Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Or8b1b'

574747

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

045487-MU

Accession Numbers

Essential gene?

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

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38375330-38378952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38375439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 34 (M34K)

Ref Sequence

ENSEMBL: ENSMUSP00000150057 (fasta)

Gene Model

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

AlphaFold

Q7TRC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058153
AA Change: M34K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: M34K

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

possibly damaging
Transcript: ENSMUST00000216724
AA Change: M34K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,249,391 (GRCm39)	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,462,380 (GRCm39)	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,483,387 (GRCm39)	S229T	possibly damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Spata6	T	A	4: 111,638,017 (GRCm39)	D282E	possibly damaging	Het
Srek1	A	T	13: 103,905,890 (GRCm39)	V77E	probably damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	probably benign	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
R2424:Or8b1b	UTSW	9	38,376,128 (GRCm39)	missense	probably damaging	0.99
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
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'- TTCACTGGTGGGGAAAGAACC -3'
(R):5'- GAAATATAGCTGGGTTAAACATCCC -3'

Sequencing Primer
(F):5'- CCAGGATAGGAAGAGAGATCATTTTC -3'
(R):5'- CCCATGTAAGAAATTGCATTCTTGC -3'

Posted On

2019-10-07