Mutagenetix > Incidental Mutation

Incidental Mutation 'R7987:Vmn2r50'

651533

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7987 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

10037235-10053178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10038089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 562 (T562A)

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: T578A

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: T578A

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: T562A

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: T562A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,574,305	Q161K	unknown	Het
Acsl5	T	C	19: 55,277,973		probably null	Het
Adgre1	T	A	17: 57,447,987	I695N	possibly damaging	Het
Ank2	T	C	3: 126,945,707	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,719,986	G810D	probably damaging	Het
Bod1l	A	C	5: 41,795,070	N2868K	probably damaging	Het
Brd7	T	C	8: 88,334,141	T526A	probably benign	Het
C9	T	A	15: 6,467,462	Y213*	probably null	Het
Cacna1i	G	A	15: 80,320,352		probably null	Het
Card6	T	A	15: 5,100,525	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,876,111	Y485C	probably damaging	Het
Celsr1	A	G	15: 86,032,993	F260L	probably damaging	Het
Dnah8	A	G	17: 30,744,524	D2304G	probably damaging	Het
Dnase1	A	G	16: 4,037,970	D55G	probably damaging	Het
Ecsit	C	A	9: 22,073,484	R296L	probably damaging	Het
Entpd8	A	G	2: 25,084,766	D403G	probably damaging	Het
Epha2	C	A	4: 141,308,480	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,543,585	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,328,098	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,583,387	M2R	probably benign	Het
Gpr146	G	T	5: 139,392,685	A81S	possibly damaging	Het
Heg1	C	A	16: 33,720,730	S419*	probably null	Het
Hps5	A	C	7: 46,769,051	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,571,606	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,866	M342R	probably damaging	Het
Itgal	A	G	7: 127,328,298	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,669,863	T1428A	probably benign	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,175,141	D893G	probably benign	Het
Mst1r	A	T	9: 107,912,798		probably null	Het
Mtus2	G	T	5: 148,232,026		probably null	Het
Myo3b	A	G	2: 70,330,933	T1174A	probably benign	Het
Nsun5	G	A	5: 135,375,680	R424H	probably damaging	Het
Oacyl	A	G	18: 65,698,391	E33G	probably benign	Het
Olfr77	T	C	9: 19,920,314	F35S	possibly damaging	Het
Olfr798	T	C	10: 129,625,969	I31V	probably benign	Het
Palm	C	T	10: 79,793,705		probably benign	Het
Papln	A	G	12: 83,775,382	E337G	probably damaging	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Setd1b	A	G	5: 123,147,680	D263G	unknown	Het
Slc10a7	T	A	8: 78,697,214	F202I	probably benign	Het
Smpd3	T	C	8: 106,259,894	I455V	probably benign	Het
Snip1	G	T	4: 125,066,939	G63W	probably damaging	Het
Sorl1	T	A	9: 41,977,561	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,505,253	T36A	probably benign	Het
Tnxb	T	C	17: 34,710,220	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,851,480	P96L	probably damaging	Het
Triobp	T	A	15: 79,001,544	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,644,169	I647T	probably benign	Het
Ttn	A	G	2: 76,891,561	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,395,855	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 20,846,897	I116T	probably benign	Het
Vmn1r26	A	T	6: 58,008,279	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,340,149	T296I	probably damaging	Het
Wdfy2	A	G	14: 62,951,931	D283G	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
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
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
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'- GGCTCTGTTAGGATGGCCAATG -3'
(R):5'- CTCAGCATCAAAGGCAGCATTG -3'

Sequencing Primer
(F):5'- CACAGAAAACAGGACATGAGTG -3'
(R):5'- CAGCATTGCAAGACTTCTTTCATTAC -3'

Posted On

2020-09-15