Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Vmn2r57'

193285

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r57

Ensembl Gene

ENSMUSG00000066537

Gene Name

vomeronasal 2, receptor 57

Synonyms

EG269902

MMRRC Submission

039796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41399732-41448641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41400643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 561 (C561S)

Ref Sequence

ENSEMBL: ENSMUSP00000125817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000165029]

AlphaFold

L7N269

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

probably damaging
Transcript: ENSMUST00000165029
AA Change: C561S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: C561S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	77	471	1.4e-44	PFAM
Pfam:NCD3G	514	567	2.7e-23	PFAM
Pfam:7tm_3	600	835	1.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170929

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,478,943	I24N	possibly damaging	Het
4930522L14Rik	A	G	5: 109,736,789	V401A	probably benign	Het
5830411N06Rik	A	G	7: 140,297,265	E831G	probably benign	Het
9930021J03Rik	T	A	19: 29,719,160	T978S	possibly damaging	Het
Abca7	G	T	10: 80,008,950	W1502L	probably damaging	Het
Adcy7	A	G	8: 88,308,840	E124G	probably benign	Het
Aif1l	G	A	2: 31,965,106	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,395,493	M373L	probably benign	Het
Alg6	T	C	4: 99,741,578	Y131H	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arrdc4	A	T	7: 68,741,874	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798		probably null	Het
Astn1	T	C	1: 158,504,251	I305T	probably benign	Het
Atp5b	T	A	10: 128,084,080		probably benign	Het
Atp8a1	C	A	5: 67,631,567	M1044I	probably benign	Het
Atp9b	C	T	18: 80,909,591		probably null	Het
Btaf1	A	G	19: 36,951,118	H113R	probably benign	Het
C87436	G	T	6: 86,453,612	C338F	possibly damaging	Het
Casz1	T	C	4: 148,942,900		probably benign	Het
Cbr3	T	A	16: 93,690,482	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,517,099	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,685,340	K77R	probably benign	Het
Cdc34	G	T	10: 79,685,338		probably null	Het
Cdh20	A	G	1: 104,934,345		probably benign	Het
Celsr3	A	G	9: 108,828,958	E880G	probably damaging	Het
Cers1	T	G	8: 70,321,491		probably null	Het
Cntn5	T	C	9: 9,673,983	I705V	probably benign	Het
Dennd4c	T	A	4: 86,803,010	D636E	probably damaging	Het
Dnah11	T	C	12: 118,190,825	E240G	probably benign	Het
Dnah2	T	C	11: 69,423,543	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,363,518	E151G	probably damaging	Het
Efcab9	T	G	11: 32,524,457	T9P	possibly damaging	Het
Eif4g2	A	T	7: 111,074,487	F725Y	probably damaging	Het
Epha6	T	A	16: 59,775,728	I867F	probably null	Het
Erbin	T	C	13: 103,843,451		probably benign	Het
Evi5l	A	G	8: 4,203,560	E468G	probably damaging	Het
Filip1l	C	T	16: 57,570,038	R330W	probably damaging	Het
Fmo3	C	T	1: 162,958,573	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,533,518	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,522,508		probably benign	Het
Gm13089	C	A	4: 143,698,270	C201F	probably benign	Het
Gm5581	T	A	6: 131,181,399		noncoding transcript	Het
Gon4l	G	T	3: 88,892,599	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,109,046	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,568,694	R85C	probably benign	Het
Kalrn	C	T	16: 34,212,873	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,377	V117E	probably damaging	Het
Mapk11	A	G	15: 89,144,391		probably null	Het
Mcm3	G	A	1: 20,805,879	R664C	probably damaging	Het
Mex3d	A	G	10: 80,386,936	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,643,023	I260T	probably benign	Het
Ncor2	G	T	5: 125,028,615	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,730,907	D441E	probably damaging	Het
Nek5	A	T	8: 22,109,912	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,318,878	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,780,084	T681K	probably damaging	Het
Olfr1306	A	G	2: 111,912,181	F250L	possibly damaging	Het
Olfr538	T	C	7: 140,574,470	W106R	probably damaging	Het
Otogl	C	T	10: 107,899,461	W154*	probably null	Het
Pcdh20	T	C	14: 88,469,184	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,271	S705P	probably damaging	Het
Piezo2	T	C	18: 63,124,642	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,793,854	Q954R	probably damaging	Het
Prkcq	G	A	2: 11,232,631	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,189,635		probably null	Het
Rb1cc1	A	G	1: 6,214,680		probably benign	Het
Rbm5	A	T	9: 107,767,564	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr3	C	A	2: 112,860,460	V1082L	probably damaging	Het
Sel1l3	C	A	5: 53,170,447	E497*	probably null	Het
Serpina6	A	T	12: 103,653,923	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,376,802	T166S	probably benign	Het
Skint7	T	C	4: 111,982,073	L188S	probably benign	Het
Slc25a45	C	T	19: 5,884,930	A269V	probably damaging	Het
Sltm	A	G	9: 70,561,800	T114A	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spen	C	A	4: 141,472,950	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,319,537	I445F	possibly damaging	Het
Stox2	A	T	8: 47,194,016	Y200*	probably null	Het
Strada	C	A	11: 106,164,184	R384L	probably damaging	Het
Tctn2	G	A	5: 124,619,031		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,249,282	R461L	probably benign	Het
Tmem65	A	G	15: 58,790,149		probably benign	Het
Tpst1	G	T	5: 130,114,502	V294F	possibly damaging	Het
Trim23	A	G	13: 104,198,618	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,404,617	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,256,179	V92E	probably damaging	Het
Vwa8	A	G	14: 78,908,195	D104G	probably damaging	Het
Wdr25	T	A	12: 109,026,438	L73*	probably null	Het
Wnt9a	G	A	11: 59,330,902	A209T	probably benign	Het
Zcchc17	A	C	4: 130,329,595	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,608,676	M375L	probably benign	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfp202	T	A	9: 40,210,466	D286E	probably benign	Het
Zzef1	T	C	11: 72,893,332	L2021P	probably benign	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41428785	missense	probably benign
IGL01108:Vmn2r57	APN	7	41427584	missense	probably benign	0.01
IGL01112:Vmn2r57	APN	7	41425043	missense	probably damaging	1.00
IGL01516:Vmn2r57	APN	7	41399946	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41400195	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41400450	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41428226	missense	probably benign
IGL02801:Vmn2r57	APN	7	41448632	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41428074	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41399741	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41400652	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41399733	splice site	probably null
R0305:Vmn2r57	UTSW	7	41427543	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41428801	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41427804	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41428211	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41427830	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41400124	missense	probably benign	0.38
R1848:Vmn2r57	UTSW	7	41428107	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41448577	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41428825	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41428074	missense	probably benign	0.00
R2394:Vmn2r57	UTSW	7	41400195	missense	possibly damaging	0.73
R3937:Vmn2r57	UTSW	7	41428130	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41428239	missense	probably benign
R4423:Vmn2r57	UTSW	7	41426640	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41400468	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41400495	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41428662	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41426550	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41400240	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41427939	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41399974	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41448472	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41428690	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41399860	missense	probably benign
R6381:Vmn2r57	UTSW	7	41428818	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41428665	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41399794	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41400286	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41426724	missense	probably benign	0.01
R7633:Vmn2r57	UTSW	7	41425089	missense	possibly damaging	0.76
R7811:Vmn2r57	UTSW	7	41425015	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41426759	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41400253	missense	probably benign	0.01
R8345:Vmn2r57	UTSW	7	41427544	missense	possibly damaging	0.81
R8360:Vmn2r57	UTSW	7	41400216	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41427596	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41428739	missense	probably damaging	1.00
R8955:Vmn2r57	UTSW	7	41400147	missense	possibly damaging	0.64
R8985:Vmn2r57	UTSW	7	41399835	missense	probably benign
R9108:Vmn2r57	UTSW	7	41428768	missense	possibly damaging	0.87
R9160:Vmn2r57	UTSW	7	41426735	missense	possibly damaging	0.48
R9354:Vmn2r57	UTSW	7	41400239	missense	probably benign	0.01
R9566:Vmn2r57	UTSW	7	41427665	missense	probably benign	0.32
R9633:Vmn2r57	UTSW	7	41426582	missense	probably benign	0.00
X0026:Vmn2r57	UTSW	7	41428125	missense	probably benign	0.03
X0026:Vmn2r57	UTSW	7	41428561	missense	possibly damaging	0.91
X0065:Vmn2r57	UTSW	7	41427971	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41400498	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGAACCCGATTATTGGCCTTGACA -3'
(R):5'- TGCAACAGAGTCACAAATTCAGGGAT -3'

Sequencing Primer
(F):5'- CGATTATTGGCCTTGACAATGGG -3'
(R):5'- GGGAGGTAACACCTGTGGATTAA -3'

Posted On

2014-05-23