Mutagenetix > Incidental Mutation

Incidental Mutation 'R5711:Vmn2r50'

452214

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

043185-MU

Accession Numbers

Essential gene?

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

Stock #

R5711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10037235-10053178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10040372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 532 (M532I)

Ref Sequence

ENSEMBL: ENSMUSP00000074476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074943] [ENSMUST00000086298]

AlphaFold

E9PW61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074943
AA Change: M532I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: M532I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	1.4e-32	PFAM
Pfam:NCD3G	512	565	2.9e-20	PFAM
Pfam:7tm_3	597	833	1.3e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086298
AA Change: M516I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: M516I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	452	7e-31	PFAM
Pfam:NCD3G	496	549	5.3e-19	PFAM
Pfam:7tm_3	579	818	3.9e-78	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	A	T	13: 100,654,214	T18S	probably damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgap19	A	G	19: 41,784,788	V275A	possibly damaging	Het
Cebpz	T	A	17: 78,934,611	Q538L	probably damaging	Het
Chgb	A	T	2: 132,792,698	I187F	probably benign	Het
Cldn1	C	A	16: 26,371,417	L70F	probably damaging	Het
Crybg2	A	T	4: 134,082,627	D1230V	probably damaging	Het
Csmd1	C	T	8: 15,953,703	C2617Y	probably damaging	Het
D7Ertd443e	T	A	7: 134,349,381	N188Y	probably benign	Het
Ddx51	A	G	5: 110,654,924	I214M	probably benign	Het
Dlg5	A	G	14: 24,150,648	V1328A	probably damaging	Het
Dnah2	C	T	11: 69,435,390	C3639Y	probably damaging	Het
Dync1i2	C	T	2: 71,250,982	T511I	probably benign	Het
Fam220a	A	T	5: 143,563,457	E208V	probably damaging	Het
Gm11492	T	C	11: 87,567,897	S366P	probably benign	Het
Gm4846	T	C	1: 166,484,025	S422G	probably benign	Het
Grin2c	C	T	11: 115,250,289	R1001Q	probably benign	Het
H2-T3	T	C	17: 36,187,409	E248G	probably damaging	Het
Idi2	T	C	13: 8,958,482	V92A	probably benign	Het
Iqcd	C	T	5: 120,602,506	Q301*	probably null	Het
Klhl26	T	C	8: 70,452,324	D278G	probably damaging	Het
Mok	G	T	12: 110,808,069	T228K	probably damaging	Het
Olfr381	A	G	11: 73,486,182	I214T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pabpc1	T	C	15: 36,605,830	I101V	probably benign	Het
Ppargc1a	G	T	5: 51,474,220	Q356K	probably damaging	Het
Ptprt	T	A	2: 161,810,604	D608V	probably damaging	Het
Rxfp1	C	T	3: 79,678,747	C96Y	probably damaging	Het
Scn11a	A	C	9: 119,789,924	V784G	probably damaging	Het
Slc12a8	A	G	16: 33,590,309	Y226C	probably damaging	Het
Slc25a33	A	G	4: 149,762,457	V49A	possibly damaging	Het
Slc25a45	T	C	19: 5,884,423	S140P	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Spty2d1	G	T	7: 46,998,097	N361K	possibly damaging	Het
Stk4	G	A	2: 164,099,754	A297T	probably benign	Het
Thsd7b	T	A	1: 129,760,402	N683K	probably damaging	Het
Tln2	T	C	9: 67,392,547	E141G	probably benign	Het
Tmem125	A	T	4: 118,542,019	C72S	probably damaging	Het
Ttn	G	T	2: 76,742,093	T26152K	probably damaging	Het
Uhrf1	G	A	17: 56,320,259	G643D	possibly damaging	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Vmn2r50	APN	7	10037683	missense	probably damaging	1.00
IGL01739:Vmn2r50	APN	7	10037437	missense	probably damaging	1.00
IGL02351:Vmn2r50	APN	7	10053075	missense	probably benign	0.01
IGL02358:Vmn2r50	APN	7	10053075	missense	probably benign	0.01
IGL02871:Vmn2r50	APN	7	10047787	missense	possibly damaging	0.91
IGL02962:Vmn2r50	APN	7	10050325	missense	probably damaging	1.00
IGL03187:Vmn2r50	APN	7	10037441	missense	probably damaging	1.00
IGL03346:Vmn2r50	APN	7	10046002	missense	probably damaging	0.99
PIT4651001:Vmn2r50	UTSW	7	10037732	missense	probably benign	0.30
R0530:Vmn2r50	UTSW	7	10047717	missense	possibly damaging	0.82
R1291:Vmn2r50	UTSW	7	10037477	missense	probably damaging	0.98
R1438:Vmn2r50	UTSW	7	10050135	nonsense	probably null
R1713:Vmn2r50	UTSW	7	10037804	missense	probably damaging	1.00
R1747:Vmn2r50	UTSW	7	10047678	missense	probably benign	0.20
R1750:Vmn2r50	UTSW	7	10052988	missense	possibly damaging	0.69
R1918:Vmn2r50	UTSW	7	10047683	missense	probably benign	0.03
R2435:Vmn2r50	UTSW	7	10053099	missense	probably benign	0.27
R2511:Vmn2r50	UTSW	7	10047713	missense	possibly damaging	0.81
R3795:Vmn2r50	UTSW	7	10037924	missense	probably benign	0.18
R4156:Vmn2r50	UTSW	7	10040382	missense	probably benign	0.12
R4332:Vmn2r50	UTSW	7	10052995	missense	probably benign	0.32
R4399:Vmn2r50	UTSW	7	10047907	missense	possibly damaging	0.81
R4411:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4412:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4413:Vmn2r50	UTSW	7	10050308	missense	probably damaging	0.99
R4645:Vmn2r50	UTSW	7	10037235	makesense	probably null
R5151:Vmn2r50	UTSW	7	10053043	missense	probably benign	0.00
R5175:Vmn2r50	UTSW	7	10037717	missense	probably damaging	1.00
R5291:Vmn2r50	UTSW	7	10047825	missense	probably damaging	1.00
R5457:Vmn2r50	UTSW	7	10047946	missense	probably damaging	0.98
R5559:Vmn2r50	UTSW	7	10037326	missense	probably damaging	1.00
R5579:Vmn2r50	UTSW	7	10050089	missense	probably benign	0.00
R5759:Vmn2r50	UTSW	7	10047978	missense	probably damaging	1.00
R6004:Vmn2r50	UTSW	7	10050059	missense	probably benign	0.00
R6394:Vmn2r50	UTSW	7	10040326	missense	probably damaging	1.00
R6488:Vmn2r50	UTSW	7	10037717	missense	probably damaging	1.00
R6762:Vmn2r50	UTSW	7	10053083	missense	probably benign	0.04
R6995:Vmn2r50	UTSW	7	10046037	nonsense	probably null
R6998:Vmn2r50	UTSW	7	10037757	missense	probably benign	0.03
R7019:Vmn2r50	UTSW	7	10050245	missense	probably benign	0.01
R7027:Vmn2r50	UTSW	7	10047612	missense	probably damaging	1.00
R7231:Vmn2r50	UTSW	7	10053083	missense	probably benign	0.04
R7343:Vmn2r50	UTSW	7	10050350	critical splice acceptor site	probably null
R7554:Vmn2r50	UTSW	7	10050139	missense	probably null	0.00
R7704:Vmn2r50	UTSW	7	10047738	missense	probably benign	0.05
R7768:Vmn2r50	UTSW	7	10037371	missense	probably damaging	0.99
R7773:Vmn2r50	UTSW	7	10037635	missense	possibly damaging	0.70
R7975:Vmn2r50	UTSW	7	10037345	missense	probably benign	0.39
R7987:Vmn2r50	UTSW	7	10038089	missense	probably benign	0.14
R7996:Vmn2r50	UTSW	7	10047868	missense	probably damaging	0.99
R8062:Vmn2r50	UTSW	7	10040313	critical splice donor site	probably null
R8396:Vmn2r50	UTSW	7	10047712	nonsense	probably null
R8466:Vmn2r50	UTSW	7	10050070	missense	probably damaging	0.97
R8985:Vmn2r50	UTSW	7	10046047	missense	probably damaging	1.00
R9068:Vmn2r50	UTSW	7	10038134	missense	possibly damaging	0.46
R9155:Vmn2r50	UTSW	7	10047644	missense	probably damaging	1.00
R9238:Vmn2r50	UTSW	7	10047576	missense	probably benign	0.01
R9576:Vmn2r50	UTSW	7	10037263	missense	probably benign
R9626:Vmn2r50	UTSW	7	10038033	nonsense	probably null
R9631:Vmn2r50	UTSW	7	10053063	nonsense	probably null
X0067:Vmn2r50	UTSW	7	10053027	missense	probably damaging	0.99
Z1088:Vmn2r50	UTSW	7	10037500	missense	possibly damaging	0.91
Z1088:Vmn2r50	UTSW	7	10046159	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGGGTTAAGTCACAGGATATGTTG -3'
(R):5'- GGAAATGTCAATCAGATAGTGTGC -3'

Sequencing Primer
(F):5'- CACAGGATATGTTGTTTGTTTTTGC -3'
(R):5'- GTCAATCAGATAGTGTGCAAAAATG -3'

Posted On

2017-01-03