Mutagenetix > Incidental Mutation

Incidental Mutation 'R2397:Vmn2r54'

248551

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

MMRRC Submission

040364-MU

Accession Numbers

Essential gene?

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

Stock #

R2397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12349578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 668 (Q668P)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

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

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: Q668P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: Q668P

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: 99.0%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Adamtsl1	C	T	4: 86,117,594 (GRCm39)	R186W	probably damaging	Het
Agtpbp1	C	T	13: 59,622,383 (GRCm39)	V948I	probably benign	Het
Atp13a2	A	G	4: 140,730,466 (GRCm39)	T787A	probably benign	Het
Capn11	T	A	17: 45,964,147 (GRCm39)	N139I	probably damaging	Het
Cars1	T	C	7: 143,146,244 (GRCm39)	D60G	possibly damaging	Het
Cers1	A	T	8: 70,774,186 (GRCm39)	I148F	probably benign	Het
Col14a1	T	C	15: 55,201,835 (GRCm39)	I41T	unknown	Het
Cyp2d26	C	T	15: 82,678,236 (GRCm39)	G47R	probably damaging	Het
Dhx36	A	T	3: 62,405,518 (GRCm39)	M205K	probably benign	Het
Dyrk2	T	A	10: 118,697,273 (GRCm39)		probably benign	Het
Echs1	T	C	7: 139,692,390 (GRCm39)	H119R	possibly damaging	Het
Ehf	T	A	2: 103,107,164 (GRCm39)	D120V	probably damaging	Het
Esrra	A	G	19: 6,897,544 (GRCm39)	L71P	probably damaging	Het
Fam228a	A	T	12: 4,768,718 (GRCm39)	S200R	probably benign	Het
Fibcd1	A	T	2: 31,724,435 (GRCm39)	M191K	probably benign	Het
Foxn4	A	G	5: 114,393,556 (GRCm39)	L521P	probably damaging	Het
Fscn2	T	C	11: 120,252,995 (GRCm39)	L154P	probably damaging	Het
Gm7964	T	G	7: 83,406,321 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,353,743 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,537,717 (GRCm39)	L197P	probably damaging	Het
Heg1	T	A	16: 33,562,849 (GRCm39)	M913K	probably damaging	Het
Ifi205	T	C	1: 173,845,141 (GRCm39)	T214A	possibly damaging	Het
Ift140	T	G	17: 25,239,710 (GRCm39)	D122E	probably damaging	Het
Jakmip1	T	A	5: 37,258,087 (GRCm39)	D244E	probably damaging	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Mc2r	T	A	18: 68,541,224 (GRCm39)	D23V	probably benign	Het
Ncr1	T	A	7: 4,341,260 (GRCm39)	F47I	probably benign	Het
Nr1h3	G	A	2: 91,022,202 (GRCm39)	T142I	possibly damaging	Het
Obox2	C	T	7: 15,130,971 (GRCm39)	P68S	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Parn	A	G	16: 13,384,518 (GRCm39)	V515A	probably benign	Het
Ptdss2	T	A	7: 140,727,005 (GRCm39)	F105I	probably benign	Het
Ruvbl1	A	C	6: 88,442,534 (GRCm39)	T9P	possibly damaging	Het
Slc15a3	A	G	19: 10,820,407 (GRCm39)	E8G	probably benign	Het
Slf1	G	T	13: 77,251,702 (GRCm39)	Y303*	probably null	Het
Socs5	T	C	17: 87,442,377 (GRCm39)	F439S	probably damaging	Het
Tcp10c	C	A	17: 13,590,473 (GRCm39)	A357E	probably damaging	Het
Tmem200c	T	C	17: 69,147,942 (GRCm39)	V175A	probably damaging	Het
Vmn2r124	T	A	17: 18,269,859 (GRCm39)	H38Q	possibly damaging	Het
Xrcc2	T	C	5: 25,910,708 (GRCm39)	S3G	probably null	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
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	12,369,874 (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'- GAAGGCTGTCCAGACACTACAG -3'
(R):5'- GGTATTCACAGTGGCTGTCTCC -3'

Sequencing Primer
(F):5'- GCTGTCCAGACACTACAGAAGAG -3'
(R):5'- GTTCTGGCCAAGACTCTCACAGTAG -3'

Posted On

2014-11-11