Mutagenetix > Incidental Mutation

Incidental Mutation 'R2424:Or8b1b'

249492

Institutional Source

Beutler Lab

Gene Symbol

Or8b1b

Ensembl Gene

ENSMUSG00000094380

Gene Name

olfactory receptor family 8 subfamily B member 1B

Synonyms

Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705

MMRRC Submission

040386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38375330-38378952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38376128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 264 (S264P)

Ref Sequence

ENSEMBL: ENSMUSP00000150057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]

AlphaFold

Q7TRC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000058153
AA Change: S264P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: S264P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-51	PFAM
Pfam:7tm_1	41	291	1.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216724
AA Change: S264P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,590,159 (GRCm39)		probably null	Het
Acot3	G	T	12: 84,100,638 (GRCm39)	R138L	probably damaging	Het
Ago3	A	G	4: 126,298,040 (GRCm39)	V160A	probably damaging	Het
Akap9	A	C	5: 4,115,279 (GRCm39)	E166D	probably damaging	Het
Arid5a	T	C	1: 36,357,582 (GRCm39)	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,494,297 (GRCm39)	V244A	probably benign	Het
Atp10a	A	T	7: 58,444,303 (GRCm39)	H560L	probably benign	Het
Btbd6	A	G	12: 112,941,980 (GRCm39)	T482A	probably benign	Het
Cacna1d	A	T	14: 29,770,980 (GRCm39)	Y1828N	probably damaging	Het
Capzb	A	G	4: 138,921,441 (GRCm39)	M1V	probably null	Het
Cdh9	T	G	15: 16,850,440 (GRCm39)	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,386,760 (GRCm39)	S846P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dock7	T	A	4: 98,833,544 (GRCm39)	R1886*	probably null	Het
Dpp3	A	T	19: 4,957,735 (GRCm39)	L711*	probably null	Het
Dst	T	A	1: 34,206,141 (GRCm39)	I566N	probably damaging	Het
Eif2b3	T	A	4: 116,928,045 (GRCm39)	S421R	probably benign	Het
Epg5	T	C	18: 78,011,828 (GRCm39)	V825A	probably benign	Het
Eya1	T	A	1: 14,341,072 (GRCm39)		probably benign	Het
Fam187a	T	C	11: 102,776,780 (GRCm39)	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,336,859 (GRCm39)	C132Y	probably damaging	Het
Fbxw21	A	T	9: 108,986,587 (GRCm39)	Y97*	probably null	Het
Grin1	A	T	2: 25,208,664 (GRCm39)	C79S	probably null	Het
Haao	T	A	17: 84,142,991 (GRCm39)	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222 (GRCm39)	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,234,116 (GRCm39)	N66K	probably damaging	Het
Kif21a	T	A	15: 90,855,399 (GRCm39)	N668I	probably damaging	Het
Kprp	A	T	3: 92,732,912 (GRCm39)	L46Q	probably damaging	Het
Lama1	C	T	17: 68,105,660 (GRCm39)	T2056I	probably benign	Het
Madd	G	C	2: 90,996,967 (GRCm39)	D824E	probably damaging	Het
Mapk9	A	G	11: 49,754,499 (GRCm39)	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,527,748 (GRCm39)	V160A	probably benign	Het
Mrpl9	T	C	3: 94,351,113 (GRCm39)	S98P	probably benign	Het
Mybpc3	A	T	2: 90,966,138 (GRCm39)	M1233L	probably benign	Het
Neb	A	G	2: 52,099,671 (GRCm39)		probably benign	Het
Ngly1	A	G	14: 16,290,721 (GRCm38)		probably null	Het
Nt5c1b	A	T	12: 10,420,072 (GRCm39)	T4S	probably damaging	Het
Obscn	T	C	11: 58,885,277 (GRCm39)		probably benign	Het
Or2h2c	T	C	17: 37,422,408 (GRCm39)	I155M	probably benign	Het
Or4k15b	T	C	14: 50,272,281 (GRCm39)	Y193C	probably damaging	Het
Or8g53	A	G	9: 39,683,593 (GRCm39)	F168L	probably benign	Het
Otog	A	T	7: 45,947,593 (GRCm39)	K64*	probably null	Het
Papola	A	G	12: 105,793,311 (GRCm39)	T544A	probably benign	Het
Phc1	A	G	6: 122,297,002 (GRCm39)	V790A	probably damaging	Het
Phf3	G	T	1: 30,845,430 (GRCm39)	R1252S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,730 (GRCm39)	T691A	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rgs17	T	A	10: 5,783,111 (GRCm39)	I159F	probably damaging	Het
Rgs17	T	A	10: 5,792,560 (GRCm39)	E62V	probably benign	Het
Rnase1	A	G	14: 51,383,004 (GRCm39)	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,811,096 (GRCm39)	D189G	probably damaging	Het
Sema4b	A	G	7: 79,869,023 (GRCm39)	N365S	probably damaging	Het
Setd2	A	G	9: 110,446,590 (GRCm39)	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,738,189 (GRCm39)	C415F	probably benign	Het
Stim1	A	G	7: 102,057,612 (GRCm39)	I142V	probably benign	Het
Supt5	T	C	7: 28,014,590 (GRCm39)	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,733,795 (GRCm39)	F174L	possibly damaging	Het
Tex26	A	G	5: 149,393,913 (GRCm39)		probably benign	Het
Tmem132d	A	G	5: 127,941,663 (GRCm39)	V479A	probably benign	Het
Ttn	T	C	2: 76,711,489 (GRCm39)		probably benign	Het
Urb2	T	A	8: 124,757,165 (GRCm39)	N957K	probably benign	Het
Usp24	T	C	4: 106,256,310 (GRCm39)		probably null	Het
Vmn2r114	T	C	17: 23,515,842 (GRCm39)	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,400,161 (GRCm39)	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,356,431 (GRCm39)	Y699*	probably null	Het

Other mutations in Or8b1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Or8b1b	APN	9	38,376,030 (GRCm39)	missense	probably benign
IGL01966:Or8b1b	APN	9	38,376,225 (GRCm39)	missense	possibly damaging	0.82
IGL02328:Or8b1b	APN	9	38,375,972 (GRCm39)	missense	probably benign
IGL03394:Or8b1b	APN	9	38,375,517 (GRCm39)	missense	probably damaging	1.00
R0085:Or8b1b	UTSW	9	38,375,958 (GRCm39)	missense	probably benign	0.37
R0125:Or8b1b	UTSW	9	38,375,757 (GRCm39)	nonsense	probably null
R1506:Or8b1b	UTSW	9	38,375,439 (GRCm39)	missense	probably benign	0.02
R1545:Or8b1b	UTSW	9	38,375,815 (GRCm39)	missense	probably benign	0.37
R1610:Or8b1b	UTSW	9	38,375,927 (GRCm39)	missense	probably damaging	0.97
R2008:Or8b1b	UTSW	9	38,375,537 (GRCm39)	missense	probably damaging	1.00
R3824:Or8b1b	UTSW	9	38,375,822 (GRCm39)	missense	probably benign	0.13
R3964:Or8b1b	UTSW	9	38,375,979 (GRCm39)	missense	probably benign	0.25
R4093:Or8b1b	UTSW	9	38,375,379 (GRCm39)	missense	probably null	1.00
R4454:Or8b1b	UTSW	9	38,375,938 (GRCm39)	missense	probably benign	0.03
R5650:Or8b1b	UTSW	9	38,376,023 (GRCm39)	nonsense	probably null
R6921:Or8b1b	UTSW	9	38,375,543 (GRCm39)	missense	probably benign	0.01
R7406:Or8b1b	UTSW	9	38,375,439 (GRCm39)	missense	possibly damaging	0.88
R7597:Or8b1b	UTSW	9	38,375,802 (GRCm39)	missense	probably benign	0.01
R7959:Or8b1b	UTSW	9	38,376,211 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACCTATGTCAATGAGCTTGTAG -3'
(R):5'- AGCATGCCTCTAACCACAGG -3'

Sequencing Primer
(F):5'- GTGGGCATCAATATCATTGTGC -3'
(R):5'- ACAGGCAGGTACACGTTGTCTC -3'

Posted On

2014-11-12