Mutagenetix > Incidental Mutation

Incidental Mutation 'R5978:Vmn1r14'

481249

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r14

Ensembl Gene

ENSMUSG00000114982

Gene Name

vomeronasal 1 receptor 14

Synonyms

V1rc7

MMRRC Submission

044160-MU

Accession Numbers

Essential gene?

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

Stock #

R5978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57203140-57211335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57210929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 169 (S169F)

Ref Sequence

ENSEMBL: ENSMUSP00000154520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176376] [ENSMUST00000177435] [ENSMUST00000227209] [ENSMUST00000227574] [ENSMUST00000227768] [ENSMUST00000227884]

AlphaFold

H3BJ46

Predicted Effect

probably benign
Transcript: ENSMUST00000176376
AA Change: S169F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134841
Gene: ENSMUSG00000093692
AA Change: S169F

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:V1R	35	303	2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177435
AA Change: S169F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135207
Gene: ENSMUSG00000114982
AA Change: S169F

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	3.9e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227209
AA Change: S125F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227574
AA Change: S125F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227768
AA Change: S169F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000227884
AA Change: S169F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks6	T	A	4: 47,049,252 (GRCm39)	S218C	probably damaging	Het
Atp2c2	G	A	8: 120,476,614 (GRCm39)		probably null	Het
Ccdc146	T	G	5: 21,521,966 (GRCm39)	I353L	probably benign	Het
Cst3	A	T	2: 148,714,741 (GRCm39)	M112K	probably benign	Het
Cst3	T	G	2: 148,714,742 (GRCm39)	M112L	probably benign	Het
Cyp2j11	A	C	4: 96,207,589 (GRCm39)	L242R	probably damaging	Het
Eif5b	T	C	1: 38,037,361 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,224,209 (GRCm39)	I1253M	possibly damaging	Het
Fstl5	C	T	3: 76,052,392 (GRCm39)	H41Y	probably damaging	Het
Gm11011	T	C	2: 169,426,361 (GRCm39)	K84R	unknown	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Heatr5b	C	A	17: 79,113,465 (GRCm39)	V923F	probably damaging	Het
Hnrnpll	G	A	17: 80,341,620 (GRCm39)	T473M	probably damaging	Het
Iars1	T	A	13: 49,876,469 (GRCm39)	Y845N	probably damaging	Het
Il34	T	A	8: 111,469,317 (GRCm39)	D166V	probably damaging	Het
Kel	T	A	6: 41,664,979 (GRCm39)	H595L	probably benign	Het
Krt77	T	C	15: 101,771,363 (GRCm39)	I313M	probably benign	Het
Krt84	T	C	15: 101,438,665 (GRCm39)	E274G	probably damaging	Het
Mctp2	T	C	7: 71,739,936 (GRCm39)	Y818C	probably damaging	Het
Mrc1	A	T	2: 14,320,204 (GRCm39)	Y1046F	probably damaging	Het
Myom1	A	T	17: 71,424,438 (GRCm39)	D1429V	probably damaging	Het
Ncapg2	T	C	12: 116,388,291 (GRCm39)	M325T	possibly damaging	Het
Nf1	T	A	11: 79,431,245 (GRCm39)	I1902N	probably damaging	Het
Nkain3	A	T	4: 20,485,026 (GRCm39)		probably null	Het
Nlrc5	A	T	8: 95,215,221 (GRCm39)	N940Y	probably damaging	Het
Nlrp9a	T	A	7: 26,256,703 (GRCm39)	I107K	probably damaging	Het
Ntn5	T	C	7: 45,343,437 (GRCm39)	S328P	possibly damaging	Het
Or1j17	A	C	2: 36,578,694 (GRCm39)	K227Q	probably benign	Het
Parp8	A	C	13: 117,032,268 (GRCm39)	S302A	probably benign	Het
Ptgr2	G	T	12: 84,342,032 (GRCm39)	E27*	probably null	Het
Rnf115	T	A	3: 96,695,982 (GRCm39)	I256N	probably damaging	Het
Ryr3	T	A	2: 112,502,614 (GRCm39)	H3515L	probably benign	Het
Scel	A	G	14: 103,766,690 (GRCm39)		probably null	Het
Slc4a5	T	A	6: 83,254,518 (GRCm39)	S572T	probably benign	Het
Slc4a9	T	G	18: 36,668,456 (GRCm39)	I705S	probably damaging	Het
Spint4	C	T	2: 164,542,252 (GRCm39)	P101L	probably damaging	Het
Syt9	T	A	7: 107,035,620 (GRCm39)	D212E	probably benign	Het
Tmem39a	T	A	16: 38,411,392 (GRCm39)	M449K	probably benign	Het
Ttn	T	C	2: 76,639,143 (GRCm39)	T13877A	possibly damaging	Het
Ube2v2	T	C	16: 15,394,991 (GRCm39)	N20S	probably benign	Het
Vps13d	T	C	4: 144,849,181 (GRCm39)	H2410R	probably benign	Het
Wdr81	G	A	11: 75,335,224 (GRCm39)	L1781F	probably damaging	Het
Zfp91	A	G	19: 12,747,515 (GRCm39)	I536T	probably benign	Het

Other mutations in Vmn1r14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1083:Vmn1r14	UTSW	6	57,211,184 (GRCm39)	missense	probably damaging	1.00
R1533:Vmn1r14	UTSW	6	57,211,286 (GRCm39)	missense	probably damaging	1.00
R1759:Vmn1r14	UTSW	6	57,211,297 (GRCm39)	missense	probably benign	0.00
R3945:Vmn1r14	UTSW	6	57,211,254 (GRCm39)	missense	probably benign	0.13
R4034:Vmn1r14	UTSW	6	57,211,310 (GRCm39)	missense	possibly damaging	0.63
R4273:Vmn1r14	UTSW	6	57,211,133 (GRCm39)	missense	probably damaging	1.00
R4342:Vmn1r14	UTSW	6	57,210,808 (GRCm39)	missense	probably benign	0.09
R4451:Vmn1r14	UTSW	6	57,211,213 (GRCm39)	missense	possibly damaging	0.86
R6378:Vmn1r14	UTSW	6	57,210,587 (GRCm39)	missense	probably benign	0.09
R6829:Vmn1r14	UTSW	6	57,210,536 (GRCm39)	missense	probably benign	0.06
R7153:Vmn1r14	UTSW	6	57,210,851 (GRCm39)	missense	probably benign	0.10
R8015:Vmn1r14	UTSW	6	57,211,015 (GRCm39)	missense	probably damaging	0.96
R8105:Vmn1r14	UTSW	6	57,211,245 (GRCm39)	missense	probably benign	0.00
R8830:Vmn1r14	UTSW	6	57,211,017 (GRCm39)	missense	probably damaging	0.98
R8831:Vmn1r14	UTSW	6	57,210,505 (GRCm39)	missense	probably benign	0.05
Z1177:Vmn1r14	UTSW	6	57,211,126 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGCTGTCATGATCAGTCATAGG -3'
(R):5'- CTACCAGGAGCAAGATGGTCTG -3'

Sequencing Primer
(F):5'- GCTGTCATGATCAGTCATAGGAACTC -3'
(R):5'- AAGATGGTCTGAGTGGCCC -3'

Posted On

2017-06-26