Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Vmn2r50'

436453

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r50

Ensembl Gene

ENSMUSG00000094606

Gene Name

vomeronasal 2, receptor 50

Synonyms

EG434117

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5559 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

9771162-9787105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9771253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 816 (Y816C)

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: Y832C

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

SMART Domains

Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: Y832C

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: Y816C

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

SMART Domains

Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: Y816C

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,555,981 (GRCm39)	R65L	unknown	Het
Abcc5	A	T	16: 20,157,636 (GRCm39)	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,522,354 (GRCm39)	C129*	probably null	Het
Brd10	A	C	19: 29,694,363 (GRCm39)	F1710C	possibly damaging	Het
Brox	A	T	1: 183,073,552 (GRCm39)	S39R	possibly damaging	Het
Ccdc168	C	G	1: 44,097,675 (GRCm39)	R1141T	possibly damaging	Het
Cd109	T	C	9: 78,568,250 (GRCm39)	V310A	probably benign	Het
Chd9	G	A	8: 91,742,553 (GRCm39)		probably null	Het
Chmp2b	A	T	16: 65,337,316 (GRCm39)	I170N	probably damaging	Het
Cnp	G	T	11: 100,467,243 (GRCm39)	G62V	probably damaging	Het
Dcp2	C	A	18: 44,538,554 (GRCm39)	P206T	probably damaging	Het
Dhx57	A	T	17: 80,561,808 (GRCm39)	V902E	possibly damaging	Het
Dmwd	G	A	7: 18,814,363 (GRCm39)	V338M	probably damaging	Het
Eva1c	A	G	16: 90,701,139 (GRCm39)	D258G	probably benign	Het
Flvcr2	T	A	12: 85,851,181 (GRCm39)	F448L	probably benign	Het
Garin5b	A	G	7: 4,761,449 (GRCm39)	V421A	probably damaging	Het
Gchfr	C	T	2: 119,000,187 (GRCm39)	H23Y	probably benign	Het
Helz2	T	A	2: 180,871,919 (GRCm39)	M2617L	probably damaging	Het
Ighv5-9-1	A	T	12: 113,699,745 (GRCm39)	Y122*	probably null	Het
Lrrtm3	A	G	10: 63,766,045 (GRCm39)	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Obox5	A	T	7: 15,491,522 (GRCm39)	I21F	probably benign	Het
Or51f1	C	T	7: 102,506,414 (GRCm39)	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,488,427 (GRCm39)	I376V	possibly damaging	Het
Poli	A	G	18: 70,642,356 (GRCm39)	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,450,078 (GRCm39)	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,483 (GRCm39)	S220P	probably damaging	Het
Serpinb9h	T	A	13: 33,588,301 (GRCm39)	D295E	probably benign	Het
Sf3b3	A	T	8: 111,564,847 (GRCm39)	D320E	probably benign	Het
Slc6a21	C	A	7: 44,937,853 (GRCm39)	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,601,176 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,317,365 (GRCm39)	S295T	probably benign	Het
Tas2r104	T	A	6: 131,662,094 (GRCm39)	H205L	probably damaging	Het
Tmem69	C	G	4: 116,410,388 (GRCm39)	G194A	probably damaging	Het
Unc5c	G	T	3: 141,509,548 (GRCm39)	C676F	probably damaging	Het
Unkl	A	G	17: 25,424,687 (GRCm39)	N52S	probably benign	Het
Vmn1r233	T	C	17: 21,214,839 (GRCm39)	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,898 (GRCm39)	N141S	probably damaging	Het
Vmn2r51	T	A	7: 9,826,128 (GRCm39)	S540C	probably damaging	Het

Other mutations in Vmn2r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Vmn2r50	APN	7	9,771,610 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATCACTAGAGCAACCAGTGAG -3'
(R):5'- TTGGCCAAGAATCTGCCTGAC -3'

Sequencing Primer
(F):5'- CCAGTGAGAGTGATTCTAAAACTG -3'
(R):5'- TCTGCCTGACACATTCAATGAAG -3'

Posted On

2016-10-24