Mutagenetix > Incidental Mutation

Incidental Mutation 'R2430:Vmn2r54'

250374

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12365933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 334 (I334F)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086210]

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: I334F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: I334F

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	4.3e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	1.2e-54	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	T	C	15: 74,543,740 (GRCm39)	E161G	probably benign	Het
Ass1	A	G	2: 31,391,508 (GRCm39)	H261R	probably damaging	Het
Car11	T	A	7: 45,353,072 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,914,329 (GRCm39)	H844R	probably damaging	Het
Dnai2	A	G	11: 114,648,012 (GRCm39)		probably benign	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Klhl40	A	G	9: 121,609,667 (GRCm39)	D484G	possibly damaging	Het
Knstrn	A	G	2: 118,664,584 (GRCm39)		probably benign	Het
Nckap5	A	G	1: 125,842,494 (GRCm39)	S1838P	probably damaging	Het
Nipsnap2	A	G	5: 129,821,855 (GRCm39)	D117G	possibly damaging	Het
Nudt15	C	T	14: 73,762,742 (GRCm39)		probably benign	Het
Or5w16	T	A	2: 87,576,999 (GRCm39)	M153K	possibly damaging	Het
Or8k35	A	G	2: 86,425,052 (GRCm39)	I40T	probably benign	Het
Pcdh20	T	C	14: 88,704,984 (GRCm39)	D772G	probably damaging	Het
Pdss1	T	A	2: 22,819,605 (GRCm39)	Y289*	probably null	Het
Phc2	A	T	4: 128,601,776 (GRCm39)	Y77F	probably damaging	Het
Ppip5k2	A	T	1: 97,662,755 (GRCm39)	Y667N	probably damaging	Het
Prdm2	A	G	4: 142,859,733 (GRCm39)	S1186P	possibly damaging	Het
Prr36	A	T	8: 4,263,488 (GRCm39)		probably benign	Het
Reck	C	T	4: 43,930,202 (GRCm39)	T592I	possibly damaging	Het
Rprd2	T	A	3: 95,672,107 (GRCm39)	K1015*	probably null	Het
Tfrc	T	G	16: 32,445,529 (GRCm39)	Y617D	probably damaging	Het
Tnfsf11	A	C	14: 78,521,752 (GRCm39)	D152E	probably benign	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12,365,840 (GRCm39)	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12,366,009 (GRCm39)	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12,349,227 (GRCm39)	missense	probably benign
IGL02028:Vmn2r54	APN	7	12,366,088 (GRCm39)	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12,349,533 (GRCm39)	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12,369,910 (GRCm39)	missense	probably damaging	1.00
IGL03062:Vmn2r54	APN	7	12,366,355 (GRCm39)	missense	probably damaging	0.98
IGL03120:Vmn2r54	APN	7	12,349,314 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Vmn2r54	UTSW	7	12,363,669 (GRCm39)	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12,366,424 (GRCm39)	missense	probably benign
R0360:Vmn2r54	UTSW	7	12,349,576 (GRCm39)	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12,366,434 (GRCm39)	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12,350,138 (GRCm39)	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12,369,815 (GRCm39)	missense	probably benign	0.00
R1856:Vmn2r54	UTSW	7	12,366,238 (GRCm39)	missense	probably benign
R2012:Vmn2r54	UTSW	7	12,349,804 (GRCm39)	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12,363,637 (GRCm39)	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12,349,578 (GRCm39)	missense	probably damaging	0.98
R2829:Vmn2r54	UTSW	7	12,349,617 (GRCm39)	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12,369,919 (GRCm39)	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12,349,221 (GRCm39)	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12,366,223 (GRCm39)	missense	probably benign	0.42
R4486:Vmn2r54	UTSW	7	12,366,199 (GRCm39)	nonsense	probably null
R4881:Vmn2r54	UTSW	7	12,363,598 (GRCm39)	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R5536:Vmn2r54	UTSW	7	12,366,343 (GRCm39)	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12,349,296 (GRCm39)	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12,363,594 (GRCm39)	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12,349,209 (GRCm39)	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12,369,874 (GRCm39)	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12,349,279 (GRCm39)	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12,366,143 (GRCm39)	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12,366,205 (GRCm39)	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12,349,908 (GRCm39)	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12,365,883 (GRCm39)	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12,349,362 (GRCm39)	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12,363,792 (GRCm39)	missense	probably benign
R6886:Vmn2r54	UTSW	7	12,366,080 (GRCm39)	missense	probably benign	0.02
R7041:Vmn2r54	UTSW	7	12,363,751 (GRCm39)	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12,349,722 (GRCm39)	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12,350,001 (GRCm39)	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12,356,078 (GRCm39)	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12,366,088 (GRCm39)	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12,365,917 (GRCm39)	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12,356,044 (GRCm39)	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R7634:Vmn2r54	UTSW	7	12,349,630 (GRCm39)	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12,366,196 (GRCm39)	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12,349,743 (GRCm39)	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12,349,888 (GRCm39)	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12,366,018 (GRCm39)	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12,350,013 (GRCm39)	missense	possibly damaging	0.72
R8712:Vmn2r54	UTSW	7	12,369,877 (GRCm39)	missense	probably benign	0.22
R8853:Vmn2r54	UTSW	7	12,349,782 (GRCm39)	missense	probably damaging	1.00
R8859:Vmn2r54	UTSW	7	12,363,702 (GRCm39)	missense	possibly damaging	0.70
R9146:Vmn2r54	UTSW	7	12,366,647 (GRCm39)	missense	probably benign	0.05
R9157:Vmn2r54	UTSW	7	12,366,055 (GRCm39)	missense	possibly damaging	0.93
R9344:Vmn2r54	UTSW	7	12,366,283 (GRCm39)	missense	probably benign
R9423:Vmn2r54	UTSW	7	12,349,441 (GRCm39)	missense	probably damaging	1.00
R9534:Vmn2r54	UTSW	7	12,366,093 (GRCm39)	missense	probably benign	0.03
R9632:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
R9661:Vmn2r54	UTSW	7	12,349,166 (GRCm39)	missense	probably benign
R9710:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
U24488:Vmn2r54	UTSW	7	12,349,356 (GRCm39)	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12,349,297 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12,366,035 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCTGCTGCACTTCTACAG -3'
(R):5'- TCACAGCAGCAGGGCTATTG -3'

Sequencing Primer
(F):5'- CAGCTAAGTAAAAACCATTATGGCTG -3'
(R):5'- AGCAGGGCTATTGGCTTCC -3'

Posted On

2014-11-12