Mutagenetix > Incidental Mutation

Incidental Mutation 'R2101:Vmn1r23'

230496

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r23

Ensembl Gene

ENSMUSG00000093376

Gene Name

vomeronasal 1 receptor 23

Synonyms

V1rc24

MMRRC Submission

040105-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57925842-57926838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57926452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 114 (K114E)

Ref Sequence

ENSEMBL: ENSMUSP00000135676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175817]

AlphaFold

Q8R2D0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175817
AA Change: K114E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135676
Gene: ENSMUSG00000093376
AA Change: K114E

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	3.1e-57	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,566,862 (GRCm38)	A46T	probably benign	Het
Agap3	T	A	5: 24,487,799 (GRCm38)	L47Q	probably damaging	Het
Apaf1	T	G	10: 91,060,080 (GRCm38)	I377L	probably benign	Het
Astn2	G	A	4: 65,581,686 (GRCm38)	R937*	probably null	Het
Cacnb1	A	C	11: 98,005,728 (GRCm38)	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 180,146,968 (GRCm38)	V1464L	probably benign	Het
Cdkn2aip	A	T	8: 47,713,001 (GRCm38)	M90K	probably damaging	Het
Chd3	A	T	11: 69,349,051 (GRCm38)	D1650E	probably benign	Het
Chd9	C	T	8: 91,033,987 (GRCm38)	P2120L	probably benign	Het
Clca2	T	C	3: 145,077,938 (GRCm38)	T639A	probably damaging	Het
Cluh	G	T	11: 74,660,502 (GRCm38)		probably benign	Het
Cnga1	C	T	5: 72,619,061 (GRCm38)	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,052,169 (GRCm38)	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,242,443 (GRCm38)	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 104,148,830 (GRCm38)	V2084A	probably damaging	Het
Dcc	G	A	18: 71,810,870 (GRCm38)	H237Y	possibly damaging	Het
Ddx60	T	A	8: 61,940,645 (GRCm38)	F38L	probably damaging	Het
Dio2	T	C	12: 90,729,823 (GRCm38)	*130W	probably null	Het
Dock5	G	T	14: 67,794,010 (GRCm38)	F990L	probably benign	Het
Dpy19l1	A	T	9: 24,482,035 (GRCm38)	V146E	probably damaging	Het
Dscam	T	C	16: 96,610,349 (GRCm38)	T1776A	probably benign	Het
Enpep	C	T	3: 129,298,938 (GRCm38)	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025 (GRCm38)	D369G	probably damaging	Het
Gm6169	G	T	13: 97,099,222 (GRCm38)	R6S	probably damaging	Het
Gtf2b	T	C	3: 142,771,383 (GRCm38)		probably benign	Het
Hmbox1	A	G	14: 64,828,579 (GRCm38)		probably benign	Het
Hps3	C	A	3: 20,012,783 (GRCm38)	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,806,237 (GRCm38)	I249F	possibly damaging	Het
Hunk	T	A	16: 90,432,500 (GRCm38)		probably null	Het
Kidins220	T	A	12: 25,057,423 (GRCm38)	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,846,187 (GRCm38)	G543S	unknown	Het
Myo10	T	A	15: 25,722,259 (GRCm38)	L186Q	probably benign	Het
N4bp2	T	A	5: 65,790,881 (GRCm38)	W285R	probably damaging	Het
Nat8l	T	C	5: 33,998,372 (GRCm38)	L124P	probably damaging	Het
Nemp2	T	C	1: 52,641,066 (GRCm38)		probably null	Het
Nkain2	G	A	10: 32,329,817 (GRCm38)	T74I	possibly damaging	Het
Nol4	A	G	18: 22,823,409 (GRCm38)	S239P	probably damaging	Het
Olfr1223	T	A	2: 89,144,957 (GRCm38)	E22V	probably benign	Het
Pcbp3	T	C	10: 76,789,755 (GRCm38)	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,175,605 (GRCm38)	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,415,368 (GRCm38)	N135D	probably damaging	Het
Plb1	T	A	5: 32,349,660 (GRCm38)	M1193K	probably damaging	Het
Prc1	T	C	7: 80,312,284 (GRCm38)	V73A	probably benign	Het
Prkd2	T	A	7: 16,869,565 (GRCm38)	W807R	probably damaging	Het
Ptprb	C	T	10: 116,315,038 (GRCm38)		probably benign	Het
Rb1cc1	A	G	1: 6,249,335 (GRCm38)	I993V	probably benign	Het
Rbp3	C	T	14: 33,956,018 (GRCm38)	T641M	probably damaging	Het
Rev3l	T	C	10: 39,828,096 (GRCm38)	V2046A	probably benign	Het
Rnpep	G	T	1: 135,271,617 (GRCm38)	N334K	probably damaging	Het
Sarm1	G	A	11: 78,475,289 (GRCm38)	P695S	probably damaging	Het
Sf3a3	C	T	4: 124,718,343 (GRCm38)	T131I	possibly damaging	Het
Slc38a10	A	T	11: 120,132,741 (GRCm38)	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,072,870 (GRCm38)	L552*	probably null	Het
Tas2r136	T	C	6: 132,777,532 (GRCm38)	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,181,121 (GRCm38)	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,301,639 (GRCm38)	F167S	probably damaging	Het
Tfeb	G	A	17: 47,789,665 (GRCm38)	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,888 (GRCm38)	F153L	probably benign	Het
Txnrd1	T	G	10: 82,881,739 (GRCm38)	L186V	probably damaging	Het
Upk1b	A	T	16: 38,780,137 (GRCm38)	C160*	probably null	Het
Uty	T	C	Y: 1,176,541 (GRCm38)	Q172R	probably damaging	Het
Vmn2r99	T	G	17: 19,377,991 (GRCm38)	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,263,191 (GRCm38)	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,116,421 (GRCm38)	V547A	probably benign	Het
Zfp944	T	A	17: 22,339,828 (GRCm38)	N146I	probably benign	Het

Other mutations in Vmn1r23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Vmn1r23	APN	6	57,926,076 (GRCm38)	missense	possibly damaging	0.89
IGL01980:Vmn1r23	APN	6	57,926,490 (GRCm38)	missense	probably damaging	1.00
IGL02934:Vmn1r23	APN	6	57,925,929 (GRCm38)	missense	probably benign	0.26
IGL03153:Vmn1r23	APN	6	57,925,932 (GRCm38)	missense	probably damaging	0.98
R0410:Vmn1r23	UTSW	6	57,926,190 (GRCm38)	missense	probably benign	0.11
R0452:Vmn1r23	UTSW	6	57,926,484 (GRCm38)	missense	possibly damaging	0.90
R0590:Vmn1r23	UTSW	6	57,926,364 (GRCm38)	missense	probably benign	0.43
R0647:Vmn1r23	UTSW	6	57,926,184 (GRCm38)	missense	probably benign
R0692:Vmn1r23	UTSW	6	57,926,125 (GRCm38)	nonsense	probably null
R1674:Vmn1r23	UTSW	6	57,926,061 (GRCm38)	missense	possibly damaging	0.75
R1744:Vmn1r23	UTSW	6	57,925,925 (GRCm38)	missense	possibly damaging	0.81
R1774:Vmn1r23	UTSW	6	57,926,690 (GRCm38)	missense	probably damaging	0.97
R2202:Vmn1r23	UTSW	6	57,926,619 (GRCm38)	missense	probably benign	0.01
R2204:Vmn1r23	UTSW	6	57,926,619 (GRCm38)	missense	probably benign	0.01
R2205:Vmn1r23	UTSW	6	57,926,619 (GRCm38)	missense	probably benign	0.01
R4282:Vmn1r23	UTSW	6	57,926,467 (GRCm38)	missense	probably benign	0.27
R4408:Vmn1r23	UTSW	6	57,926,368 (GRCm38)	missense	probably benign	0.01
R4532:Vmn1r23	UTSW	6	57,925,929 (GRCm38)	missense	probably benign	0.21
R4690:Vmn1r23	UTSW	6	57,926,025 (GRCm38)	missense	probably benign
R4700:Vmn1r23	UTSW	6	57,926,205 (GRCm38)	missense	probably benign	0.17
R4894:Vmn1r23	UTSW	6	57,926,325 (GRCm38)	missense	probably benign	0.00
R6164:Vmn1r23	UTSW	6	57,926,055 (GRCm38)	missense	possibly damaging	0.90
R6930:Vmn1r23	UTSW	6	57,926,145 (GRCm38)	missense	probably benign
R7129:Vmn1r23	UTSW	6	57,926,076 (GRCm38)	missense	possibly damaging	0.89
R7731:Vmn1r23	UTSW	6	57,926,334 (GRCm38)	missense	probably benign	0.03
R7877:Vmn1r23	UTSW	6	57,926,556 (GRCm38)	missense	probably benign
R8751:Vmn1r23	UTSW	6	57,926,467 (GRCm38)	missense	probably benign	0.27
R8809:Vmn1r23	UTSW	6	57,926,367 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGTGGTCAGCATGACTCCTAC -3'
(R):5'- GCAGGAGATAATTGGTTTACAGAC -3'

Sequencing Primer
(F):5'- TGGTCAGCATGACTCCTACAAGAAAC -3'
(R):5'- GGTTTACAGACTTATTTGAGTCACTG -3'

Posted On

2014-09-18