Mutagenetix > Incidental Mutation

Incidental Mutation 'R5972:Vmn2r54'

471468

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

MMRRC Submission

044155-MU

Accession Numbers

Essential gene?

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

Stock #

R5972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12369874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 63 (C63Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

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

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: C63Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: C63Y

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,649,070 (GRCm39)	M305K	probably benign	Het
Accs	G	T	2: 93,669,572 (GRCm39)	H283N	probably damaging	Het
Actl6b	A	T	5: 137,564,818 (GRCm39)	H283L	possibly damaging	Het
Adgra1	T	C	7: 139,425,583 (GRCm39)	L32P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arfgef2	T	C	2: 166,733,756 (GRCm39)	I1672T	probably damaging	Het
Bambi	T	A	18: 3,512,354 (GRCm39)	V246E	probably damaging	Het
BC048679	A	G	7: 81,145,479 (GRCm39)	L29P	probably damaging	Het
Bmal2	A	G	6: 146,711,187 (GRCm39)	M64V	probably damaging	Het
Camk4	T	C	18: 33,240,979 (GRCm39)	L92P	probably damaging	Het
Ddx11	C	A	17: 66,455,085 (GRCm39)	Q655K	probably benign	Het
Ddx52	A	G	11: 83,844,051 (GRCm39)		probably null	Het
Entrep3	T	A	3: 89,093,115 (GRCm39)	V213D	probably damaging	Het
Eps8l3	T	C	3: 107,791,763 (GRCm39)		probably null	Het
Erap1	T	A	13: 74,810,423 (GRCm39)		probably null	Het
Flg	T	A	3: 93,186,849 (GRCm39)	N100K	probably benign	Het
Grip2	A	T	6: 91,784,262 (GRCm39)	V13E	probably benign	Het
Iars1	T	C	13: 49,863,108 (GRCm39)	V520A	possibly damaging	Het
Impa1	A	G	3: 10,394,064 (GRCm39)	M1T	probably null	Het
Ip6k3	T	C	17: 27,368,934 (GRCm39)	T179A	possibly damaging	Het
Krt87	T	A	15: 101,385,467 (GRCm39)	M302L	probably benign	Het
Lrp8	T	C	4: 107,726,267 (GRCm39)	Y899H	probably damaging	Het
Lrpprc	A	T	17: 85,020,250 (GRCm39)	I1145N	possibly damaging	Het
Mapk11	A	T	15: 89,028,387 (GRCm39)	D324E	probably benign	Het
Melk	C	T	4: 44,351,007 (GRCm39)	T516I	probably benign	Het
Mia2	C	T	12: 59,193,723 (GRCm39)	H130Y	probably damaging	Het
Mroh5	C	T	15: 73,662,568 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,418,829 (GRCm39)	T824A	possibly damaging	Het
Neurog1	T	C	13: 56,399,211 (GRCm39)	S179G	probably damaging	Het
Ntrk2	T	A	13: 58,985,633 (GRCm39)	L79Q	probably damaging	Het
Patj	T	A	4: 98,457,290 (GRCm39)	M46K	probably damaging	Het
Pdcd6ip	T	C	9: 113,491,366 (GRCm39)	K626E	probably benign	Het
Pdss2	T	A	10: 43,174,922 (GRCm39)	Y143N	probably damaging	Het
Pkhd1l1	G	A	15: 44,408,812 (GRCm39)	S2433N	probably damaging	Het
Plekha5	A	G	6: 140,518,639 (GRCm39)	T309A	possibly damaging	Het
Prdm4	C	T	10: 85,743,365 (GRCm39)	V297M	probably damaging	Het
Rab15	T	C	12: 76,847,377 (GRCm39)	Y148C	probably damaging	Het
Ryr3	A	T	2: 112,664,409 (GRCm39)	N1627K	probably damaging	Het
Scn1a	G	T	2: 66,181,454 (GRCm39)	A23E	possibly damaging	Het
Smtn	A	T	11: 3,483,486 (GRCm39)	I30N	probably damaging	Het
Sympk	A	G	7: 18,780,749 (GRCm39)	K751E	probably benign	Het
Usp24	C	T	4: 106,225,264 (GRCm39)	P632L	probably damaging	Het
Vmn2r106	A	G	17: 20,498,738 (GRCm39)	I391T	probably benign	Het
Zfhx3	T	G	8: 109,677,483 (GRCm39)	C2844W	possibly damaging	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
R2430:Vmn2r54	UTSW	7	12,365,933 (GRCm39)	missense	probably damaging	0.99
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	12,349,279 (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'- TTCAGGGAAGCTGTCTCCTC -3'
(R):5'- GATAAATGTGGGCTTCTCTTTCC -3'

Sequencing Primer
(F):5'- ACCTGGGGAAACTTGTAC -3'
(R):5'- TCAGTGCCTCCATGTGGG -3'

Posted On

2017-03-31