Mutagenetix > Incidental Mutation

Incidental Mutation 'R1642:Or8g36'

173607

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

039678-MU

Accession Numbers

Essential gene?

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

Stock #

R1642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39422079-39423014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39422650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 122 (R122H)

Ref Sequence

ENSEMBL: ENSMUSP00000149559 (fasta)

Gene Model

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

AlphaFold

Q9EQB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051653
AA Change: R122H

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054536
Gene: ENSMUSG00000095322
AA Change: R122H

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

possibly damaging
Transcript: ENSMUST00000216177
AA Change: R122H

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,862,233 (GRCm39)	V19A	probably benign	Het
6820408C15Rik	T	C	2: 152,282,774 (GRCm39)	Y210H	probably damaging	Het
Aars1	T	A	8: 111,769,882 (GRCm39)	I327N	possibly damaging	Het
Abca6	T	A	11: 110,109,107 (GRCm39)	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,947,382 (GRCm39)	K457R	probably benign	Het
Acsm2	A	T	7: 119,162,860 (GRCm39)	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,917 (GRCm39)	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,060,588 (GRCm39)	M174K	probably benign	Het
Armh4	T	C	14: 50,005,867 (GRCm39)		probably null	Het
Bfsp1	G	A	2: 143,683,683 (GRCm39)	R214W	probably damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Clip2	T	C	5: 134,532,107 (GRCm39)	D566G	possibly damaging	Het
Colgalt1	A	G	8: 72,073,401 (GRCm39)	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,390,153 (GRCm39)	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,406,399 (GRCm39)	I18F	unknown	Het
Degs2	C	T	12: 108,658,451 (GRCm39)	C176Y	probably benign	Het
Dhx16	A	T	17: 36,201,957 (GRCm39)	T995S	probably damaging	Het
Dicer1	A	T	12: 104,679,415 (GRCm39)	C521S	probably damaging	Het
Dop1b	T	C	16: 93,559,203 (GRCm39)	S532P	probably benign	Het
Dpysl4	T	G	7: 138,670,254 (GRCm39)	M124R	probably damaging	Het
Eml6	A	G	11: 29,727,001 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,370,393 (GRCm39)	V395D	probably damaging	Het
Esf1	T	C	2: 140,000,406 (GRCm39)	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,305,634 (GRCm39)	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965 (GRCm39)	S221R	probably benign	Het
Fstl5	T	A	3: 76,317,929 (GRCm39)	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,029,906 (GRCm39)	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,873,535 (GRCm39)	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,708,471 (GRCm39)		probably benign	Het
Iqca1l	C	A	5: 24,757,686 (GRCm39)	R177L	probably damaging	Het
Itgb4	A	T	11: 115,898,183 (GRCm39)	R1646W	probably damaging	Het
Klri2	A	T	6: 129,715,837 (GRCm39)	C121S	probably benign	Het
Lamc3	A	G	2: 31,806,008 (GRCm39)	Y703C	probably damaging	Het
Lrrc10	A	G	10: 116,881,788 (GRCm39)	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,050,317 (GRCm39)	F812L	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nav1	T	C	1: 135,380,010 (GRCm39)	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Neurl4	A	G	11: 69,794,485 (GRCm39)	M23V	probably benign	Het
Nnt	A	G	13: 119,541,086 (GRCm39)		probably null	Het
Nolc1	G	C	19: 46,067,461 (GRCm39)		probably null	Het
Nrg1	A	T	8: 32,314,536 (GRCm39)	M289K	probably benign	Het
Oas3	G	T	5: 120,915,639 (GRCm39)	H17Q	possibly damaging	Het
Or10h1	A	G	17: 33,418,430 (GRCm39)	Y132C	probably damaging	Het
Or2z2	A	G	11: 58,346,664 (GRCm39)	I37T	probably benign	Het
Or5m5	A	G	2: 85,814,201 (GRCm39)	K6E	probably benign	Het
Parp9	T	C	16: 35,788,067 (GRCm39)	Y612H	probably benign	Het
Pcdh1	A	T	18: 38,332,283 (GRCm39)	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,533,987 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,366,518 (GRCm39)	V42A	probably damaging	Het
Ppic	C	T	18: 53,540,134 (GRCm39)	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 94,892,150 (GRCm39)		silent	Het
Prop1	A	G	11: 50,844,152 (GRCm39)	V27A	possibly damaging	Het
Psmc5	A	G	11: 106,153,242 (GRCm39)	T295A	probably benign	Het
Rpa1	A	G	11: 75,203,517 (GRCm39)		probably null	Het
Rrp12	A	G	19: 41,860,176 (GRCm39)	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,514,041 (GRCm39)	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,032,160 (GRCm39)	H655L	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,298,694 (GRCm39)	I1071T	possibly damaging	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Triobp	C	A	15: 78,886,348 (GRCm39)	R1830S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Znfx1	T	C	2: 166,880,930 (GRCm39)	I285V	possibly damaging	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
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
R5718:Or8g36	UTSW	9	39,422,338 (GRCm39)	missense	probably damaging	1.00
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'- TGCCTTCAGTGGAAGGAATGCG -3'
(R):5'- TGCCAGTCCAGTGTCATCATGC -3'

Sequencing Primer
(F):5'- GAACTGAAGGACAGTCCTAGTATTTC -3'
(R):5'- TGTCATCATGCCCAAAATGCTG -3'

Posted On

2014-04-24