Incidental Mutation 'R4655:Vmn2r53'
ID 352355
Institutional Source Beutler Lab
Gene Symbol Vmn2r53
Ensembl Gene ENSMUSG00000096002
Gene Name vomeronasal 2, receptor 53
Synonyms EG637908
MMRRC Submission 041915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R4655 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12315397-12342583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12315932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 629 (T629I)
Ref Sequence ENSEMBL: ENSMUSP00000126979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170412]
AlphaFold A0A3B2W4A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000170412
AA Change: T629I

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: T629I

DomainStartEndE-ValueType
Pfam:ANF_receptor 5 397 3.6e-58 PFAM
Pfam:NCD3G 442 495 2.2e-19 PFAM
Pfam:7tm_3 526 763 3.1e-53 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,314,778 (GRCm39) V300A probably benign Het
Aadacl4fm2 A T 4: 144,281,645 (GRCm39) F382L probably benign Het
Abca4 A G 3: 121,941,147 (GRCm39) N405S possibly damaging Het
Acsl3 A G 1: 78,668,063 (GRCm39) T212A probably damaging Het
Ahnak A G 19: 8,986,065 (GRCm39) K2450E probably damaging Het
Akap9 G A 5: 4,096,403 (GRCm39) R2426H probably benign Het
Akr1c6 T C 13: 4,499,428 (GRCm39) V266A probably damaging Het
Ccs A G 19: 4,889,232 (GRCm39) V11A probably benign Het
Cdc14a T A 3: 116,122,136 (GRCm39) H228L probably damaging Het
Cgn G A 3: 94,686,559 (GRCm39) Q248* probably null Het
Cux2 G A 5: 122,023,997 (GRCm39) T92M possibly damaging Het
Cyb5r4 A G 9: 86,941,482 (GRCm39) K68E probably benign Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dnah9 T C 11: 65,846,558 (GRCm39) N2918S probably benign Het
Dyrk1b T C 7: 27,885,176 (GRCm39) V438A probably damaging Het
Eml1 G A 12: 108,500,972 (GRCm39) D625N probably damaging Het
Eno2 T C 6: 124,740,889 (GRCm39) probably null Het
Ephb3 G A 16: 21,040,958 (GRCm39) G672D probably damaging Het
Evx1 A T 6: 52,291,182 (GRCm39) D118V probably damaging Het
Fbxl13 A G 5: 21,787,037 (GRCm39) L300S probably damaging Het
Fbxo30 T C 10: 11,166,837 (GRCm39) F520L probably damaging Het
Flt3 G A 5: 147,286,403 (GRCm39) P728S possibly damaging Het
Gas2l2 T C 11: 83,314,001 (GRCm39) E437G possibly damaging Het
Gldc A T 19: 30,138,102 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,232 (GRCm39) probably benign Het
Gm7358 A T 17: 14,279,410 (GRCm39) noncoding transcript Het
Grifin A G 5: 140,550,300 (GRCm39) V47A possibly damaging Het
H3c7 T C 13: 23,728,923 (GRCm39) V90A probably benign Het
Hddc2 G T 10: 31,204,016 (GRCm39) probably benign Het
Hkdc1 T A 10: 62,236,242 (GRCm39) R433S probably benign Het
Htt A G 5: 35,063,476 (GRCm39) D2918G probably benign Het
Itga2 A C 13: 115,009,805 (GRCm39) D383E probably benign Het
Itpr1 G A 6: 108,458,254 (GRCm39) C2007Y probably damaging Het
Krt42 C A 11: 100,160,671 (GRCm39) Q9H probably damaging Het
Lyrm7 T C 11: 54,739,434 (GRCm39) Q72R probably damaging Het
Mmp9 A G 2: 164,793,122 (GRCm39) S424G probably benign Het
Mtr A G 13: 12,242,679 (GRCm39) V457A probably damaging Het
Myo15b T C 11: 115,781,523 (GRCm39) L1359P probably damaging Het
Neb A G 2: 52,117,311 (GRCm39) L4087P probably damaging Het
Npl T C 1: 153,391,152 (GRCm39) D201G probably damaging Het
Or1af1 A G 2: 37,109,885 (GRCm39) N128S probably benign Het
Or8b1c C A 9: 38,384,120 (GRCm39) P26T probably damaging Het
Or8k3 A G 2: 86,059,037 (GRCm39) S93P probably benign Het
Pclo T C 5: 14,732,397 (GRCm39) probably benign Het
Pdp2 A G 8: 105,321,168 (GRCm39) D339G probably benign Het
Pfdn6 A T 17: 34,159,014 (GRCm39) Y16* probably null Het
Pilra C T 5: 137,833,588 (GRCm39) probably null Het
Prrc2a A T 17: 35,374,590 (GRCm39) N1353K probably benign Het
Prss3l T A 6: 41,422,984 (GRCm39) I6F probably benign Het
Ptger4 C A 15: 5,272,545 (GRCm39) A50S probably benign Het
Pus10 T C 11: 23,622,707 (GRCm39) V109A probably benign Het
Pus3 A C 9: 35,476,228 (GRCm39) D39A probably benign Het
Rab44 A G 17: 29,358,168 (GRCm39) N119D probably benign Het
Rasgrp2 T C 19: 6,454,876 (GRCm39) probably benign Het
Rhobtb2 T A 14: 70,033,438 (GRCm39) I511F probably damaging Het
Sfxn1 C A 13: 54,246,457 (GRCm39) A167D probably benign Het
Slc12a6 A G 2: 112,188,111 (GRCm39) probably null Het
Smyd4 C T 11: 75,281,558 (GRCm39) L344F probably damaging Het
Srsf11 A G 3: 157,728,972 (GRCm39) V93A probably benign Het
Tle1 A G 4: 72,063,581 (GRCm39) I224T possibly damaging Het
Tmc6 A T 11: 117,663,868 (GRCm39) S479R possibly damaging Het
Tmprss4 T C 9: 45,087,702 (GRCm39) M296V probably benign Het
Togaram1 A G 12: 65,013,894 (GRCm39) N382D possibly damaging Het
Tpcn1 A G 5: 120,677,322 (GRCm39) S662P probably damaging Het
Tppp G T 13: 74,178,983 (GRCm39) R141S probably benign Het
Ttc21a A G 9: 119,790,828 (GRCm39) D858G possibly damaging Het
Tuba3a A G 6: 125,258,130 (GRCm39) S287P possibly damaging Het
Unc80 T G 1: 66,710,821 (GRCm39) S2697A probably benign Het
Vmn1r69 A G 7: 10,314,026 (GRCm39) V235A probably benign Het
Vmn2r26 T A 6: 124,038,375 (GRCm39) I650N probably damaging Het
Vmn2r74 T C 7: 85,610,555 (GRCm39) T46A probably benign Het
Vmn2r84 A T 10: 130,229,973 (GRCm39) C46* probably null Het
Vps13b T C 15: 35,770,835 (GRCm39) S2093P probably benign Het
Wdfy4 T C 14: 32,711,893 (GRCm39) R2375G probably damaging Het
Wnk2 T G 13: 49,210,359 (GRCm39) E1820A probably damaging Het
Other mutations in Vmn2r53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Vmn2r53 APN 7 12,334,835 (GRCm39) missense possibly damaging 0.70
IGL01997:Vmn2r53 APN 7 12,316,373 (GRCm39) missense possibly damaging 0.54
IGL02442:Vmn2r53 APN 7 12,315,656 (GRCm39) missense probably damaging 1.00
IGL02449:Vmn2r53 APN 7 12,316,288 (GRCm39) missense probably damaging 1.00
IGL02589:Vmn2r53 APN 7 12,315,872 (GRCm39) missense possibly damaging 0.93
IGL02986:Vmn2r53 APN 7 12,315,393 (GRCm39) unclassified probably benign
IGL03064:Vmn2r53 APN 7 12,334,937 (GRCm39) missense possibly damaging 0.89
IGL03093:Vmn2r53 APN 7 12,334,791 (GRCm39) missense probably benign 0.03
IGL03244:Vmn2r53 APN 7 12,340,435 (GRCm39) missense probably damaging 1.00
IGL03252:Vmn2r53 APN 7 12,340,318 (GRCm39) missense probably damaging 1.00
IGL03264:Vmn2r53 APN 7 12,315,819 (GRCm39) missense possibly damaging 0.95
IGL03293:Vmn2r53 APN 7 12,332,349 (GRCm39) missense probably benign 0.34
R0109:Vmn2r53 UTSW 7 12,315,993 (GRCm39) missense probably damaging 1.00
R0453:Vmn2r53 UTSW 7 12,316,338 (GRCm39) missense probably damaging 1.00
R0735:Vmn2r53 UTSW 7 12,315,707 (GRCm39) missense probably benign
R0881:Vmn2r53 UTSW 7 12,334,859 (GRCm39) missense probably benign 0.01
R0894:Vmn2r53 UTSW 7 12,335,141 (GRCm39) missense probably benign 0.00
R0973:Vmn2r53 UTSW 7 12,335,319 (GRCm39) missense probably damaging 1.00
R0973:Vmn2r53 UTSW 7 12,335,319 (GRCm39) missense probably damaging 1.00
R0974:Vmn2r53 UTSW 7 12,335,319 (GRCm39) missense probably damaging 1.00
R0990:Vmn2r53 UTSW 7 12,315,429 (GRCm39) missense probably benign
R1102:Vmn2r53 UTSW 7 12,332,410 (GRCm39) missense possibly damaging 0.94
R1141:Vmn2r53 UTSW 7 12,334,673 (GRCm39) missense possibly damaging 0.54
R1263:Vmn2r53 UTSW 7 12,315,533 (GRCm39) missense probably benign 0.41
R1343:Vmn2r53 UTSW 7 12,318,701 (GRCm39) missense probably benign 0.08
R1750:Vmn2r53 UTSW 7 12,315,632 (GRCm39) missense probably damaging 1.00
R1836:Vmn2r53 UTSW 7 12,334,812 (GRCm39) missense probably damaging 1.00
R2035:Vmn2r53 UTSW 7 12,332,438 (GRCm39) missense possibly damaging 0.76
R2202:Vmn2r53 UTSW 7 12,335,366 (GRCm39) missense probably damaging 1.00
R3707:Vmn2r53 UTSW 7 12,315,981 (GRCm39) missense possibly damaging 0.95
R4372:Vmn2r53 UTSW 7 12,315,656 (GRCm39) missense probably damaging 0.98
R4615:Vmn2r53 UTSW 7 12,316,229 (GRCm39) missense probably damaging 1.00
R4663:Vmn2r53 UTSW 7 12,334,901 (GRCm39) missense probably benign 0.21
R4708:Vmn2r53 UTSW 7 12,335,129 (GRCm39) missense probably benign
R4710:Vmn2r53 UTSW 7 12,335,129 (GRCm39) missense probably benign
R4774:Vmn2r53 UTSW 7 12,334,692 (GRCm39) nonsense probably null
R4859:Vmn2r53 UTSW 7 12,335,330 (GRCm39) missense probably damaging 1.00
R5061:Vmn2r53 UTSW 7 12,315,741 (GRCm39) missense probably benign 0.01
R5561:Vmn2r53 UTSW 7 12,335,347 (GRCm39) missense probably damaging 1.00
R5729:Vmn2r53 UTSW 7 12,334,733 (GRCm39) missense probably damaging 1.00
R6004:Vmn2r53 UTSW 7 12,316,328 (GRCm39) missense probably benign 0.12
R6083:Vmn2r53 UTSW 7 12,315,808 (GRCm39) missense probably benign
R6312:Vmn2r53 UTSW 7 12,332,566 (GRCm39) critical splice acceptor site probably null
R6700:Vmn2r53 UTSW 7 12,315,633 (GRCm39) missense probably damaging 0.96
R6783:Vmn2r53 UTSW 7 12,335,360 (GRCm39) missense probably damaging 1.00
R6852:Vmn2r53 UTSW 7 12,340,441 (GRCm39) missense probably damaging 0.99
R6889:Vmn2r53 UTSW 7 12,335,069 (GRCm39) missense probably benign 0.10
R6940:Vmn2r53 UTSW 7 12,316,343 (GRCm39) missense probably benign 0.19
R7100:Vmn2r53 UTSW 7 12,315,513 (GRCm39) nonsense probably null
R7174:Vmn2r53 UTSW 7 12,315,628 (GRCm39) missense probably benign 0.01
R7213:Vmn2r53 UTSW 7 12,334,983 (GRCm39) missense probably benign 0.17
R7276:Vmn2r53 UTSW 7 12,340,359 (GRCm39) missense probably damaging 0.99
R7515:Vmn2r53 UTSW 7 12,315,846 (GRCm39) missense probably benign 0.05
R7678:Vmn2r53 UTSW 7 12,332,425 (GRCm39) missense probably benign 0.04
R7714:Vmn2r53 UTSW 7 12,340,418 (GRCm39) missense probably damaging 1.00
R7843:Vmn2r53 UTSW 7 12,316,026 (GRCm39) missense probably damaging 1.00
R8208:Vmn2r53 UTSW 7 12,335,322 (GRCm39) missense probably damaging 1.00
R8211:Vmn2r53 UTSW 7 12,315,843 (GRCm39) missense probably benign 0.01
R8478:Vmn2r53 UTSW 7 12,340,281 (GRCm39) missense probably benign 0.01
R8853:Vmn2r53 UTSW 7 12,315,737 (GRCm39) missense probably damaging 1.00
R8924:Vmn2r53 UTSW 7 12,334,752 (GRCm39) missense probably benign 0.17
R8963:Vmn2r53 UTSW 7 12,315,926 (GRCm39) missense probably damaging 1.00
R9042:Vmn2r53 UTSW 7 12,315,435 (GRCm39) missense probably benign
R9076:Vmn2r53 UTSW 7 12,340,231 (GRCm39) missense probably damaging 1.00
R9407:Vmn2r53 UTSW 7 12,335,124 (GRCm39) missense probably damaging 0.99
R9690:Vmn2r53 UTSW 7 12,315,912 (GRCm39) missense probably damaging 1.00
Z1176:Vmn2r53 UTSW 7 12,335,231 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAAGACATCTGGAAGGCCC -3'
(R):5'- CTTGCTCTTCCTTGGGAGAC -3'

Sequencing Primer
(F):5'- AGAGAAGGTACCCCCTGC -3'
(R):5'- GGAGACCCACTGTTACTACCTG -3'
Posted On 2015-10-08