Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Vmn2r50'

89944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

Accession Numbers

Essential gene?

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

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

10037235-10053178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10037683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 697 (C697Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083478 (fasta)

Gene Model

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

AlphaFold

E9PW61

Predicted Effect

probably damaging
Transcript: ENSMUST00000074943
AA Change: C713Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: C713Y

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 damaging
Transcript: ENSMUST00000086298
AA Change: C697Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: C697Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5a1	T	C	18: 77,780,312		probably benign	Het
Ccnc	A	G	4: 21,732,505	I81V	probably benign	Het
Cep112	A	G	11: 108,531,411	D560G	probably null	Het
Dis3	A	G	14: 99,079,423	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,010,086		probably benign	Het
Enpp4	T	C	17: 44,099,603	K361E	possibly damaging	Het
Erap1	A	T	13: 74,662,423	K294*	probably null	Het
Erbb4	T	A	1: 68,290,282	Y636F	probably benign	Het
Fads1	C	A	19: 10,194,030	Q342K	probably benign	Het
Fntb	A	T	12: 76,920,130	T447S	probably benign	Het
Hdac4	A	G	1: 91,930,146		probably benign	Het
Kcnh2	A	G	5: 24,326,524	I463T	probably damaging	Het
Kif13a	G	T	13: 46,752,289	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,422,743	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,740,796	S425P	probably benign	Het
Lrp1b	T	C	2: 41,110,883	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,715,584	T173S	probably benign	Het
Muc4	T	C	16: 32,763,966	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,820,851	P676L	probably damaging	Het
Olfr1023	T	C	2: 85,887,600	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,474,993	M426T	probably benign	Het
Pik3cd	A	G	4: 149,652,666	V891A	probably damaging	Het
Polr1b	A	G	2: 129,125,555	N956S	probably benign	Het
Ppil3	T	C	1: 58,444,591	M1V	probably null	Het
Rad1	T	A	15: 10,493,200	S238T	possibly damaging	Het
Shc3	A	C	13: 51,516,559	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,589,629		probably null	Het
Smg5	A	G	3: 88,349,245	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,583,200		probably null	Het
Sstr4	T	C	2: 148,395,880	L137P	probably damaging	Het
Taar8b	C	T	10: 24,091,595	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,260,992	Y860C	probably damaging	Het
Tll1	A	T	8: 64,074,289	S399R	probably damaging	Het
Tns1	T	C	1: 73,919,648		probably benign	Het
Trim10	T	A	17: 36,877,288		probably null	Het
Ttn	C	T	2: 76,732,351		probably null	Het
Usp43	T	C	11: 67,855,938	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,463,281	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,605,155	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,384,848	K575E	probably damaging	Het
Zcchc8	A	C	5: 123,720,719		probably null	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03