C452G probably damaging Het
Gnai2 A T 9: 107,635,117 V34E probably damaging Het
Gng3 A G 19: 8,838,633 V7A probably benign Het
Hdc A G 2: 126,607,406 V77A possibly damaging Het
Hint1 G A 11: 54,869,990 C85Y probably benign Het
Kif17 C T 4: 138,288,193 S551L probably benign Het
Lgr5 A G 10: 115,452,924 L581P probably damaging Het
Lig4 G T 8: 9,971,739 N680K probably benign Het
Lipi T A 16: 75,573,915 Y138F probably damaging Het
Lrp2 C T 2: 69,436,681 G4294E probably damaging Het
Lrrc7 A G 3: 158,160,609 M1165T probably benign Het
Mtpap T C 18: 4,396,175 I489T possibly damaging Het
Nlrp1b T A 11: 71,228,397 N24I probably benign Het
Nlrp4a A G 7: 26,449,396 T143A probably benign Het
Nudt2 A G 4: 41,480,386 T90A probably benign Het
Olfr1055 A T 2: 86,347,581 F62I probably damaging Het
Olfr352 A T 2: 36,870,465 I300L probably benign Het
Olfr659 T A 7: 104,671,589 Y296N probably damaging Het
Olfr883 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 38,026,540 probably null Het
Olfr883 TTGCTGT TTGCTGTCTGCTGT 9: 38,026,541 probably null Het
Olfr883 GTTT GTTTGCTGTTTT 9: 38,026,546 probably null Het
Olfr883 TTT TTTGCTGATT 9: 38,026,547 probably null Het
Olfr883 T TGCTGTTC 9: 38,026,549 probably null Het
Osmr A G 15: 6,823,638 V592A probably damaging Het
Rbp2 G T 9: 98,490,647 S13I probably benign Het
Rsf1 A AGGGCGACGG 7: 97,579,904 probably null Het
Slc6a7 A G 18: 61,002,385 S381P probably benign Het
Slitrk6 A G 14: 110,750,247 L676P probably benign Het
Sspo T C 6: 48,457,366 probably null Het
Tectb CT C 19: 55,192,662 probably null Homo
Tma16 T C 8: 66,481,466 E79G probably damaging Het
Trim14 G T 4: 46,507,257 H320N probably damaging Het
Trim63 A G 4: 134,325,697 D323G probably damaging Het
Vmn1r62 G A 7: 5,676,084 V255M possibly damaging Het
Vmn2r53 T A 7: 12,598,639 probably null Het
Zfp382 G A 7: 30,134,538 R538H probably damaging Het
Zfp592 T A 7: 81,023,436 D49E probably benign Het
Zfp60 T C 7: 27,748,776 C290R probably damaging Het
Zfp69 G A 4: 120,949,517 probably benign Het
Zfp790 G T 7: 29,828,222 G111W probably damaging Het
Zfp948 T C 17: 21,587,167 I207T possibly damaging Het
Other mutations in Vash2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02345:Vash2 APN 1 190978215 missense probably benign 0.15
R0507:Vash2 UTSW 1 190966918 splice site probably benign
R2265:Vash2 UTSW 1 190950213 missense probably damaging 0.97
R3615:Vash2 UTSW 1 190970419 missense probably damaging 1.00
R3616:Vash2 UTSW 1 190970419 missense probably damaging 1.00
R4610:Vash2 UTSW 1 190960301 missense probably benign 0.04
R4844:Vash2 UTSW 1 190978494 utr 5 prime probably benign
R5569:Vash2 UTSW 1 190960291 missense possibly damaging 0.65
R6282:Vash2 UTSW 1 190960225 missense probably benign 0.11
R6468:Vash2 UTSW 1 190978287 missense probably damaging 1.00
X0021:Vash2 UTSW 1 190960444 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACTCAGACCCAAGAGAGTTAC -3'
(R):5'- TCCACAGAAAAGGAGCTGAC -3'

Sequencing Primer
(F):5'- CAGTAGCTCCTAAGTAGCTAAGCTG -3'
(R):5'- TCCCACTCTCCAGGAAGTG -3'
Posted On2018-04-02