Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Or8b52'

171107

Institutional Source

Beutler Lab

Gene Symbol

Or8b52

Ensembl Gene

ENSMUSG00000063225

Gene Name

olfactory receptor family 8 subfamily B member 52

Synonyms

MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38576209-38577138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38576573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 189 (T189M)

Ref Sequence

ENSEMBL: ENSMUSP00000075857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]

AlphaFold

Q7TRC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076542
AA Change: T189M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: T189M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.2e-42	PFAM
Pfam:7tm_1	41	289	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213750

Predicted Effect

probably benign
Transcript: ENSMUST00000215461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217596

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	possibly damaging	Het

Other mutations in Or8b52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Or8b52	APN	9	38,576,289 (GRCm39)	missense	probably benign
IGL02704:Or8b52	APN	9	38,577,063 (GRCm39)	missense	possibly damaging	0.84
R0529:Or8b52	UTSW	9	38,576,808 (GRCm39)	missense	probably benign	0.11
R1681:Or8b52	UTSW	9	38,576,616 (GRCm39)	missense	probably benign
R2941:Or8b52	UTSW	9	38,576,322 (GRCm39)	missense	probably damaging	0.98
R3083:Or8b52	UTSW	9	38,576,912 (GRCm39)	missense	probably damaging	0.99
R4450:Or8b52	UTSW	9	38,577,050 (GRCm39)	missense	probably benign	0.17
R4755:Or8b52	UTSW	9	38,577,128 (GRCm39)	missense	probably benign
R4774:Or8b52	UTSW	9	38,576,519 (GRCm39)	missense	probably benign	0.21
R5322:Or8b52	UTSW	9	38,576,502 (GRCm39)	missense	probably benign	0.24
R5577:Or8b52	UTSW	9	38,576,297 (GRCm39)	missense	possibly damaging	0.49
R6101:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R6105:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R7084:Or8b52	UTSW	9	38,576,565 (GRCm39)	missense	probably benign	0.04
R8048:Or8b52	UTSW	9	38,577,108 (GRCm39)	missense	probably benign	0.03
R8280:Or8b52	UTSW	9	38,576,783 (GRCm39)	missense	probably damaging	1.00
R8676:Or8b52	UTSW	9	38,577,064 (GRCm39)	missense	probably benign	0.02
R8924:Or8b52	UTSW	9	38,576,780 (GRCm39)	missense	probably damaging	1.00
R9087:Or8b52	UTSW	9	38,576,711 (GRCm39)	missense	probably damaging	1.00
R9117:Or8b52	UTSW	9	38,577,106 (GRCm39)	missense	probably benign	0.03
R9220:Or8b52	UTSW	9	38,576,803 (GRCm39)	nonsense	probably null
R9317:Or8b52	UTSW	9	38,576,655 (GRCm39)	missense	probably benign	0.00
R9318:Or8b52	UTSW	9	38,576,580 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GCAGCAATGATGTGTGAGCTACAAG -3'
(R):5'- TTTCTGGCAATGTACCTGGTCACTG -3'

Sequencing Primer
(F):5'- ATGTGTGAGCTACAAGTGCTG -3'
(R):5'- TGGAATGTATGGCCCAACTC -3'

Posted On

2014-04-13