Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Or8b48'

170018

Institutional Source

Beutler Lab

Gene Symbol

Or8b48

Ensembl Gene

ENSMUSG00000111448

Gene Name

olfactory receptor family 8 subfamily B member 48

Synonyms

MOR165-4, GA_x6K02T2PVTD-32283590-32284522, Olfr912

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38491540-38493507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38492675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 34 (M34T)

Ref Sequence

ENSEMBL: ENSMUSP00000071604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000217160]

AlphaFold

A0A1L1SSS5

Predicted Effect

probably benign
Transcript: ENSMUST00000071681
AA Change: M34T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: M34T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.8e-51	PFAM
Pfam:7tm_1	41	290	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217160
AA Change: M34T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,217,617 (GRCm39)	I365F	probably damaging	Het
Abhd15	T	C	11: 77,406,233 (GRCm39)	L70P	probably damaging	Het
Adam18	A	C	8: 25,136,377 (GRCm39)	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,645,321 (GRCm39)		probably null	Het
Arcn1	C	T	9: 44,670,291 (GRCm39)	A112T	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Calhm1	C	T	19: 47,129,640 (GRCm39)	R294H	probably benign	Het
Ccdc121rt1	A	G	1: 181,338,556 (GRCm39)	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,615 (GRCm39)	E81G	probably benign	Het
Cep170	T	C	1: 176,610,060 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,786,484 (GRCm39)	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 54,923,192 (GRCm39)	E205D	probably benign	Het
Chst5	T	C	8: 112,616,912 (GRCm39)	D236G	probably damaging	Het
Coro1a	T	C	7: 126,299,124 (GRCm39)	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,373,346 (GRCm39)	I474V	probably benign	Het
Cyth3	G	A	5: 143,683,505 (GRCm39)	V87I	probably benign	Het
Dclk3	C	A	9: 111,317,647 (GRCm39)	T761K	probably damaging	Het
Dvl2	T	A	11: 69,897,198 (GRCm39)	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Exog	T	C	9: 119,274,176 (GRCm39)	S54P	unknown	Het
Fasn	A	G	11: 120,709,384 (GRCm39)	S519P	probably damaging	Het
Gas8	G	A	8: 124,247,385 (GRCm39)	A16T	probably benign	Het
Got2	A	G	8: 96,596,122 (GRCm39)	S333P	probably benign	Het
Hadhb	T	A	5: 30,381,931 (GRCm39)	L287Q	probably null	Het
Ift57	A	G	16: 49,579,716 (GRCm39)	T211A	probably benign	Het
Il1rap	A	G	16: 26,541,184 (GRCm39)	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,312,316 (GRCm39)	D11E	probably damaging	Het
Impact	T	C	18: 13,117,337 (GRCm39)	S137P	probably benign	Het
Jarid2	T	C	13: 45,064,675 (GRCm39)	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,223,890 (GRCm39)	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,375,325 (GRCm39)	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,618,767 (GRCm39)	Y48C	probably damaging	Het
Klra5	G	T	6: 129,886,848 (GRCm39)	T60K	probably damaging	Het
Kng2	A	T	16: 22,806,270 (GRCm39)	L643H	probably damaging	Het
Lamb3	A	G	1: 193,013,067 (GRCm39)		probably null	Het
Lingo2	A	G	4: 35,708,315 (GRCm39)	V555A	probably damaging	Het
Mbd5	T	C	2: 49,162,946 (GRCm39)	S251P	probably damaging	Het
Mc4r	T	C	18: 66,992,766 (GRCm39)	S116G	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Myo15b	A	C	11: 115,757,461 (GRCm39)	S1104R	probably benign	Het
Nek1	T	A	8: 61,459,771 (GRCm39)	D26E	probably damaging	Het
Neu1	C	T	17: 35,151,089 (GRCm39)		probably benign	Het
Npffr2	T	C	5: 89,730,975 (GRCm39)	S302P	possibly damaging	Het
Palmd	T	A	3: 116,741,689 (GRCm39)		probably benign	Het
Pcdh8	A	T	14: 80,008,047 (GRCm39)	V172E	probably benign	Het
Pnpla6	C	A	8: 3,572,403 (GRCm39)	Q291K	probably damaging	Het
Pou2af2	T	A	9: 51,202,870 (GRCm39)	S95C	probably damaging	Het
Prkch	T	C	12: 73,749,320 (GRCm39)	F357L	probably benign	Het
Ptprj	A	T	2: 90,301,497 (GRCm39)	Y212N	probably damaging	Het
Reln	G	T	5: 22,165,376 (GRCm39)	H2061N	probably benign	Het
Rint1	T	A	5: 24,005,656 (GRCm39)	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468 (GRCm39)		probably null	Het
Slc30a4	T	A	2: 122,527,936 (GRCm39)	I374L	probably benign	Het
Slfn10-ps	T	C	11: 82,920,676 (GRCm39)		noncoding transcript	Het
Smcp	A	T	3: 92,491,710 (GRCm39)	C46S	unknown	Het
Smu1	A	C	4: 40,748,570 (GRCm39)	V240G	probably damaging	Het
Srsf5	A	G	12: 80,996,519 (GRCm39)		probably benign	Het
Stn1	T	C	19: 47,524,812 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,262,335 (GRCm39)	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,607,130 (GRCm39)	Y222H	probably benign	Het
Tescl	G	T	7: 24,032,758 (GRCm39)	P189Q	probably benign	Het
Tlr1	A	G	5: 65,084,203 (GRCm39)	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,609,880 (GRCm39)	D566E	possibly damaging	Het
Unc13b	A	T	4: 43,237,144 (GRCm39)	T3405S	probably damaging	Het
Upf1	G	A	8: 70,785,709 (GRCm39)	Q1046*	probably null	Het
Wwox	T	A	8: 115,172,090 (GRCm39)	Y61*	probably null	Het
Zfhx4	C	T	3: 5,468,170 (GRCm39)	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,888,488 (GRCm39)		probably benign	Het

Other mutations in Or8b48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Or8b48	APN	9	38,492,672 (GRCm39)	missense	probably damaging	0.97
IGL01099:Or8b48	APN	9	38,493,373 (GRCm39)	missense	probably benign	0.00
IGL01749:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01750:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01751:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01752:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01753:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02262:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02264:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02298:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02305:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02309:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02309:Or8b48	APN	9	38,492,729 (GRCm39)	missense	probably damaging	1.00
IGL02317:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02401:Or8b48	APN	9	38,492,651 (GRCm39)	missense	probably damaging	1.00
R0311:Or8b48	UTSW	9	38,450,593 (GRCm39)	missense	probably benign	0.42
R0973:Or8b48	UTSW	9	38,492,579 (GRCm39)	missense	possibly damaging	0.74
R1720:Or8b48	UTSW	9	38,492,585 (GRCm39)	missense	probably benign
R2149:Or8b48	UTSW	9	38,492,804 (GRCm39)	missense	probably benign	0.02
R2241:Or8b48	UTSW	9	38,493,101 (GRCm39)	missense	probably damaging	1.00
R3622:Or8b48	UTSW	9	38,492,792 (GRCm39)	missense	probably damaging	1.00
R4384:Or8b48	UTSW	9	38,493,349 (GRCm39)	missense	probably damaging	1.00
R4686:Or8b48	UTSW	9	38,493,327 (GRCm39)	missense	probably damaging	1.00
R4780:Or8b48	UTSW	9	38,493,265 (GRCm39)	missense	possibly damaging	0.84
R5221:Or8b48	UTSW	9	38,493,148 (GRCm39)	missense	probably damaging	1.00
R5503:Or8b48	UTSW	9	38,493,368 (GRCm39)	missense	probably benign
R5887:Or8b48	UTSW	9	38,493,080 (GRCm39)	missense	probably damaging	1.00
R6062:Or8b48	UTSW	9	38,450,440 (GRCm39)	missense	probably damaging	0.97
R6516:Or8b48	UTSW	9	38,492,768 (GRCm39)	missense	probably damaging	1.00
R6542:Or8b48	UTSW	9	38,450,733 (GRCm39)	missense	probably benign	0.01
R6766:Or8b48	UTSW	9	38,493,069 (GRCm39)	missense	probably damaging	1.00
R7057:Or8b48	UTSW	9	38,493,050 (GRCm39)	missense	probably damaging	1.00
R7112:Or8b48	UTSW	9	38,493,330 (GRCm39)	nonsense	probably null
R7414:Or8b48	UTSW	9	38,492,764 (GRCm39)	missense	probably benign	0.00
R7514:Or8b48	UTSW	9	38,493,347 (GRCm39)	missense	probably damaging	0.96
R7915:Or8b48	UTSW	9	38,492,969 (GRCm39)	missense	probably damaging	1.00
R9205:Or8b48	UTSW	9	38,493,373 (GRCm39)	missense	probably benign	0.00
R9290:Or8b48	UTSW	9	38,493,334 (GRCm39)	missense	probably damaging	1.00
R9626:Or8b48	UTSW	9	38,492,977 (GRCm39)	missense	probably benign
Z1176:Or8b48	UTSW	9	38,493,181 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATTTTCAGGCATTCCCACCAC -3'
(R):5'- GCGATCATAAGCCATTGCTGTCAGG -3'

Sequencing Primer
(F):5'- CCCACCACATGTGTCATATATATGG -3'
(R):5'- GTAGAGTTGAGTCATACATCCCGC -3'

Posted On

2014-04-13