Mutagenetix > Incidental Mutation

Incidental Mutation 'R9056:Vmn1r40'

688682

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r40

Ensembl Gene

ENSMUSG00000096051

Gene Name

vomeronasal 1 receptor 40

Synonyms

V1rb7

MMRRC Submission

068882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89688243-89692117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89691198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

Ref Sequence

ENSEMBL: ENSMUSP00000074655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075158] [ENSMUST00000226925] [ENSMUST00000227669] [ENSMUST00000228485] [ENSMUST00000228642]

AlphaFold

Q9EQ46

Predicted Effect

probably benign
Transcript: ENSMUST00000075158
AA Change: N5S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074655
Gene: ENSMUSG00000096051
AA Change: N5S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	3.4e-143	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226925
AA Change: N5S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000227669

Predicted Effect

probably benign
Transcript: ENSMUST00000228485

Predicted Effect

probably benign
Transcript: ENSMUST00000228642
AA Change: N5S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,414,921 (GRCm39)	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,432,492 (GRCm39)	N110S	probably damaging	Het
Arhgap31	T	C	16: 38,427,017 (GRCm39)	T612A	probably benign	Het
Atp13a4	C	T	16: 29,290,706 (GRCm39)		probably null	Het
C1rb	T	C	6: 124,553,984 (GRCm39)	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,784,216 (GRCm39)	I671T	unknown	Het
Cmas	A	G	6: 142,710,105 (GRCm39)	D116G	probably damaging	Het
Col24a1	T	C	3: 145,021,009 (GRCm39)	V460A	probably damaging	Het
Cracdl	G	A	1: 37,663,553 (GRCm39)	R782C	possibly damaging	Het
Cubn	T	G	2: 13,461,466 (GRCm39)	D687A	probably damaging	Het
Cul9	A	C	17: 46,854,696 (GRCm39)	V2G	probably damaging	Het
Elp3	T	C	14: 65,797,582 (GRCm39)	Y382C	probably damaging	Het
Fbxo11	A	T	17: 88,310,249 (GRCm39)	I443K		Het
Fdps	G	A	3: 89,006,639 (GRCm39)	R84W	probably benign	Het
Helz	C	T	11: 107,547,019 (GRCm39)	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,380,782 (GRCm39)	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,813,720 (GRCm39)	Y135C	probably damaging	Het
Hspa1l	A	G	17: 35,196,849 (GRCm39)	Y296C	probably benign	Het
Ifna12	T	G	4: 88,521,079 (GRCm39)	E156A	possibly damaging	Het
Ilf3	C	T	9: 21,314,434 (GRCm39)	Q689*	probably null	Het
Ints1	A	G	5: 139,760,041 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,574,290 (GRCm39)	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,944,774 (GRCm39)	K825R	probably benign	Het
Kcnma1	A	G	14: 23,700,214 (GRCm39)	I194T	possibly damaging	Het
Kmo	A	G	1: 175,465,108 (GRCm39)	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,801 (GRCm39)	G52C	unknown	Het
Ksr1	A	G	11: 78,918,465 (GRCm39)	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925 (GRCm39)	M355L	possibly damaging	Het
Med13	A	T	11: 86,189,660 (GRCm39)	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,354,900 (GRCm39)	T26A	probably benign	Het
Mup14	T	C	4: 61,259,430 (GRCm39)	I41V	probably benign	Het
Myo9b	T	A	8: 71,804,906 (GRCm39)	S1466T	probably benign	Het
Nampt	T	C	12: 32,888,458 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,317,885 (GRCm39)	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,314,314 (GRCm39)	A670V	probably benign	Het
Or10h28	A	G	17: 33,487,794 (GRCm39)	Y32C	probably damaging	Het
Or2aj6	A	G	16: 19,443,791 (GRCm39)	S20P	probably benign	Het
Or4k44	T	C	2: 111,368,488 (GRCm39)	I49V	probably benign	Het
Or4m1	T	C	14: 50,557,999 (GRCm39)	I98V	probably damaging	Het
Or8g31-ps1	T	C	9: 39,276,416 (GRCm39)	V187A	unknown	Het
Pcdh15	A	G	10: 74,221,731 (GRCm39)	D677G	probably damaging	Het
Pogz	T	A	3: 94,787,530 (GRCm39)	S1373T	probably benign	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qpctl	T	A	7: 18,880,961 (GRCm39)	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,810,677 (GRCm39)	F60L	possibly damaging	Het
Ripor1	T	A	8: 106,344,072 (GRCm39)	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,304,412 (GRCm39)	H582Y	probably benign	Het
Rusc1	T	A	3: 88,996,990 (GRCm39)	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,610,817 (GRCm39)	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,422,294 (GRCm39)	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494 (GRCm39)	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,220,905 (GRCm39)	C479S	probably benign	Het
Spata31h1	T	C	10: 82,127,101 (GRCm39)	T1970A	probably benign	Het
Sspo	G	T	6: 48,450,608 (GRCm39)	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,627,604 (GRCm39)	E116V	probably null	Het
Tmem260	T	A	14: 48,717,774 (GRCm39)	V121E	probably benign	Het
Tmem54	T	C	4: 129,002,120 (GRCm39)	F45L	probably benign	Het
Trim2	T	A	3: 84,080,128 (GRCm39)	N631I	probably damaging	Het
Tshr	C	T	12: 91,474,563 (GRCm39)	T179I	probably damaging	Het
Vmn2r68	A	G	7: 84,871,420 (GRCm39)	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,343,230 (GRCm39)		probably benign	Het
Zfp644	G	A	5: 106,783,944 (GRCm39)	Q837*	probably null	Het
Zfp773	A	T	7: 7,135,989 (GRCm39)	N202K	probably damaging	Het

Other mutations in Vmn1r40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Vmn1r40	APN	6	89,691,578 (GRCm39)	missense	probably damaging	0.99
IGL01432:Vmn1r40	APN	6	89,691,201 (GRCm39)	missense	probably benign
IGL01777:Vmn1r40	APN	6	89,691,204 (GRCm39)	missense	probably benign	0.38
IGL01834:Vmn1r40	APN	6	89,691,554 (GRCm39)	missense	possibly damaging	0.62
IGL01908:Vmn1r40	APN	6	89,691,285 (GRCm39)	missense	probably benign	0.00
IGL01908:Vmn1r40	APN	6	89,691,291 (GRCm39)	missense	probably damaging	0.97
IGL01999:Vmn1r40	APN	6	89,691,948 (GRCm39)	missense	probably benign	0.00
IGL02728:Vmn1r40	APN	6	89,691,998 (GRCm39)	missense	probably benign	0.05
IGL03169:Vmn1r40	APN	6	89,692,005 (GRCm39)	missense	probably damaging	0.97
R0448:Vmn1r40	UTSW	6	89,691,642 (GRCm39)	missense	probably benign	0.23
R0971:Vmn1r40	UTSW	6	89,691,272 (GRCm39)	missense	probably benign	0.00
R1208:Vmn1r40	UTSW	6	89,691,326 (GRCm39)	missense	probably benign	0.13
R1208:Vmn1r40	UTSW	6	89,691,326 (GRCm39)	missense	probably benign	0.13
R1448:Vmn1r40	UTSW	6	89,691,558 (GRCm39)	missense	probably damaging	1.00
R1739:Vmn1r40	UTSW	6	89,691,297 (GRCm39)	missense	probably benign	0.00
R2170:Vmn1r40	UTSW	6	89,691,957 (GRCm39)	missense	probably benign	0.11
R3151:Vmn1r40	UTSW	6	89,691,548 (GRCm39)	missense	probably benign	0.01
R3804:Vmn1r40	UTSW	6	89,691,991 (GRCm39)	missense	probably benign	0.29
R5098:Vmn1r40	UTSW	6	89,691,930 (GRCm39)	missense	probably damaging	1.00
R6015:Vmn1r40	UTSW	6	89,691,588 (GRCm39)	missense	probably damaging	1.00
R7216:Vmn1r40	UTSW	6	89,691,606 (GRCm39)	missense	not run
R7555:Vmn1r40	UTSW	6	89,692,026 (GRCm39)	missense	probably damaging	1.00
R7591:Vmn1r40	UTSW	6	89,691,755 (GRCm39)	missense	probably benign	0.00
R9286:Vmn1r40	UTSW	6	89,692,079 (GRCm39)	missense	probably benign	0.03
R9344:Vmn1r40	UTSW	6	89,691,235 (GRCm39)	missense	probably benign	0.00
R9449:Vmn1r40	UTSW	6	89,691,854 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCACACAACTCAGCCTTGATAG -3'
(R):5'- CAGCATTAGTTGGGTTAGGGAC -3'

Sequencing Primer
(F):5'- CTCAGCCTTGATAGGAAAGCATTAG -3'
(R):5'- TTAGTTGGGTTAGGGACAAGAAAGC -3'

Posted On

2021-11-19