Mutagenetix > Incidental Mutation

Incidental Mutation 'R2394:Vmn2r57'

247910

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r57

Ensembl Gene

ENSMUSG00000066537

Gene Name

vomeronasal 2, receptor 57

Synonyms

EG269902

MMRRC Submission

040362-MU

Accession Numbers

Essential gene?

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

Stock #

R2394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41049156-41098065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41049619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 710 (I710T)

Ref Sequence

ENSEMBL: ENSMUSP00000125817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000165029]

AlphaFold

L7N269

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165029
AA Change: I710T

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: I710T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	77	471	1.4e-44	PFAM
Pfam:NCD3G	514	567	2.7e-23	PFAM
Pfam:7tm_3	600	835	1.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170929

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	A	T	7: 29,980,053 (GRCm39)		probably benign	Het
Abca17	T	C	17: 24,500,190 (GRCm39)		probably null	Het
Atxn7	T	C	14: 14,100,237 (GRCm38)	V641A	probably damaging	Het
C3	G	A	17: 57,529,303 (GRCm39)	Q30*	probably null	Het
Ccdc162	A	G	10: 41,445,894 (GRCm39)	I426T	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cwc27	A	C	13: 104,932,942 (GRCm39)	D253E	probably benign	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dmbt1	T	A	7: 130,696,464 (GRCm39)	Y892*	probably null	Het
Dnhd1	T	A	7: 105,369,438 (GRCm39)	Y4354N	probably benign	Het
Dync2li1	T	A	17: 84,952,175 (GRCm39)	I202K	possibly damaging	Het
Dyrk1a	T	A	16: 94,485,991 (GRCm39)	V446E	probably benign	Het
Efcab3	C	A	11: 104,629,121 (GRCm39)	T933K	probably benign	Het
Fam186b	T	C	15: 99,178,058 (GRCm39)	I423V	probably benign	Het
Gm5108	T	C	5: 68,132,475 (GRCm39)		probably benign	Het
Htr3a	A	G	9: 48,817,643 (GRCm39)	V110A	probably benign	Het
Itsn2	C	A	12: 4,757,005 (GRCm39)	S1365Y	possibly damaging	Het
Lrrc46	T	C	11: 96,929,657 (GRCm39)	I60V	probably damaging	Het
Mtrex	A	T	13: 113,019,702 (GRCm39)	Y803N	probably benign	Het
Nlrp14	T	C	7: 106,797,031 (GRCm39)	V307A	probably benign	Het
Nt5c2	A	G	19: 46,878,506 (GRCm39)		probably null	Het
Obox2	C	T	7: 15,130,935 (GRCm39)	P56S	possibly damaging	Het
Olfml2b	A	G	1: 170,477,319 (GRCm39)	I151M	possibly damaging	Het
Oog3	T	A	4: 143,885,884 (GRCm39)	D238V	probably benign	Het
Pde11a	T	C	2: 75,889,405 (GRCm39)	T690A	probably benign	Het
Ppa1	A	G	10: 61,508,163 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,655,351 (GRCm39)	E306G	probably damaging	Het
Ppic	G	A	18: 53,544,119 (GRCm39)	R89C	probably damaging	Het
Ptprk	T	G	10: 28,427,713 (GRCm39)	I764S	probably damaging	Het
Ripk2	T	C	4: 16,132,774 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,940,735 (GRCm39)	M702T	probably benign	Het
Slco1b2	T	C	6: 141,615,100 (GRCm39)	I335T	probably damaging	Het
Ssbp1	T	A	6: 40,453,743 (GRCm39)	D96E	probably benign	Het
Tpp2	T	A	1: 44,022,346 (GRCm39)	S915T	possibly damaging	Het
Unc5c	A	T	3: 141,383,892 (GRCm39)	Q90L	probably damaging	Het
Wdr90	G	A	17: 26,070,429 (GRCm39)	P1104L	probably damaging	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41,078,209 (GRCm39)	missense	probably benign
IGL01108:Vmn2r57	APN	7	41,077,008 (GRCm39)	missense	probably benign	0.01
IGL01112:Vmn2r57	APN	7	41,074,467 (GRCm39)	missense	probably damaging	1.00
IGL01516:Vmn2r57	APN	7	41,049,370 (GRCm39)	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41,049,619 (GRCm39)	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41,049,874 (GRCm39)	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41,077,650 (GRCm39)	missense	probably benign
IGL02801:Vmn2r57	APN	7	41,098,056 (GRCm39)	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41,077,498 (GRCm39)	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41,049,165 (GRCm39)	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41,050,076 (GRCm39)	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41,049,157 (GRCm39)	splice site	probably null
R0305:Vmn2r57	UTSW	7	41,076,967 (GRCm39)	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41,077,216 (GRCm39)	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41,077,216 (GRCm39)	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41,078,225 (GRCm39)	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41,077,228 (GRCm39)	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41,077,635 (GRCm39)	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41,077,254 (GRCm39)	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41,049,548 (GRCm39)	missense	probably benign	0.38
R1764:Vmn2r57	UTSW	7	41,050,067 (GRCm39)	missense	probably damaging	1.00
R1848:Vmn2r57	UTSW	7	41,077,531 (GRCm39)	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41,098,001 (GRCm39)	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41,078,249 (GRCm39)	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41,077,498 (GRCm39)	missense	probably benign	0.00
R3937:Vmn2r57	UTSW	7	41,077,554 (GRCm39)	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41,077,663 (GRCm39)	missense	probably benign
R4423:Vmn2r57	UTSW	7	41,076,064 (GRCm39)	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41,049,892 (GRCm39)	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41,049,919 (GRCm39)	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41,078,086 (GRCm39)	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41,075,974 (GRCm39)	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41,049,664 (GRCm39)	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41,077,363 (GRCm39)	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41,049,398 (GRCm39)	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41,097,895 (GRCm39)	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41,097,896 (GRCm39)	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41,078,114 (GRCm39)	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41,049,284 (GRCm39)	missense	probably benign
R6381:Vmn2r57	UTSW	7	41,078,242 (GRCm39)	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41,078,089 (GRCm39)	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41,049,218 (GRCm39)	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41,097,895 (GRCm39)	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41,049,710 (GRCm39)	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41,076,148 (GRCm39)	missense	probably benign	0.01
R7633:Vmn2r57	UTSW	7	41,074,513 (GRCm39)	missense	possibly damaging	0.76
R7811:Vmn2r57	UTSW	7	41,074,439 (GRCm39)	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41,076,183 (GRCm39)	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41,049,677 (GRCm39)	missense	probably benign	0.01
R8345:Vmn2r57	UTSW	7	41,076,968 (GRCm39)	missense	possibly damaging	0.81
R8360:Vmn2r57	UTSW	7	41,049,640 (GRCm39)	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41,077,020 (GRCm39)	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41,078,163 (GRCm39)	missense	probably damaging	1.00
R8955:Vmn2r57	UTSW	7	41,049,571 (GRCm39)	missense	possibly damaging	0.64
R8985:Vmn2r57	UTSW	7	41,049,259 (GRCm39)	missense	probably benign
R9108:Vmn2r57	UTSW	7	41,078,192 (GRCm39)	missense	possibly damaging	0.87
R9160:Vmn2r57	UTSW	7	41,076,159 (GRCm39)	missense	possibly damaging	0.48
R9354:Vmn2r57	UTSW	7	41,049,663 (GRCm39)	missense	probably benign	0.01
R9566:Vmn2r57	UTSW	7	41,077,089 (GRCm39)	missense	probably benign	0.32
R9633:Vmn2r57	UTSW	7	41,076,006 (GRCm39)	missense	probably benign	0.00
X0026:Vmn2r57	UTSW	7	41,077,985 (GRCm39)	missense	possibly damaging	0.91
X0026:Vmn2r57	UTSW	7	41,077,549 (GRCm39)	missense	probably benign	0.03
X0065:Vmn2r57	UTSW	7	41,077,395 (GRCm39)	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41,049,922 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGATTCCTGGATAAGAAGGC -3'
(R):5'- TGCTTGCTCTACATTGGACAGC -3'

Sequencing Primer
(F):5'- CCATGGTATAGCTCCCAAGTG -3'
(R):5'- ACAGCCACCTGCATCTTG -3'

Posted On

2014-11-11