Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Vmn2r53'

452655

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r53

Ensembl Gene

ENSMUSG00000096002

Gene Name

vomeronasal 2, receptor 53

Synonyms

EG637908

MMRRC Submission

043346-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12581470-12606544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12600806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 309 (E309G)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

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

AlphaFold

A0A3B2W4A7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118665

Predicted Effect

probably damaging
Transcript: ENSMUST00000170412
AA Change: E309G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: E309G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss	A	T	1: 177,796,258	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,565,905	V205A	probably benign	Het
Atp1a2	A	G	1: 172,293,371	S45P	probably damaging	Het
Atp4a	A	G	7: 30,712,426	K29E	possibly damaging	Het
AU040320	T	A	4: 126,830,415	D428E	probably damaging	Het
Bend7	T	C	2: 4,763,274	L347P	probably damaging	Het
Cacna2d1	T	A	5: 15,935,039	L9*	probably null	Het
Ccdc103	A	T	11: 102,883,078	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,426,569	I88V	probably benign	Het
Cracr2a	T	C	6: 127,607,236	V86A	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dgkd	C	T	1: 87,936,332	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,596	D446E	probably benign	Het
Fam13a	T	G	6: 58,939,307	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,967,623	V226A	probably damaging	Het
Gm5499	A	T	17: 87,078,516		noncoding transcript	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 19,005,247	E271*	probably null	Het
Krt86	T	G	15: 101,476,548	V274G	probably benign	Het
Lats2	A	T	14: 57,722,735	C151S	probably benign	Het
Mapk3	A	T	7: 126,764,807	T254S	probably benign	Het
Mat2b	A	T	11: 40,682,546	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971	Y282H	probably benign	Het
Myo3b	A	G	2: 70,105,739	K108R	probably damaging	Het
Naa16	A	G	14: 79,355,780	Y417H	probably damaging	Het
Oat	A	T	7: 132,558,255	I412N	probably damaging	Het
Olfr1423	A	T	19: 12,035,908	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,202,946	V73D	probably damaging	Het
Pigv	A	T	4: 133,664,823	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,337,438	F34L	probably benign	Het
Plxnd1	A	G	6: 115,965,877	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,763	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,118,029	E119K	probably damaging	Het
Psg29	A	T	7: 17,210,534	N323I	probably damaging	Het
Rasa4	T	C	5: 136,093,162	V108A	probably benign	Het
Rbm14	A	G	19: 4,802,549		probably benign	Het
Rfc1	A	T	5: 65,277,452	V657E	probably damaging	Het
Rhcg	A	T	7: 79,600,623	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,160,160	Q1302R	probably benign	Het
Rragc	A	G	4: 123,924,852	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,741,957		probably null	Het
Sema6a	C	T	18: 47,281,343	C506Y	probably damaging	Het
Senp1	G	T	15: 98,066,531	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,858,883	E100G	unknown	Het
Slc38a11	A	T	2: 65,317,021	C371S	probably benign	Het
Snai3	G	A	8: 122,454,890	A276V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Spag6	C	T	2: 18,715,714	T99I	probably benign	Het
Spop	A	G	11: 95,485,849	I243V	possibly damaging	Het
Sra1	A	T	18: 36,667,443		probably benign	Het
Stag3	T	A	5: 138,290,223	S140T	possibly damaging	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,207,872	A868G	probably benign	Het
Tead2	A	G	7: 45,220,742		probably benign	Het
Tmem53	C	A	4: 117,268,472	H261N	probably damaging	Het
Ube4a	A	T	9: 44,933,329	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339	D827E	probably damaging	Het
Wrn	T	C	8: 33,268,778	S1026G	probably benign	Het
Zfp646	G	A	7: 127,885,454	A1760T	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
R1263:Vmn2r53	UTSW	7	12581606	missense	probably benign	0.41
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
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
Z1176:Vmn2r53	UTSW	7	12601304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAAACCATTATGCCTGTTCC -3'
(R):5'- GCCTTCTGTATCACAGCAGC -3'

Sequencing Primer
(F):5'- GTTCCCCAACCATCTCTGAAG -3'
(R):5'- TATCACAGCAGCAGGGCTATTG -3'

Posted On

2017-01-03