Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Vmn2r53'

151656

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r53

Ensembl Gene

ENSMUSG00000096002

Gene Name

vomeronasal 2, receptor 53

Synonyms

EG637908

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12581470-12606544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12581606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 762 (Y762C)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170412]

AlphaFold

A0A3B2W4A7

Predicted Effect

probably benign
Transcript: ENSMUST00000170412
AA Change: Y762C

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: Y762C

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Vmn2r53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Vmn2r53	APN	7	12600908	missense	possibly damaging	0.70
IGL01997:Vmn2r53	APN	7	12582446	missense	possibly damaging	0.54
IGL02442:Vmn2r53	APN	7	12581729	missense	probably damaging	1.00
IGL02449:Vmn2r53	APN	7	12582361	missense	probably damaging	1.00
IGL02589:Vmn2r53	APN	7	12581945	missense	possibly damaging	0.93
IGL02986:Vmn2r53	APN	7	12581466	unclassified	probably benign
IGL03064:Vmn2r53	APN	7	12601010	missense	possibly damaging	0.89
IGL03093:Vmn2r53	APN	7	12600864	missense	probably benign	0.03
IGL03244:Vmn2r53	APN	7	12606508	missense	probably damaging	1.00
IGL03252:Vmn2r53	APN	7	12606391	missense	probably damaging	1.00
IGL03264:Vmn2r53	APN	7	12581892	missense	possibly damaging	0.95
IGL03293:Vmn2r53	APN	7	12598422	missense	probably benign	0.34
R0109:Vmn2r53	UTSW	7	12582066	missense	probably damaging	1.00
R0453:Vmn2r53	UTSW	7	12582411	missense	probably damaging	1.00
R0735:Vmn2r53	UTSW	7	12581780	missense	probably benign
R0881:Vmn2r53	UTSW	7	12600932	missense	probably benign	0.01
R0894:Vmn2r53	UTSW	7	12601214	missense	probably benign	0.00
R0973:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0973:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0974:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0990:Vmn2r53	UTSW	7	12581502	missense	probably benign
R1102:Vmn2r53	UTSW	7	12598483	missense	possibly damaging	0.94
R1141:Vmn2r53	UTSW	7	12600746	missense	possibly damaging	0.54
R1343:Vmn2r53	UTSW	7	12584774	missense	probably benign	0.08
R1750:Vmn2r53	UTSW	7	12581705	missense	probably damaging	1.00
R1836:Vmn2r53	UTSW	7	12600885	missense	probably damaging	1.00
R2035:Vmn2r53	UTSW	7	12598511	missense	possibly damaging	0.76
R2202:Vmn2r53	UTSW	7	12601439	missense	probably damaging	1.00
R3707:Vmn2r53	UTSW	7	12582054	missense	possibly damaging	0.95
R4372:Vmn2r53	UTSW	7	12581729	missense	probably damaging	0.98
R4615:Vmn2r53	UTSW	7	12582302	missense	probably damaging	1.00
R4655:Vmn2r53	UTSW	7	12582005	missense	possibly damaging	0.83
R4663:Vmn2r53	UTSW	7	12600974	missense	probably benign	0.21
R4708:Vmn2r53	UTSW	7	12601202	missense	probably benign
R4710:Vmn2r53	UTSW	7	12601202	missense	probably benign
R4774:Vmn2r53	UTSW	7	12600765	nonsense	probably null
R4859:Vmn2r53	UTSW	7	12601403	missense	probably damaging	1.00
R5061:Vmn2r53	UTSW	7	12581814	missense	probably benign	0.01
R5561:Vmn2r53	UTSW	7	12601420	missense	probably damaging	1.00
R5729:Vmn2r53	UTSW	7	12600806	missense	probably damaging	1.00
R6004:Vmn2r53	UTSW	7	12582401	missense	probably benign	0.12
R6083:Vmn2r53	UTSW	7	12581881	missense	probably benign
R6312:Vmn2r53	UTSW	7	12598639	critical splice acceptor site	probably null
R6700:Vmn2r53	UTSW	7	12581706	missense	probably damaging	0.96
R6783:Vmn2r53	UTSW	7	12601433	missense	probably damaging	1.00
R6852:Vmn2r53	UTSW	7	12606514	missense	probably damaging	0.99
R6889:Vmn2r53	UTSW	7	12601142	missense	probably benign	0.10
R6940:Vmn2r53	UTSW	7	12582416	missense	probably benign	0.19
R7100:Vmn2r53	UTSW	7	12581586	nonsense	probably null
R7174:Vmn2r53	UTSW	7	12581701	missense	probably benign	0.01
R7213:Vmn2r53	UTSW	7	12601056	missense	probably benign	0.17
R7276:Vmn2r53	UTSW	7	12606432	missense	probably damaging	0.99
R7515:Vmn2r53	UTSW	7	12581919	missense	probably benign	0.05
R7678:Vmn2r53	UTSW	7	12598498	missense	probably benign	0.04
R7714:Vmn2r53	UTSW	7	12606491	missense	probably damaging	1.00
R7843:Vmn2r53	UTSW	7	12582099	missense	probably damaging	1.00
R8208:Vmn2r53	UTSW	7	12601395	missense	probably damaging	1.00
R8211:Vmn2r53	UTSW	7	12581916	missense	probably benign	0.01
R8478:Vmn2r53	UTSW	7	12606354	missense	probably benign	0.01
R8853:Vmn2r53	UTSW	7	12581810	missense	probably damaging	1.00
R8924:Vmn2r53	UTSW	7	12600825	missense	probably benign	0.17
R8963:Vmn2r53	UTSW	7	12581999	missense	probably damaging	1.00
R9042:Vmn2r53	UTSW	7	12581508	missense	probably benign
R9076:Vmn2r53	UTSW	7	12606304	missense	probably damaging	1.00
R9407:Vmn2r53	UTSW	7	12601197	missense	probably damaging	0.99
R9690:Vmn2r53	UTSW	7	12581985	missense	probably damaging	1.00
Z1176:Vmn2r53	UTSW	7	12601304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGTCAATTTCCCACATGCTCAG -3'
(R):5'- GAGACCAAGTTCCTCACCTTCAGC -3'

Sequencing Primer
(F):5'- gcaagcatttttacccattcag -3'
(R):5'- AGATCTTTTCCATCCTGGCC -3'

Posted On

2014-01-29