Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Vmn2r54'

206114

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

EG666085, Gm470, LOC232871, LOC385080

MMRRC Submission

039880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12615233-12636134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12632311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 232 (M232T)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086210]

AlphaFold

A0A3B2W422

Predicted Effect

probably benign
Transcript: ENSMUST00000086210
AA Change: M232T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: M232T

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	4.3e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	1.2e-54	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12631913	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12632082	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12615300	missense	probably benign
IGL02028:Vmn2r54	APN	7	12632161	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12615606	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12635983	missense	probably damaging	1.00
IGL03062:Vmn2r54	APN	7	12632428	missense	probably damaging	0.98
IGL03120:Vmn2r54	APN	7	12615387	missense	probably damaging	1.00
PIT4453001:Vmn2r54	UTSW	7	12629742	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12632497	missense	probably benign
R0360:Vmn2r54	UTSW	7	12615649	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12632507	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12616211	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12635888	missense	probably benign	0.00
R2012:Vmn2r54	UTSW	7	12615877	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12629710	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12615493	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12615651	missense	probably damaging	0.98
R2430:Vmn2r54	UTSW	7	12632006	missense	probably damaging	0.99
R2829:Vmn2r54	UTSW	7	12615690	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12635992	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12615294	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12632296	missense	probably benign	0.42
R4486:Vmn2r54	UTSW	7	12632272	nonsense	probably null
R4881:Vmn2r54	UTSW	7	12629671	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12616223	splice site	probably null
R5536:Vmn2r54	UTSW	7	12632416	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12615369	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12629667	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12615282	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12615352	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12635947	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12632216	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12632278	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12615981	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12631956	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12615435	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12615493	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12629865	missense	probably benign
R6886:Vmn2r54	UTSW	7	12632153	missense	probably benign	0.02
R7041:Vmn2r54	UTSW	7	12629824	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12615795	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12616074	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12622151	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12632161	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12631990	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12622117	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12616223	splice site	probably null
R7634:Vmn2r54	UTSW	7	12615703	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12632269	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12615816	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12615961	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12632091	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12616086	missense	possibly damaging	0.72
R8712:Vmn2r54	UTSW	7	12635950	missense	probably benign	0.22
R8853:Vmn2r54	UTSW	7	12615855	missense	probably damaging	1.00
R8859:Vmn2r54	UTSW	7	12629775	missense	possibly damaging	0.70
R9146:Vmn2r54	UTSW	7	12632720	missense	probably benign	0.05
R9157:Vmn2r54	UTSW	7	12632128	missense	possibly damaging	0.93
R9344:Vmn2r54	UTSW	7	12632356	missense	probably benign
R9423:Vmn2r54	UTSW	7	12615514	missense	probably damaging	1.00
R9534:Vmn2r54	UTSW	7	12632166	missense	probably benign	0.03
R9632:Vmn2r54	UTSW	7	12629826	missense	possibly damaging	0.74
R9661:Vmn2r54	UTSW	7	12615239	missense	probably benign
R9710:Vmn2r54	UTSW	7	12629826	missense	possibly damaging	0.74
U24488:Vmn2r54	UTSW	7	12615429	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12615370	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12632108	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACTCTCATTTCCTGTGCAG -3'
(R):5'- TCCTATCAGTCCTTGGGGAAG -3'

Sequencing Primer
(F):5'- TCATTTCCTGTGCAGAACTGG -3'
(R):5'- CTATCAGTCCTTGGGGAAGATTGAAG -3'

Posted On

2014-06-23