Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Or8b48'

520717

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

044643-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38491540-38493507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38492768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 65 (N65S)

Ref Sequence

ENSEMBL: ENSMUSP00000150014 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000217160
AA Change: N65S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,781,898 (GRCm39)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Plin3	G	A	17: 56,593,223 (GRCm39)	P113L	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,355,412 (GRCm39)	D227E	probably benign	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,369,390 (GRCm39)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp628	C	G	7: 4,923,201 (GRCm39)	Y474*	probably null	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	probably damaging	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
R1552:Or8b48	UTSW	9	38,492,675 (GRCm39)	missense	probably benign	0.00
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
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'- AGAAGAATGGTCCTGACAAATCAC -3'
(R):5'- TACATGAGTGGATTGCAGATAGC -3'

Sequencing Primer
(F):5'- ATGGTCCTGACAAATCACTCTTTGG -3'
(R):5'- TTGCAGATAGCCACATAGCG -3'

Posted On

2018-06-06