Mutagenetix > Incidental Mutation

Incidental Mutation 'R1349:Vmn1r11'

156596

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r11

Ensembl Gene

ENSMUSG00000115236

Gene Name

vomeronasal 1 receptor 11

Synonyms

V1rc3

MMRRC Submission

039414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57114338-57115237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57114963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 209 (C209Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071304] [ENSMUST00000176954] [ENSMUST00000226968] [ENSMUST00000228235]

AlphaFold

Q3SXA2

Predicted Effect

probably benign
Transcript: ENSMUST00000071304
AA Change: C209Y

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071272
Gene: ENSMUSG00000115236
AA Change: C209Y

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	4.5e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176954
AA Change: C209Y

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135192
Gene: ENSMUSG00000093635
AA Change: C209Y

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	9.7e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226968
AA Change: C209Y

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000228235
AA Change: C172Y

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.8%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	G	A	8: 125,587,992 (GRCm39)	T36I	possibly damaging	Het
Adcy2	T	A	13: 68,816,652 (GRCm39)	N778I	probably damaging	Het
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,467,218 (GRCm39)	M248K	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Ccdc157	A	T	11: 4,099,056 (GRCm39)	I48N	probably benign	Het
Cd209d	C	A	8: 3,928,515 (GRCm39)		probably benign	Het
Cecr2	G	A	6: 120,734,564 (GRCm39)	G613E	probably damaging	Het
Clspn	C	T	4: 126,457,770 (GRCm39)	A98V	probably benign	Het
Cntnap5b	G	A	1: 100,091,813 (GRCm39)	D499N	probably benign	Het
Cox7a2	G	A	9: 79,665,819 (GRCm39)	R21*	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dbpht2	C	CNNNNNNNNNNNNNNNNNN	12: 74,345,836 (GRCm39)		noncoding transcript	Het
Dlg1	T	C	16: 31,631,638 (GRCm39)	I208T	probably damaging	Het
Dmxl1	A	T	18: 50,021,920 (GRCm39)	N1612Y	probably damaging	Het
Epha3	A	G	16: 63,431,416 (GRCm39)	I495T	possibly damaging	Het
Frem1	T	C	4: 82,840,542 (GRCm39)		probably benign	Het
Glipr1	A	G	10: 111,829,437 (GRCm39)	V108A	probably benign	Het
Gpatch2l	T	C	12: 86,307,483 (GRCm39)	L287P	possibly damaging	Het
Hp	T	G	8: 110,301,938 (GRCm39)	K337Q	probably benign	Het
Htr1a	T	A	13: 105,581,874 (GRCm39)	C371*	probably null	Het
Leo1	T	C	9: 75,356,751 (GRCm39)	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,383,472 (GRCm39)	F583L	possibly damaging	Het
Map4k4	C	A	1: 40,060,319 (GRCm39)	P1103Q	probably damaging	Het
Mybph	T	C	1: 134,121,353 (GRCm39)	S38P	probably benign	Het
Myo1e	T	G	9: 70,194,351 (GRCm39)		probably benign	Het
Nefh	T	TNNNNNNNNNNNNNNNNNN	11: 4,891,010 (GRCm39)		probably benign	Het
Oca2	T	A	7: 56,185,716 (GRCm39)	M814K	probably benign	Het
Odad3	C	T	9: 21,904,916 (GRCm39)	R290H	probably damaging	Het
Pkd1	T	C	17: 24,794,240 (GRCm39)	C1976R	probably damaging	Het
Pogz	T	A	3: 94,768,199 (GRCm39)	L126M	probably damaging	Het
Rec8	T	C	14: 55,856,431 (GRCm39)	Y68H	probably damaging	Het
Ryr3	T	A	2: 112,664,546 (GRCm39)	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,256,160 (GRCm39)	W853R	probably damaging	Het
Slc6a7	C	T	18: 61,133,615 (GRCm39)	G527D	probably benign	Het
Spopfm1	A	G	3: 94,173,435 (GRCm39)	T148A	possibly damaging	Het
Tgm1	A	G	14: 55,948,658 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,929,267 (GRCm39)	V2770A	possibly damaging	Het
Togaram1	T	A	12: 65,057,919 (GRCm39)	M1502K	probably damaging	Het
Vmn2r102	A	T	17: 19,880,887 (GRCm39)		probably benign	Het
Vmn2r12	T	C	5: 109,234,452 (GRCm39)	M587V	probably benign	Het
Vmn2r63	A	G	7: 42,578,642 (GRCm39)	F84L	possibly damaging	Het
Wdr35	A	T	12: 9,069,870 (GRCm39)		probably benign	Het
Wdr73	C	A	7: 80,543,000 (GRCm39)	V176L	probably damaging	Het

Other mutations in Vmn1r11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Vmn1r11	APN	6	57,115,022 (GRCm39)	missense	possibly damaging	0.66
IGL02141:Vmn1r11	APN	6	57,114,364 (GRCm39)	nonsense	probably null
IGL03147:Vmn1r11	UTSW	6	57,114,650 (GRCm39)	missense	probably damaging	0.98
R0908:Vmn1r11	UTSW	6	57,115,049 (GRCm39)	missense	probably damaging	1.00
R1185:Vmn1r11	UTSW	6	57,114,492 (GRCm39)	missense	possibly damaging	0.89
R1185:Vmn1r11	UTSW	6	57,114,492 (GRCm39)	missense	possibly damaging	0.89
R1185:Vmn1r11	UTSW	6	57,114,492 (GRCm39)	missense	possibly damaging	0.89
R1347:Vmn1r11	UTSW	6	57,114,963 (GRCm39)	missense	probably benign	0.23
R1347:Vmn1r11	UTSW	6	57,114,963 (GRCm39)	missense	probably benign	0.23
R1348:Vmn1r11	UTSW	6	57,114,963 (GRCm39)	missense	probably benign	0.23
R1373:Vmn1r11	UTSW	6	57,114,963 (GRCm39)	missense	probably benign	0.23
R1497:Vmn1r11	UTSW	6	57,114,394 (GRCm39)	missense	probably damaging	1.00
R2147:Vmn1r11	UTSW	6	57,114,583 (GRCm39)	missense	probably benign	0.29
R2367:Vmn1r11	UTSW	6	57,114,416 (GRCm39)	missense	probably benign	0.00
R3087:Vmn1r11	UTSW	6	57,114,691 (GRCm39)	missense	possibly damaging	0.94
R4445:Vmn1r11	UTSW	6	57,114,515 (GRCm39)	missense	probably benign	0.31
R4667:Vmn1r11	UTSW	6	57,114,483 (GRCm39)	missense	probably damaging	1.00
R4769:Vmn1r11	UTSW	6	57,114,597 (GRCm39)	missense	probably damaging	1.00
R5513:Vmn1r11	UTSW	6	57,114,617 (GRCm39)	missense	probably damaging	0.97
R5841:Vmn1r11	UTSW	6	57,114,787 (GRCm39)	missense	probably damaging	1.00
R6089:Vmn1r11	UTSW	6	57,114,645 (GRCm39)	missense	possibly damaging	0.95
R7155:Vmn1r11	UTSW	6	57,115,147 (GRCm39)	missense	probably benign	0.07
R7359:Vmn1r11	UTSW	6	57,115,184 (GRCm39)	missense	probably damaging	1.00
R8846:Vmn1r11	UTSW	6	57,114,807 (GRCm39)	missense	probably benign	0.19
R9222:Vmn1r11	UTSW	6	57,114,992 (GRCm39)	missense	possibly damaging	0.94
R9300:Vmn1r11	UTSW	6	57,114,872 (GRCm39)	missense	probably benign	0.00
R9517:Vmn1r11	UTSW	6	57,114,555 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCCAATACCTCGCTGTTGGCAAA -3'
(R):5'- GTCAGGATGACTGGGTCATACATCCAT -3'

Sequencing Primer
(F):5'- GTGCTTATACCAATGTGAGTGAGAC -3'
(R):5'- TGGGTCATACATCCATAACAGG -3'

Posted On

2014-02-11