Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Or10x4'

405273

Institutional Source

Beutler Lab

Gene Symbol

Or10x4

Ensembl Gene

ENSMUSG00000059503

Gene Name

olfactory receptor family 10 subfamily X member 4

Synonyms

MOR267-7, GA_x6K02T2MFC0-1145-1312, GA_x6K02T2P20D-20771141-20770212, Olfr415, Olfr248

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174218612-174219621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174218791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 52 (Y52F)

Ref Sequence

ENSEMBL: ENSMUSP00000074799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075329]

AlphaFold

E9Q1L6

Predicted Effect

probably benign
Transcript: ENSMUST00000075329
AA Change: Y52F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074799
Gene: ENSMUSG00000059503
AA Change: Y52F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.2e-40	PFAM
Pfam:7tm_1	39	303	7.5e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,292,039 (GRCm39)	F480I	probably benign	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Jrk	C	A	15: 74,579,185 (GRCm39)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Or52w1	C	T	7: 105,017,620 (GRCm39)	T20I	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,022,989 (GRCm39)	I166N	possibly damaging	Het
Pak2	T	A	16: 31,840,648 (GRCm39)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	possibly damaging	Het

Other mutations in Or10x4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01649:Or10x4	APN	1	174,218,974 (GRCm39)	missense	probably damaging	1.00
R0375:Or10x4	UTSW	1	174,218,775 (GRCm39)	missense	probably damaging	1.00
R1720:Or10x4	UTSW	1	174,219,486 (GRCm39)	missense	probably benign	0.00
R1906:Or10x4	UTSW	1	174,218,730 (GRCm39)	missense	probably damaging	1.00
R1996:Or10x4	UTSW	1	174,218,983 (GRCm39)	missense	probably damaging	1.00
R2009:Or10x4	UTSW	1	174,218,995 (GRCm39)	missense	possibly damaging	0.94
R4745:Or10x4	UTSW	1	174,219,442 (GRCm39)	missense	probably damaging	1.00
R5297:Or10x4	UTSW	1	174,218,766 (GRCm39)	missense	probably benign	0.21
R5665:Or10x4	UTSW	1	174,218,941 (GRCm39)	missense	probably damaging	1.00
R5784:Or10x4	UTSW	1	174,218,965 (GRCm39)	missense	probably damaging	1.00
R5857:Or10x4	UTSW	1	174,218,674 (GRCm39)	missense	possibly damaging	0.59
R6943:Or10x4	UTSW	1	174,219,407 (GRCm39)	nonsense	probably null
R6975:Or10x4	UTSW	1	174,219,243 (GRCm39)	missense	probably benign	0.10
R7114:Or10x4	UTSW	1	174,218,805 (GRCm39)	missense	probably damaging	0.96
R7614:Or10x4	UTSW	1	174,219,220 (GRCm39)	missense	probably damaging	0.99
R8036:Or10x4	UTSW	1	174,219,382 (GRCm39)	missense	probably damaging	1.00
R8674:Or10x4	UTSW	1	174,219,258 (GRCm39)	missense	probably damaging	1.00
R8777:Or10x4	UTSW	1	174,218,848 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Or10x4	UTSW	1	174,218,848 (GRCm39)	missense	probably damaging	1.00
R9139:Or10x4	UTSW	1	174,218,649 (GRCm39)	missense	probably damaging	1.00
R9178:Or10x4	UTSW	1	174,219,229 (GRCm39)	missense	probably benign	0.36
R9256:Or10x4	UTSW	1	174,219,109 (GRCm39)	missense	probably benign	0.11
R9449:Or10x4	UTSW	1	174,218,742 (GRCm39)	missense	probably benign
R9668:Or10x4	UTSW	1	174,218,898 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCTTTCACATTTCAGGAACCCAAAC -3'
(R):5'- TGCAGATGGCCAGAAATCG -3'

Sequencing Primer
(F):5'- TTTCAGGAACCCAAACAACAATGATC -3'
(R):5'- GAAGGATACAGTTTGTTCCTCCAAGG -3'

Posted On

2016-07-22