Mutagenetix > Incidental Mutation

Incidental Mutation 'R6762:Vmn2r50'

531738

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10037235-10053178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10053083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 32 (N32K)

Ref Sequence

ENSEMBL: ENSMUSP00000083478 (fasta)

Gene Model

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

AlphaFold

E9PW61

Predicted Effect

probably benign
Transcript: ENSMUST00000074943
AA Change: N32K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: N32K

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

probably benign
Transcript: ENSMUST00000086298
AA Change: N32K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: N32K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,099,668	Y27H	probably benign	Het
Angptl3	T	A	4: 99,037,417	S327T	possibly damaging	Het
Arl6ip4	GGAAGAAGAAGAAGAAGAA	GGAAGAAGAAGAAGAAGAAGAA	5: 124,117,050		probably benign	Het
Cyp2s1	A	T	7: 25,808,070	L318H	probably damaging	Het
Dnah14	T	C	1: 181,757,259	L3185P	probably damaging	Het
Dnah7b	T	C	1: 46,224,742	V2128A	probably benign	Het
Ehhadh	A	T	16: 21,762,459	F594L	probably benign	Het
En2	A	G	5: 28,170,353	N298S	possibly damaging	Het
Epha5	T	A	5: 84,331,726	N140Y	probably damaging	Het
Fam151b	C	T	13: 92,468,050	V144I	possibly damaging	Het
Fanca	C	A	8: 123,271,303	A1215S	probably benign	Het
Fancd2	T	A	6: 113,586,016		probably null	Het
Fat2	T	C	11: 55,253,482		probably null	Het
Gm4513	T	C	7: 20,594,193	N31S	probably benign	Het
Hspg2	A	T	4: 137,551,803	I3066F	possibly damaging	Het
Krt10	T	C	11: 99,387,057	T355A	possibly damaging	Het
Lims1	C	A	10: 58,412,545	H275N	probably damaging	Het
Map3k19	C	T	1: 127,847,264	G112D	probably damaging	Het
Mdn1	T	A	4: 32,676,786	N619K	possibly damaging	Het
Mpp6	T	A	6: 50,180,438		probably null	Het
Mtor	A	G	4: 148,538,481	T1977A	possibly damaging	Het
Nos2	T	G	11: 78,959,748	L1144R	possibly damaging	Het
Olfr1085	A	T	2: 86,657,844	F205I	probably benign	Het
Olfr608	G	C	7: 103,470,389	V117L	probably benign	Het
Olfr780	G	A	10: 129,322,256	C211Y	probably damaging	Het
Pcdhga9	C	A	18: 37,737,268	S50Y	probably damaging	Het
Pfn4	T	A	12: 4,775,487	M108K	probably damaging	Het
Prep	T	C	10: 45,148,123		probably null	Het
Qtrt1	T	A	9: 21,412,082	H76Q	probably damaging	Het
Rpa1	T	A	11: 75,340,345	S73C	possibly damaging	Het
Senp5	A	G	16: 31,989,884	V157A	probably damaging	Het
Snapc3	T	C	4: 83,435,258	L178P	probably damaging	Het
Sptbn4	A	G	7: 27,394,208	F1340L	probably damaging	Het
Srd5a3	T	A	5: 76,153,551	I85K	probably benign	Het
Taar2	C	T	10: 23,941,402	T280M	probably damaging	Het
Tgfb3	T	C	12: 86,069,463	D177G	probably benign	Het
Tpt1	A	G	14: 75,846,381	D94G	probably benign	Het
Trpm4	A	G	7: 45,304,816		probably benign	Het
Trpv4	C	T	5: 114,625,110	R746H	probably benign	Het
Txndc2	T	C	17: 65,638,972	D70G	probably damaging	Het
Ugcg	T	A	4: 59,219,530	I289N	possibly damaging	Het
Vmn2r2	C	G	3: 64,134,449	D282H	probably damaging	Het
Wdpcp	C	T	11: 21,721,244	T495I	probably benign	Het
Zfp961	T	A	8: 71,966,114	C51S	possibly damaging	Het
Zxdc	C	T	6: 90,382,183	A599V	probably benign	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
R5711:Vmn2r50	UTSW	7	10040372	missense	possibly damaging	0.81
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
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'- TGTTCAGACTTAGCAACAGGAC -3'
(R):5'- ATGCAATAAACCTCACCTTTGC -3'

Sequencing Primer
(F):5'- TCAGACTTAGCAACAGGACAGAAGTC -3'
(R):5'- TTGCACAAAGAAATAAATGCAAGC -3'

Posted On

2018-08-29