Incidental Mutation 'IGL02418:Vmn2r44'
ID292513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn2r44
Ensembl Gene ENSMUSG00000094098
Gene Namevomeronasal 2, receptor 44
SynonymsEG434113
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02418
Quality Score
Status
Chromosome7
Chromosomal Location8366502-8383354 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8377865 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 343 (L343H)
Ref Sequence ENSEMBL: ENSMUSP00000132467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166499]
Predicted Effect probably damaging
Transcript: ENSMUST00000166499
AA Change: L343H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132467
Gene: ENSMUSG00000094098
AA Change: L343H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 73 469 2.5e-34 PFAM
Pfam:NCD3G 512 565 3.8e-20 PFAM
Pfam:7tm_3 598 833 5.7e-55 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Bbs5 T G 2: 69,655,505 *89G probably null Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Cfi A G 3: 129,848,812 H105R probably benign Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 probably benign Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 M122K unknown Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Mettl11b A T 1: 163,703,156 V238E probably damaging Het
Naa16 C A 14: 79,383,366 R57L probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcp11l2 T A 10: 84,613,606 Y478* probably null Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably damaging Het
Other mutations in Vmn2r44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Vmn2r44 APN 7 8380104 critical splice donor site probably null
IGL01723:Vmn2r44 APN 7 8377916 missense probably damaging 0.97
IGL01767:Vmn2r44 APN 7 8380238 missense probably benign 0.00
IGL02161:Vmn2r44 APN 7 8377815 missense possibly damaging 0.94
IGL02299:Vmn2r44 APN 7 8377816 missense probably benign
IGL02829:Vmn2r44 APN 7 8377880 missense possibly damaging 0.94
IGL02851:Vmn2r44 APN 7 8383051 missense probably damaging 1.00
IGL03080:Vmn2r44 APN 7 8383245 utr 5 prime probably benign
R1471:Vmn2r44 UTSW 7 8377883 missense probably damaging 0.99
R1789:Vmn2r44 UTSW 7 8380123 missense possibly damaging 0.64
R1932:Vmn2r44 UTSW 7 8367982 missense probably benign 0.04
R2354:Vmn2r44 UTSW 7 8370640 missense probably damaging 0.99
R4009:Vmn2r44 UTSW 7 8377988 missense possibly damaging 0.82
R4130:Vmn2r44 UTSW 7 8367919 missense probably damaging 1.00
R4790:Vmn2r44 UTSW 7 8367950 missense probably damaging 1.00
R4854:Vmn2r44 UTSW 7 8380301 missense possibly damaging 0.94
R4887:Vmn2r44 UTSW 7 8377986 missense probably benign 0.19
R4888:Vmn2r44 UTSW 7 8377986 missense probably benign 0.19
R5484:Vmn2r44 UTSW 7 8380124 missense possibly damaging 0.69
R6110:Vmn2r44 UTSW 7 8378006 missense probably damaging 1.00
R6357:Vmn2r44 UTSW 7 8370658 missense probably benign 0.01
R6526:Vmn2r44 UTSW 7 8378099 missense probably benign 0.01
R7083:Vmn2r44 UTSW 7 8378370 missense probably benign 0.44
R7087:Vmn2r44 UTSW 7 8378367 missense probably benign 0.02
R7115:Vmn2r44 UTSW 7 8367528 nonsense probably null
R7125:Vmn2r44 UTSW 7 8367942 missense probably damaging 1.00
R7258:Vmn2r44 UTSW 7 8377849 missense probably damaging 1.00
R7359:Vmn2r44 UTSW 7 8367539 missense probably benign 0.30
R7494:Vmn2r44 UTSW 7 8383123 nonsense probably null
R7766:Vmn2r44 UTSW 7 8368220 missense probably damaging 1.00
R7777:Vmn2r44 UTSW 7 8378315 missense possibly damaging 0.81
Posted On2015-04-16