Mutagenetix > Incidental Mutation

Incidental Mutation 'R9534:Vmn2r54'

719609

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9534 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12366093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 280 (K280N)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

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

AlphaFold

A0A3B2W422

Predicted Effect

probably benign
Transcript: ENSMUST00000086210
AA Change: K280N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: K280N

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	A	19: 4,913,477 (GRCm39)	Q651H	probably benign	Het
Ahnak	G	T	19: 8,980,976 (GRCm39)	M753I	probably benign	Het
Ap1ar	T	C	3: 127,602,364 (GRCm39)	T225A	probably damaging	Het
Asic1	T	G	15: 99,594,397 (GRCm39)	I281S	probably benign	Het
Bard1	C	T	1: 71,114,189 (GRCm39)	C264Y	probably benign	Het
Bltp1	A	G	3: 37,052,419 (GRCm39)	T3040A	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cacna1e	T	C	1: 154,320,693 (GRCm39)	H1354R	possibly damaging	Het
Cc2d2b	G	T	19: 40,799,068 (GRCm39)	E860*	probably null	Het
Cenpn	T	A	8: 117,661,474 (GRCm39)	L191*	probably null	Het
Cep68	T	C	11: 20,190,686 (GRCm39)	R109G	probably benign	Het
Col9a1	T	A	1: 24,224,250 (GRCm39)	V144E	unknown	Het
Coro2a	T	C	4: 46,548,884 (GRCm39)	T137A	probably benign	Het
Ecpas	A	G	4: 58,807,867 (GRCm39)	V1667A	probably benign	Het
Eml6	T	C	11: 29,734,155 (GRCm39)	D1195G	possibly damaging	Het
Hspg2	G	A	4: 137,268,072 (GRCm39)	V2130I	probably benign	Het
Ifi214	A	T	1: 173,354,092 (GRCm39)	S193T	probably benign	Het
Iqsec3	C	A	6: 121,367,077 (GRCm39)	V724L	possibly damaging	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Mis18bp1	A	T	12: 65,205,234 (GRCm39)	S313T	possibly damaging	Het
Or1f19	A	T	16: 3,410,937 (GRCm39)	I226F	probably benign	Het
Or4a68	A	C	2: 89,269,999 (GRCm39)	V208G	probably benign	Het
Or5b104	T	C	19: 13,072,121 (GRCm39)	E124G	probably damaging	Het
Pcdh9	C	T	14: 94,123,656 (GRCm39)	C838Y	probably damaging	Het
Pdcd11	A	G	19: 47,108,718 (GRCm39)	M1245V	probably benign	Het
Ppp3r1	A	G	11: 17,132,123 (GRCm39)	Y7C	probably benign	Het
Rdx	C	T	9: 51,984,482 (GRCm39)	R330*	probably null	Het
Scaf11	T	G	15: 96,318,209 (GRCm39)	N452H	possibly damaging	Het
Scube1	A	G	15: 83,606,102 (GRCm39)	Y57H	probably damaging	Het
Slc35d3	T	C	10: 19,725,116 (GRCm39)	T247A	probably damaging	Het
Slfn5	A	T	11: 82,849,523 (GRCm39)	M341L	probably benign	Het
Smc2	T	A	4: 52,462,870 (GRCm39)	M620K	probably damaging	Het
Smg5	T	A	3: 88,252,759 (GRCm39)	S182T	probably benign	Het
Tdrd6	G	T	17: 43,936,510 (GRCm39)	L1513I	probably benign	Het
Tet2	A	T	3: 133,173,689 (GRCm39)	Y1524*	probably null	Het
Tex15	A	G	8: 34,060,999 (GRCm39)	N143S	probably benign	Het
Urb1	A	G	16: 90,583,096 (GRCm39)	I591T	possibly damaging	Het
Usp21	A	G	1: 171,110,942 (GRCm39)	S435P	probably benign	Het
Usp24	T	C	4: 106,264,312 (GRCm39)	Y1748H	probably damaging	Het
Zan	G	T	5: 137,407,945 (GRCm39)	C3616*	probably null	Het
Zfp804b	T	C	5: 6,819,115 (GRCm39)	D1316G	probably 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	12,369,874 (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
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'- ATATTGTGCAGAGCATGGGC -3'
(R):5'- CAGCTCATCCTACGTGGTTTAC -3'

Sequencing Primer
(F):5'- CATGGGCAATGCTGTAGACAG -3'
(R):5'- CTCAGGACAGGTGTGGGTCAG -3'

Posted On

2022-07-18