Mutagenetix > Incidental Mutation

Incidental Mutation 'R1343:Vmn2r53'

156431

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r53

Ensembl Gene

ENSMUSG00000096002

Gene Name

vomeronasal 2, receptor 53

Synonyms

EG637908

MMRRC Submission

039408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12315397-12342583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12318701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 458 (P458L)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170412]

AlphaFold

A0A3B2W4A7

Predicted Effect

probably benign
Transcript: ENSMUST00000170412
AA Change: P458L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: P458L

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	3.6e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	3.1e-53	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	T	C	5: 110,385,832 (GRCm39)	V361A	probably damaging	Het
Art1	A	G	7: 101,756,160 (GRCm39)	Y117C	probably damaging	Het
Cecr2	T	C	6: 120,731,672 (GRCm39)	Y215H	probably damaging	Het
Col6a3	T	C	1: 90,696,069 (GRCm39)	E2666G	unknown	Het
Cps1	T	A	1: 67,248,768 (GRCm39)	V1165E	probably damaging	Het
Gpr65	A	T	12: 98,241,888 (GRCm39)	K180N	probably benign	Het
Gsto2	A	T	19: 47,873,146 (GRCm39)		probably null	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Kif19a	A	G	11: 114,676,653 (GRCm39)	D494G	probably benign	Het
Lnx1	T	C	5: 74,758,040 (GRCm39)	R695G	probably damaging	Het
Lonp1	A	G	17: 56,927,272 (GRCm39)	L327P	probably damaging	Het
Nat8	T	C	6: 85,807,603 (GRCm39)	T177A	probably damaging	Het
Nek1	T	A	8: 61,481,709 (GRCm39)	M208K	probably damaging	Het
Obsl1	G	T	1: 75,469,223 (GRCm39)	H1239Q	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Prmt3	C	T	7: 49,467,856 (GRCm39)	S354L	probably benign	Het
Ralgapa1	T	A	12: 55,754,763 (GRCm39)	H1176L	probably damaging	Het
Serpinb9h	G	A	13: 33,588,468 (GRCm39)	C351Y	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,195,596 (GRCm39)	S1618G	probably benign	Het
Syne2	T	C	12: 76,080,417 (GRCm39)	S4784P	probably damaging	Het
Usp14	T	C	18: 10,016,623 (GRCm39)	T73A	probably benign	Het
Zfp292	T	C	4: 34,805,238 (GRCm39)	D2602G	probably damaging	Het

Other mutations in Vmn2r53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Vmn2r53	APN	7	12,334,835 (GRCm39)	missense	possibly damaging	0.70
IGL01997:Vmn2r53	APN	7	12,316,373 (GRCm39)	missense	possibly damaging	0.54
IGL02442:Vmn2r53	APN	7	12,315,656 (GRCm39)	missense	probably damaging	1.00
IGL02449:Vmn2r53	APN	7	12,316,288 (GRCm39)	missense	probably damaging	1.00
IGL02589:Vmn2r53	APN	7	12,315,872 (GRCm39)	missense	possibly damaging	0.93
IGL02986:Vmn2r53	APN	7	12,315,393 (GRCm39)	unclassified	probably benign
IGL03064:Vmn2r53	APN	7	12,334,937 (GRCm39)	missense	possibly damaging	0.89
IGL03093:Vmn2r53	APN	7	12,334,791 (GRCm39)	missense	probably benign	0.03
IGL03244:Vmn2r53	APN	7	12,340,435 (GRCm39)	missense	probably damaging	1.00
IGL03252:Vmn2r53	APN	7	12,340,318 (GRCm39)	missense	probably damaging	1.00
IGL03264:Vmn2r53	APN	7	12,315,819 (GRCm39)	missense	possibly damaging	0.95
IGL03293:Vmn2r53	APN	7	12,332,349 (GRCm39)	missense	probably benign	0.34
R0109:Vmn2r53	UTSW	7	12,315,993 (GRCm39)	missense	probably damaging	1.00
R0453:Vmn2r53	UTSW	7	12,316,338 (GRCm39)	missense	probably damaging	1.00
R0735:Vmn2r53	UTSW	7	12,315,707 (GRCm39)	missense	probably benign
R0881:Vmn2r53	UTSW	7	12,334,859 (GRCm39)	missense	probably benign	0.01
R0894:Vmn2r53	UTSW	7	12,335,141 (GRCm39)	missense	probably benign	0.00
R0973:Vmn2r53	UTSW	7	12,335,319 (GRCm39)	missense	probably damaging	1.00
R0973:Vmn2r53	UTSW	7	12,335,319 (GRCm39)	missense	probably damaging	1.00
R0974:Vmn2r53	UTSW	7	12,335,319 (GRCm39)	missense	probably damaging	1.00
R0990:Vmn2r53	UTSW	7	12,315,429 (GRCm39)	missense	probably benign
R1102:Vmn2r53	UTSW	7	12,332,410 (GRCm39)	missense	possibly damaging	0.94
R1141:Vmn2r53	UTSW	7	12,334,673 (GRCm39)	missense	possibly damaging	0.54
R1263:Vmn2r53	UTSW	7	12,315,533 (GRCm39)	missense	probably benign	0.41
R1750:Vmn2r53	UTSW	7	12,315,632 (GRCm39)	missense	probably damaging	1.00
R1836:Vmn2r53	UTSW	7	12,334,812 (GRCm39)	missense	probably damaging	1.00
R2035:Vmn2r53	UTSW	7	12,332,438 (GRCm39)	missense	possibly damaging	0.76
R2202:Vmn2r53	UTSW	7	12,335,366 (GRCm39)	missense	probably damaging	1.00
R3707:Vmn2r53	UTSW	7	12,315,981 (GRCm39)	missense	possibly damaging	0.95
R4372:Vmn2r53	UTSW	7	12,315,656 (GRCm39)	missense	probably damaging	0.98
R4615:Vmn2r53	UTSW	7	12,316,229 (GRCm39)	missense	probably damaging	1.00
R4655:Vmn2r53	UTSW	7	12,315,932 (GRCm39)	missense	possibly damaging	0.83
R4663:Vmn2r53	UTSW	7	12,334,901 (GRCm39)	missense	probably benign	0.21
R4708:Vmn2r53	UTSW	7	12,335,129 (GRCm39)	missense	probably benign
R4710:Vmn2r53	UTSW	7	12,335,129 (GRCm39)	missense	probably benign
R4774:Vmn2r53	UTSW	7	12,334,692 (GRCm39)	nonsense	probably null
R4859:Vmn2r53	UTSW	7	12,335,330 (GRCm39)	missense	probably damaging	1.00
R5061:Vmn2r53	UTSW	7	12,315,741 (GRCm39)	missense	probably benign	0.01
R5561:Vmn2r53	UTSW	7	12,335,347 (GRCm39)	missense	probably damaging	1.00
R5729:Vmn2r53	UTSW	7	12,334,733 (GRCm39)	missense	probably damaging	1.00
R6004:Vmn2r53	UTSW	7	12,316,328 (GRCm39)	missense	probably benign	0.12
R6083:Vmn2r53	UTSW	7	12,315,808 (GRCm39)	missense	probably benign
R6312:Vmn2r53	UTSW	7	12,332,566 (GRCm39)	critical splice acceptor site	probably null
R6700:Vmn2r53	UTSW	7	12,315,633 (GRCm39)	missense	probably damaging	0.96
R6783:Vmn2r53	UTSW	7	12,335,360 (GRCm39)	missense	probably damaging	1.00
R6852:Vmn2r53	UTSW	7	12,340,441 (GRCm39)	missense	probably damaging	0.99
R6889:Vmn2r53	UTSW	7	12,335,069 (GRCm39)	missense	probably benign	0.10
R6940:Vmn2r53	UTSW	7	12,316,343 (GRCm39)	missense	probably benign	0.19
R7100:Vmn2r53	UTSW	7	12,315,513 (GRCm39)	nonsense	probably null
R7174:Vmn2r53	UTSW	7	12,315,628 (GRCm39)	missense	probably benign	0.01
R7213:Vmn2r53	UTSW	7	12,334,983 (GRCm39)	missense	probably benign	0.17
R7276:Vmn2r53	UTSW	7	12,340,359 (GRCm39)	missense	probably damaging	0.99
R7515:Vmn2r53	UTSW	7	12,315,846 (GRCm39)	missense	probably benign	0.05
R7678:Vmn2r53	UTSW	7	12,332,425 (GRCm39)	missense	probably benign	0.04
R7714:Vmn2r53	UTSW	7	12,340,418 (GRCm39)	missense	probably damaging	1.00
R7843:Vmn2r53	UTSW	7	12,316,026 (GRCm39)	missense	probably damaging	1.00
R8208:Vmn2r53	UTSW	7	12,335,322 (GRCm39)	missense	probably damaging	1.00
R8211:Vmn2r53	UTSW	7	12,315,843 (GRCm39)	missense	probably benign	0.01
R8478:Vmn2r53	UTSW	7	12,340,281 (GRCm39)	missense	probably benign	0.01
R8853:Vmn2r53	UTSW	7	12,315,737 (GRCm39)	missense	probably damaging	1.00
R8924:Vmn2r53	UTSW	7	12,334,752 (GRCm39)	missense	probably benign	0.17
R8963:Vmn2r53	UTSW	7	12,315,926 (GRCm39)	missense	probably damaging	1.00
R9042:Vmn2r53	UTSW	7	12,315,435 (GRCm39)	missense	probably benign
R9076:Vmn2r53	UTSW	7	12,340,231 (GRCm39)	missense	probably damaging	1.00
R9407:Vmn2r53	UTSW	7	12,335,124 (GRCm39)	missense	probably damaging	0.99
R9690:Vmn2r53	UTSW	7	12,315,912 (GRCm39)	missense	probably damaging	1.00
Z1176:Vmn2r53	UTSW	7	12,335,231 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCCTACCTAAGTCCACAGGAAAGC -3'
(R):5'- GGAGTCCACTGAGGAATTGATCCATTG -3'

Sequencing Primer
(F):5'- tcctgtgaaactctaagtaagcc -3'
(R):5'- GATCCATTGATTAGGACAGATGC -3'

Posted On

2014-02-11