Mutagenetix > Incidental Mutation

Incidental Mutation 'R5718:Or8g36'

451286

Institutional Source

Beutler Lab

Gene Symbol

Or8g36

Ensembl Gene

ENSMUSG00000095322

Gene Name

olfactory receptor family 8 subfamily G member 36

Synonyms

Olfr957, MOR171-12, GA_x6K02T2PVTD-33208209-33207274

MMRRC Submission

043338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39422079-39423014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39422338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 226 (L226H)

Ref Sequence

ENSEMBL: ENSMUSP00000149559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051653] [ENSMUST00000216177]

AlphaFold

Q9EQB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000051653
AA Change: L226H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054536
Gene: ENSMUSG00000095322
AA Change: L226H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-50	PFAM
Pfam:7tm_1	41	290	3.8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216177
AA Change: L226H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,603,514 (GRCm39)		probably null	Het
Ahctf1	G	T	1: 179,596,904 (GRCm39)	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,331,678 (GRCm39)	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,835,774 (GRCm39)	T20I	probably damaging	Het
Armc3	T	G	2: 19,308,610 (GRCm39)	Y759*	probably null	Het
Atg5	A	G	10: 44,238,983 (GRCm39)	S255G	probably benign	Het
Atp11b	A	G	3: 35,891,665 (GRCm39)	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,107,009 (GRCm39)	K770N	probably damaging	Het
Bptf	G	T	11: 107,002,260 (GRCm39)	A284E	probably damaging	Het
Celsr2	A	G	3: 108,300,674 (GRCm39)	S815P	probably benign	Het
Chrna5	A	G	9: 54,905,389 (GRCm39)	H67R	probably benign	Het
Cic	A	G	7: 24,972,203 (GRCm39)	I645V	probably benign	Het
Clpx	A	T	9: 65,207,246 (GRCm39)	Q48L	probably benign	Het
Crhr2	G	A	6: 55,069,085 (GRCm39)	Q397*	probably null	Het
Cyp11a1	G	A	9: 57,925,508 (GRCm39)	V48I	probably benign	Het
Dchs1	C	T	7: 105,404,955 (GRCm39)	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,787,826 (GRCm39)	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,735,789 (GRCm39)	D986E	probably benign	Het
Efcab6	T	A	15: 83,788,439 (GRCm39)	N952Y	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epg5	G	A	18: 78,029,618 (GRCm39)	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,520,636 (GRCm39)	E241G	probably benign	Het
Fsd1	T	G	17: 56,297,542 (GRCm39)		probably benign	Het
Gcnt3	A	G	9: 69,941,552 (GRCm39)	S339P	probably benign	Het
Gldc	T	A	19: 30,088,172 (GRCm39)	K829*	probably null	Het
Gli3	G	A	13: 15,652,750 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,566,351 (GRCm39)	C2217*	probably null	Het
Hmcn1	A	T	1: 150,485,417 (GRCm39)	I4395N	probably damaging	Het
Hmgxb3	A	G	18: 61,273,909 (GRCm39)	M861T	probably benign	Het
Ift172	A	G	5: 31,412,621 (GRCm39)	S1545P	possibly damaging	Het
Jak3	C	A	8: 72,136,998 (GRCm39)	L725M	probably damaging	Het
Lrig2	A	T	3: 104,375,931 (GRCm39)	C90*	probably null	Het
Mcm7	C	T	5: 138,163,081 (GRCm39)	R357H	possibly damaging	Het
Mcoln2	T	C	3: 145,887,581 (GRCm39)	S333P	probably damaging	Het
Mrpl22	A	T	11: 58,068,109 (GRCm39)	I136L	probably benign	Het
Ncam2	A	T	16: 81,386,702 (GRCm39)		probably null	Het
Ncdn	G	A	4: 126,643,743 (GRCm39)	Q360*	probably null	Het
Nsun2	A	G	13: 69,771,403 (GRCm39)	K338E	probably benign	Het
Obscn	T	C	11: 58,927,634 (GRCm39)	T6105A	probably damaging	Het
Or2aj6	G	A	16: 19,443,139 (GRCm39)	S237F	probably benign	Het
Pcnx4	T	A	12: 72,613,968 (GRCm39)	F638I	possibly damaging	Het
Pfn3	T	C	13: 55,562,853 (GRCm39)	I43V	probably benign	Het
Pigm	C	A	1: 172,205,012 (GRCm39)		probably null	Het
Pkhd1l1	T	A	15: 44,408,813 (GRCm39)	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,138,704 (GRCm39)	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qrich1	T	A	9: 108,406,022 (GRCm39)	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,295,326 (GRCm39)		probably null	Het
Rarg	A	C	15: 102,149,502 (GRCm39)	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,783,954 (GRCm39)	K133R	probably benign	Het
Rcor1	A	G	12: 111,068,069 (GRCm39)	D158G	probably benign	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Sipa1l2	T	A	8: 126,217,987 (GRCm39)	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,764,941 (GRCm39)	I263V	probably benign	Het
Slc25a32	A	T	15: 38,960,957 (GRCm39)	V242E	probably benign	Het
Slc5a5	T	A	8: 71,340,399 (GRCm39)	T484S	probably benign	Het
Tdrd3	T	C	14: 87,743,876 (GRCm39)	V608A	probably benign	Het
Thnsl1	C	A	2: 21,216,811 (GRCm39)	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,032,649 (GRCm39)	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,169,103 (GRCm39)	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,471,903 (GRCm39)	F10I	probably benign	Het
Zbtb1	G	A	12: 76,433,698 (GRCm39)	M561I	probably benign	Het
Zfp708	T	C	13: 67,218,522 (GRCm39)	K446E	probably benign	Het

Other mutations in Or8g36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Or8g36	APN	9	39,422,342 (GRCm39)	missense	possibly damaging	0.64
R0603:Or8g36	UTSW	9	39,422,810 (GRCm39)	missense	possibly damaging	0.76
R1642:Or8g36	UTSW	9	39,422,650 (GRCm39)	missense	possibly damaging	0.78
R2044:Or8g36	UTSW	9	39,422,674 (GRCm39)	missense	probably damaging	0.99
R2182:Or8g36	UTSW	9	39,422,722 (GRCm39)	missense	probably damaging	1.00
R2290:Or8g36	UTSW	9	39,422,974 (GRCm39)	missense	possibly damaging	0.87
R4246:Or8g36	UTSW	9	39,422,899 (GRCm39)	missense	probably benign	0.31
R4248:Or8g36	UTSW	9	39,422,899 (GRCm39)	missense	probably benign	0.31
R5273:Or8g36	UTSW	9	39,422,795 (GRCm39)	missense	possibly damaging	0.95
R5495:Or8g36	UTSW	9	39,422,441 (GRCm39)	missense	probably benign	0.39
R5827:Or8g36	UTSW	9	39,422,354 (GRCm39)	missense	probably damaging	1.00
R6261:Or8g36	UTSW	9	39,422,105 (GRCm39)	missense	probably benign
R6917:Or8g36	UTSW	9	39,422,495 (GRCm39)	missense	probably damaging	1.00
R7965:Or8g36	UTSW	9	39,422,810 (GRCm39)	missense	probably benign	0.00
R8357:Or8g36	UTSW	9	39,422,442 (GRCm39)	missense	probably benign	0.38
R8457:Or8g36	UTSW	9	39,422,442 (GRCm39)	missense	probably benign	0.38
R8896:Or8g36	UTSW	9	39,422,770 (GRCm39)	missense	probably damaging	1.00
R8938:Or8g36	UTSW	9	39,422,910 (GRCm39)	nonsense	probably null
R9249:Or8g36	UTSW	9	39,422,149 (GRCm39)	missense	probably damaging	1.00
R9629:Or8g36	UTSW	9	39,422,497 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCAGCATGGGCACAACAATG -3'
(R):5'- TGATTTGTGCCACAGGGGAAAC -3'

Sequencing Primer
(F):5'- GGTATAAAATACAGAGGACACTTTCC -3'
(R):5'- GGAAACAGTCTGCCTGCTTAGAC -3'

Posted On

2017-01-03