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: 0.141) question?

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

9771162-9787105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9771610 bp (GRCm39)

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
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (GRCm39)		probably null	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Vmn2r50	APN	7	9,771,364 (GRCm39)	missense	probably damaging	1.00
IGL02351:Vmn2r50	APN	7	9,787,002 (GRCm39)	missense	probably benign	0.01
IGL02358:Vmn2r50	APN	7	9,787,002 (GRCm39)	missense	probably benign	0.01
IGL02871:Vmn2r50	APN	7	9,781,714 (GRCm39)	missense	possibly damaging	0.91
IGL02962:Vmn2r50	APN	7	9,784,252 (GRCm39)	missense	probably damaging	1.00
IGL03187:Vmn2r50	APN	7	9,771,368 (GRCm39)	missense	probably damaging	1.00
IGL03346:Vmn2r50	APN	7	9,779,929 (GRCm39)	missense	probably damaging	0.99
PIT4651001:Vmn2r50	UTSW	7	9,771,659 (GRCm39)	missense	probably benign	0.30
R0530:Vmn2r50	UTSW	7	9,781,644 (GRCm39)	missense	possibly damaging	0.82
R1291:Vmn2r50	UTSW	7	9,771,404 (GRCm39)	missense	probably damaging	0.98
R1438:Vmn2r50	UTSW	7	9,784,062 (GRCm39)	nonsense	probably null
R1713:Vmn2r50	UTSW	7	9,771,731 (GRCm39)	missense	probably damaging	1.00
R1747:Vmn2r50	UTSW	7	9,781,605 (GRCm39)	missense	probably benign	0.20
R1750:Vmn2r50	UTSW	7	9,786,915 (GRCm39)	missense	possibly damaging	0.69
R1918:Vmn2r50	UTSW	7	9,781,610 (GRCm39)	missense	probably benign	0.03
R2435:Vmn2r50	UTSW	7	9,787,026 (GRCm39)	missense	probably benign	0.27
R2511:Vmn2r50	UTSW	7	9,781,640 (GRCm39)	missense	possibly damaging	0.81
R3795:Vmn2r50	UTSW	7	9,771,851 (GRCm39)	missense	probably benign	0.18
R4156:Vmn2r50	UTSW	7	9,774,309 (GRCm39)	missense	probably benign	0.12
R4332:Vmn2r50	UTSW	7	9,786,922 (GRCm39)	missense	probably benign	0.32
R4399:Vmn2r50	UTSW	7	9,781,834 (GRCm39)	missense	possibly damaging	0.81
R4411:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4412:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4413:Vmn2r50	UTSW	7	9,784,235 (GRCm39)	missense	probably damaging	0.99
R4645:Vmn2r50	UTSW	7	9,771,162 (GRCm39)	makesense	probably null
R5151:Vmn2r50	UTSW	7	9,786,970 (GRCm39)	missense	probably benign	0.00
R5175:Vmn2r50	UTSW	7	9,771,644 (GRCm39)	missense	probably damaging	1.00
R5291:Vmn2r50	UTSW	7	9,781,752 (GRCm39)	missense	probably damaging	1.00
R5457:Vmn2r50	UTSW	7	9,781,873 (GRCm39)	missense	probably damaging	0.98
R5559:Vmn2r50	UTSW	7	9,771,253 (GRCm39)	missense	probably damaging	1.00
R5579:Vmn2r50	UTSW	7	9,784,016 (GRCm39)	missense	probably benign	0.00
R5711:Vmn2r50	UTSW	7	9,774,299 (GRCm39)	missense	possibly damaging	0.81
R5759:Vmn2r50	UTSW	7	9,781,905 (GRCm39)	missense	probably damaging	1.00
R6004:Vmn2r50	UTSW	7	9,783,986 (GRCm39)	missense	probably benign	0.00
R6394:Vmn2r50	UTSW	7	9,774,253 (GRCm39)	missense	probably damaging	1.00
R6488:Vmn2r50	UTSW	7	9,771,644 (GRCm39)	missense	probably damaging	1.00
R6762:Vmn2r50	UTSW	7	9,787,010 (GRCm39)	missense	probably benign	0.04
R6995:Vmn2r50	UTSW	7	9,779,964 (GRCm39)	nonsense	probably null
R6998:Vmn2r50	UTSW	7	9,771,684 (GRCm39)	missense	probably benign	0.03
R7019:Vmn2r50	UTSW	7	9,784,172 (GRCm39)	missense	probably benign	0.01
R7027:Vmn2r50	UTSW	7	9,781,539 (GRCm39)	missense	probably damaging	1.00
R7231:Vmn2r50	UTSW	7	9,787,010 (GRCm39)	missense	probably benign	0.04
R7343:Vmn2r50	UTSW	7	9,784,277 (GRCm39)	critical splice acceptor site	probably null
R7554:Vmn2r50	UTSW	7	9,784,066 (GRCm39)	missense	probably null	0.00
R7704:Vmn2r50	UTSW	7	9,781,665 (GRCm39)	missense	probably benign	0.05
R7768:Vmn2r50	UTSW	7	9,771,298 (GRCm39)	missense	probably damaging	0.99
R7773:Vmn2r50	UTSW	7	9,771,562 (GRCm39)	missense	possibly damaging	0.70
R7975:Vmn2r50	UTSW	7	9,771,272 (GRCm39)	missense	probably benign	0.39
R7987:Vmn2r50	UTSW	7	9,772,016 (GRCm39)	missense	probably benign	0.14
R7996:Vmn2r50	UTSW	7	9,781,795 (GRCm39)	missense	probably damaging	0.99
R8062:Vmn2r50	UTSW	7	9,774,240 (GRCm39)	critical splice donor site	probably null
R8396:Vmn2r50	UTSW	7	9,781,639 (GRCm39)	nonsense	probably null
R8466:Vmn2r50	UTSW	7	9,783,997 (GRCm39)	missense	probably damaging	0.97
R8985:Vmn2r50	UTSW	7	9,779,974 (GRCm39)	missense	probably damaging	1.00
R9068:Vmn2r50	UTSW	7	9,772,061 (GRCm39)	missense	possibly damaging	0.46
R9155:Vmn2r50	UTSW	7	9,781,571 (GRCm39)	missense	probably damaging	1.00
R9238:Vmn2r50	UTSW	7	9,781,503 (GRCm39)	missense	probably benign	0.01
R9576:Vmn2r50	UTSW	7	9,771,190 (GRCm39)	missense	probably benign
R9626:Vmn2r50	UTSW	7	9,771,960 (GRCm39)	nonsense	probably null
R9631:Vmn2r50	UTSW	7	9,786,990 (GRCm39)	nonsense	probably null
X0067:Vmn2r50	UTSW	7	9,786,954 (GRCm39)	missense	probably damaging	0.99
Z1088:Vmn2r50	UTSW	7	9,780,086 (GRCm39)	missense	probably benign	0.01
Z1088:Vmn2r50	UTSW	7	9,771,427 (GRCm39)	missense	possibly damaging	0.91

Posted On

2013-12-03