Mutagenetix > Incidental Mutation

Incidental Mutation 'R0990:Vmn2r53'

97618

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r53

Ensembl Gene

ENSMUSG00000096002

Gene Name

vomeronasal 2, receptor 53

Synonyms

EG637908

MMRRC Submission

039110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12315397-12342583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12315429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 797 (S797P)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

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

AlphaFold

A0A3B2W4A7

Predicted Effect

probably benign
Transcript: ENSMUST00000170412
AA Change: S797P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: S797P

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: 98.8%
3x: 97.6%
10x: 94.1%
20x: 86.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,052,080 (GRCm39)	V916A	possibly damaging	Het
Ank2	T	C	3: 126,728,315 (GRCm39)	I759M	possibly damaging	Het
Arhgap32	A	G	9: 32,166,677 (GRCm39)	D438G	probably damaging	Het
Arhgef12	T	C	9: 42,883,677 (GRCm39)	Y1285C	probably benign	Het
Cfap65	A	G	1: 74,960,678 (GRCm39)	V764A	possibly damaging	Het
Cog8	T	A	8: 107,779,119 (GRCm39)		probably null	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxo24	T	C	5: 137,616,701 (GRCm39)	N394S	probably damaging	Het
Gm9938	A	G	19: 23,701,956 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,050,824 (GRCm39)	F422L	probably damaging	Het
Marchf3	A	T	18: 56,940,870 (GRCm39)	C87S	probably damaging	Het
Mettl2	T	A	11: 105,028,570 (GRCm39)	Y307*	probably null	Het
Mlh3	T	C	12: 85,314,539 (GRCm39)	D549G	probably benign	Het
Muc4	A	G	16: 32,752,722 (GRCm38)	T867A	probably benign	Het
Nup210l	A	T	3: 90,119,232 (GRCm39)	T1852S	probably benign	Het
Or5aq1	T	A	2: 86,966,086 (GRCm39)	H193L	possibly damaging	Het
Pdk4	A	T	6: 5,485,577 (GRCm39)	S371T	probably benign	Het
Pkm	A	G	9: 59,585,379 (GRCm39)	T454A	probably damaging	Het
Satb2	G	A	1: 56,889,343 (GRCm39)	S340F	probably damaging	Het
Scel	G	A	14: 103,819,268 (GRCm39)	V354I	possibly damaging	Het
Setdb1	T	C	3: 95,247,576 (GRCm39)	T440A	probably benign	Het
Sgk1	T	C	10: 21,872,985 (GRCm39)	F230S	probably damaging	Het
Slc22a23	A	T	13: 34,379,450 (GRCm39)	I439N	probably damaging	Het
Slc9a5	G	A	8: 106,086,078 (GRCm39)	R615Q	probably damaging	Het
Smad1	T	A	8: 80,070,417 (GRCm39)	I374F	probably damaging	Het
Tgm4	A	G	9: 122,875,576 (GRCm39)	E143G	probably benign	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
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
R1343:Vmn2r53	UTSW	7	12,318,701 (GRCm39)	missense	probably benign	0.08
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'- GCCTGTCAATTTCCCACATGCTCAG -3'
(R):5'- GAGACCAAGTTCCTCACCTTCAGC -3'

Sequencing Primer
(F):5'- gcaagcatttttacccattcag -3'
(R):5'- CCTGTACCATAGTGCCCG -3'

Posted On

2014-01-05