Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Vmn2r51'

513466

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r51

Ensembl Gene

ENSMUSG00000058685

Gene Name

vomeronasal 2, receptor 51

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10087198-10105659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10098216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 481 (K481R)

Ref Sequence

ENSEMBL: ENSMUSP00000092459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094863]

AlphaFold

L7N215

Predicted Effect

probably damaging
Transcript: ENSMUST00000094863
AA Change: K481R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092459
Gene: ENSMUSG00000058685
AA Change: K481R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	2.4e-31	PFAM
Pfam:NCD3G	512	565	8.1e-21	PFAM
Pfam:7tm_3	598	833	2.7e-54	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,827,012	V67A	probably damaging	Het
Atic	T	A	1: 71,578,660	F590I	probably damaging	Het
Atxn10	T	C	15: 85,393,385	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,865,622	N92S	probably benign	Het
Carm1	G	T	9: 21,587,519	A518S	probably benign	Het
Ccar1	C	T	10: 62,764,529	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,822,327	L96Q	probably damaging	Het
Chrnb4	A	G	9: 55,034,859	L377S	probably benign	Het
Clcn3	A	G	8: 60,923,024	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,264,422	M717I	probably benign	Het
Ctcf	T	C	8: 105,664,220	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,763,358	S222P	probably benign	Het
Dixdc1	A	T	9: 50,682,223		probably null	Het
Entpd2	G	A	2: 25,397,417	G47S	probably damaging	Het
Erbb3	A	G	10: 128,570,074	M1158T	possibly damaging	Het
Faah	T	C	4: 116,003,056	D333G	probably damaging	Het
Foxred2	T	A	15: 77,943,306	T618S	probably benign	Het
Gm2381	G	A	7: 42,820,586	A38V	probably benign	Het
Gpx5	A	T	13: 21,288,702		probably null	Het
Gtdc1	A	G	2: 44,756,322	V98A	probably damaging	Het
Hal	T	C	10: 93,497,506	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,403,631	Y41C	unknown	Het
Larp6	A	G	9: 60,737,363	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,569,224	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,357,481	V244A	probably benign	Het
Marc1	T	C	1: 184,795,492	D257G	probably damaging	Het
Mfrp	T	C	9: 44,106,261	C517R	probably damaging	Het
Ncoa3	T	C	2: 166,065,905	S1145P	probably benign	Het
Nosip	G	T	7: 45,076,740		probably null	Het
Olfr1186	T	A	2: 88,499,368	C94*	probably null	Het
Olfr568	A	T	7: 102,877,170	T17S	probably benign	Het
Olfr664	T	C	7: 104,733,917	K149R	probably benign	Het
Phykpl	T	C	11: 51,586,716	S112P	probably damaging	Het
Pik3cb	A	T	9: 99,040,934	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,109,199	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,689,034	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,477,078	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Homo
Rxrg	T	C	1: 167,634,437	V227A	probably damaging	Het
Satb1	A	T	17: 51,782,797	S341T	possibly damaging	Het
Skint5	T	G	4: 113,614,110	Q983P	unknown	Het
Slc6a18	G	A	13: 73,668,159	T367I	probably benign	Het
Slc7a1	A	G	5: 148,340,673	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,195,437	F399I	probably benign	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,610,334	V208A	probably benign	Het
Syt3	A	G	7: 44,395,683	K480E	probably damaging	Het
Thop1	C	T	10: 81,077,983	T186I	probably benign	Het
Trim55	G	A	3: 19,691,486	E509K	possibly damaging	Het
Upf2	A	G	2: 5,976,010	N469S	unknown	Het
Usp24	G	T	4: 106,380,521	K1125N	probably null	Het
Usp5	A	T	6: 124,820,428	D494E	probably benign	Het
Vps16	C	A	2: 130,443,384	A787D	probably damaging	Het
Washc4	C	T	10: 83,571,362	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 33,068,850	A2053S	probably benign	Het
Zfp74	A	T	7: 29,932,410	D136E	probably damaging	Het

Other mutations in Vmn2r51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01398:Vmn2r51	APN	7	10102414	missense	probably benign
IGL01574:Vmn2r51	APN	7	10102454	missense	probably damaging	1.00
IGL01743:Vmn2r51	APN	7	10100227	missense	probably damaging	0.98
IGL01820:Vmn2r51	APN	7	10105482	missense	probably damaging	1.00
IGL02563:Vmn2r51	APN	7	10100316	missense	probably benign	0.00
IGL02825:Vmn2r51	APN	7	10098119	splice site	probably benign
IGL02834:Vmn2r51	APN	7	10098136	nonsense	probably null
R0617:Vmn2r51	UTSW	7	10100469	missense	possibly damaging	0.65
R0967:Vmn2r51	UTSW	7	10100085	missense	probably damaging	0.97
R1465:Vmn2r51	UTSW	7	10100322	missense	probably damaging	1.00
R1465:Vmn2r51	UTSW	7	10100322	missense	probably damaging	1.00
R1559:Vmn2r51	UTSW	7	10102445	missense	possibly damaging	0.58
R1559:Vmn2r51	UTSW	7	10102446	missense	possibly damaging	0.87
R1598:Vmn2r51	UTSW	7	10105505	missense	probably benign
R1754:Vmn2r51	UTSW	7	10099946	missense	probably benign	0.04
R1836:Vmn2r51	UTSW	7	10098163	nonsense	probably null
R1836:Vmn2r51	UTSW	7	10098164	nonsense	probably null
R3151:Vmn2r51	UTSW	7	10100041	missense	probably damaging	1.00
R4566:Vmn2r51	UTSW	7	10102414	missense	probably benign
R4933:Vmn2r51	UTSW	7	10098320	missense	probably damaging	1.00
R5004:Vmn2r51	UTSW	7	10088005	missense	probably benign
R5050:Vmn2r51	UTSW	7	10100422	missense	probably damaging	0.99
R5510:Vmn2r51	UTSW	7	10102618	missense	possibly damaging	0.95
R5559:Vmn2r51	UTSW	7	10092201	missense	probably damaging	1.00
R6127:Vmn2r51	UTSW	7	10105631	missense	probably damaging	1.00
R6154:Vmn2r51	UTSW	7	10087994	missense	possibly damaging	0.74
R6304:Vmn2r51	UTSW	7	10098237	missense	probably benign	0.00
R6471:Vmn2r51	UTSW	7	10102583	missense	possibly damaging	0.48
R6800:Vmn2r51	UTSW	7	10098264	missense	probably damaging	0.99
R6883:Vmn2r51	UTSW	7	10100098	missense	possibly damaging	0.75
R7191:Vmn2r51	UTSW	7	10100553	missense	probably null	1.00
R7246:Vmn2r51	UTSW	7	10102501	missense	probably benign	0.00
R8939:Vmn2r51	UTSW	7	10100026	missense	possibly damaging	0.85
R9154:Vmn2r51	UTSW	7	10105553	missense	probably damaging	0.96
R9428:Vmn2r51	UTSW	7	10099785	critical splice donor site	probably benign
R9451:Vmn2r51	UTSW	7	10099889	missense	probably damaging	1.00
R9729:Vmn2r51	UTSW	7	10105552	missense	probably benign	0.00
R9767:Vmn2r51	UTSW	7	10105480	missense	probably benign	0.09
Z1176:Vmn2r51	UTSW	7	10088057	missense	possibly damaging	0.76
Z1176:Vmn2r51	UTSW	7	10099908	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CCTTTCAATGTGTTGCCGTG -3'
(R):5'- GCAATTGCATTTGTTGTGATTCCTC -3'

Sequencing Primer
(F):5'- GCCGTGTATTCATCTGACACTG -3'
(R):5'- TGCCTTTGCTATGAAATCAGAATG -3'

Posted On

2018-04-27