Mutagenetix > Incidental Mutation

Incidental Mutation 'R2110:Or8g52'

232466

Institutional Source

Beutler Lab

Gene Symbol

Or8g52

Ensembl Gene

ENSMUSG00000095839

Gene Name

olfactory receptor family 8 subfamily G member 52

Synonyms

MOR171-28, Olfr965, GA_x6K02T2PVTD-33416730-33417668

MMRRC Submission

040114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39630525-39631463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39631018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 165 (R165Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069342] [ENSMUST00000213335] [ENSMUST00000215164]

AlphaFold

Q7TRA7

Predicted Effect

probably benign
Transcript: ENSMUST00000069342
AA Change: R165Q

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069696
Gene: ENSMUSG00000095839
AA Change: R165Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-47	PFAM
Pfam:7tm_1	41	290	4.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213335
AA Change: R165Q

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214875

Predicted Effect

probably benign
Transcript: ENSMUST00000215164
AA Change: R165Q

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Ablim1	T	C	19: 57,032,245 (GRCm39)	D638G	possibly damaging	Het
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,287,279 (GRCm39)	M93T	probably benign	Het
Alpk2	T	C	18: 65,440,151 (GRCm39)	E414G	possibly damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Bard1	T	A	1: 71,114,550 (GRCm39)	K144*	probably null	Het
Begain	G	T	12: 108,999,843 (GRCm39)	Y514*	probably null	Het
Ccdc186	A	T	19: 56,788,574 (GRCm39)	I545N	possibly damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,824,197 (GRCm39)	Y58C	probably damaging	Het
Cfap54	A	T	10: 92,722,229 (GRCm39)	D2437E	unknown	Het
Chd2	A	G	7: 73,079,735 (GRCm39)	S1722P	probably benign	Het
Clec5a	C	T	6: 40,562,137 (GRCm39)	G9E	probably damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col3a1	C	T	1: 45,369,305 (GRCm39)	P331S	unknown	Het
Ctsk	T	C	3: 95,413,988 (GRCm39)	I245T	probably benign	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ecm1	C	T	3: 95,643,254 (GRCm39)	A349T	probably benign	Het
Efemp2	A	G	19: 5,525,190 (GRCm39)	E32G	probably damaging	Het
Flt4	C	A	11: 49,516,131 (GRCm39)	T78K	probably benign	Het
Foxg1	A	G	12: 49,431,708 (GRCm39)		probably benign	Het
Fv1	T	C	4: 147,954,619 (GRCm39)	V395A	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gpha2	T	G	19: 6,277,532 (GRCm39)	V96G	probably damaging	Het
Gse1	A	G	8: 121,293,719 (GRCm39)	Y228C	probably damaging	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Ktn1	T	A	14: 47,931,345 (GRCm39)	M646K	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,648 (GRCm39)	H2259L	unknown	Het
Map1b	A	T	13: 99,567,629 (GRCm39)	H1697Q	unknown	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Ncoa5	C	A	2: 164,854,838 (GRCm39)	D95Y	possibly damaging	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nr3c2	T	C	8: 77,635,156 (GRCm39)	S86P	possibly damaging	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Pcsk5	C	A	19: 17,450,423 (GRCm39)	G1142C	probably damaging	Het
Pgghg	A	G	7: 140,523,453 (GRCm39)	D244G	possibly damaging	Het
Polr1has	T	C	17: 37,276,336 (GRCm39)	V306A	possibly damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Rad52	A	T	6: 119,897,855 (GRCm39)	Q356L	possibly damaging	Het
Rhpn1	T	A	15: 75,585,083 (GRCm39)	F507I	probably damaging	Het
Rhpn2	T	C	7: 35,076,433 (GRCm39)	M328T	probably benign	Het
Rnf19a	T	C	15: 36,254,665 (GRCm39)	I298V	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,184 (GRCm39)	V120A	probably benign	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc16a11	G	A	11: 70,106,146 (GRCm39)	G80D	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Spg21	T	A	9: 65,391,711 (GRCm39)		probably null	Het
Spopfm2	A	G	3: 94,082,834 (GRCm39)	S326P	probably damaging	Het
Sry	T	C	Y: 2,662,901 (GRCm39)	H253R	unknown	Het
Swt1	A	G	1: 151,279,636 (GRCm39)	S391P	probably damaging	Het
Uhrf2	A	G	19: 30,033,888 (GRCm39)	Y200C	probably damaging	Het
Utp15	T	C	13: 98,391,493 (GRCm39)	H248R	probably damaging	Het
Utp20	A	G	10: 88,603,313 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r56	A	T	7: 5,199,179 (GRCm39)	M146K	probably damaging	Het
Zfp143	A	T	7: 109,685,453 (GRCm39)	K399N	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het

Other mutations in Or8g52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Or8g52	APN	9	39,630,877 (GRCm39)	missense	possibly damaging	0.95
IGL02365:Or8g52	APN	9	39,631,396 (GRCm39)	missense	probably damaging	0.98
IGL02365:Or8g52	APN	9	39,630,970 (GRCm39)	missense	possibly damaging	0.60
IGL03062:Or8g52	APN	9	39,631,331 (GRCm39)	missense	probably benign	0.26
IGL03330:Or8g52	APN	9	39,630,784 (GRCm39)	missense	probably benign	0.08
R0011:Or8g52	UTSW	9	39,630,923 (GRCm39)	missense	probably benign	0.26
R0462:Or8g52	UTSW	9	39,630,706 (GRCm39)	missense	probably benign	0.01
R1505:Or8g52	UTSW	9	39,630,774 (GRCm39)	missense	probably damaging	1.00
R1995:Or8g52	UTSW	9	39,630,709 (GRCm39)	missense	probably damaging	1.00
R2049:Or8g52	UTSW	9	39,631,411 (GRCm39)	missense	probably damaging	1.00
R3817:Or8g52	UTSW	9	39,631,404 (GRCm39)	missense	possibly damaging	0.95
R4152:Or8g52	UTSW	9	39,631,296 (GRCm39)	missense	probably benign	0.10
R4153:Or8g52	UTSW	9	39,631,296 (GRCm39)	missense	probably benign	0.10
R4351:Or8g52	UTSW	9	39,630,865 (GRCm39)	missense	probably damaging	0.99
R4377:Or8g52	UTSW	9	39,631,103 (GRCm39)	missense	probably benign	0.04
R4667:Or8g52	UTSW	9	39,631,005 (GRCm39)	missense	probably benign	0.09
R5526:Or8g52	UTSW	9	39,630,892 (GRCm39)	missense	possibly damaging	0.95
R5816:Or8g52	UTSW	9	39,630,526 (GRCm39)	start codon destroyed	probably null	1.00
R7113:Or8g52	UTSW	9	39,630,973 (GRCm39)	missense	probably benign
R7336:Or8g52	UTSW	9	39,630,906 (GRCm39)	missense	probably benign	0.28
R8153:Or8g52	UTSW	9	39,630,954 (GRCm39)	missense	possibly damaging	0.68
R8291:Or8g52	UTSW	9	39,630,841 (GRCm39)	missense	probably benign	0.00
R8779:Or8g52	UTSW	9	39,630,636 (GRCm39)	missense	probably damaging	0.99
R9617:Or8g52	UTSW	9	39,630,678 (GRCm39)	missense	possibly damaging	0.80
R9631:Or8g52	UTSW	9	39,631,161 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TCCTACCCTGAATGCATGACAC -3'
(R):5'- GGATTCTGGCAATGATAAAGCTG -3'

Sequencing Primer
(F):5'- TGAATGCATGACACAGCTCTAC -3'
(R):5'- CTGTAAGAGCTCAAGATTGTCAGC -3'

Posted On

2014-09-18