Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Or8b12b'

265131

Institutional Source

Beutler Lab

Gene Symbol

Or8b12b

Ensembl Gene

ENSMUSG00000058628

Gene Name

olfactory receptor family 8 subfamily B member 12B

Synonyms

GA_x6K02T2PVTD-31458511-31459443, Olfr875, MOR161-4

MMRRC Submission

040564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37683933-37684936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37684489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 178 (C178F)

Ref Sequence

ENSEMBL: ENSMUSP00000150684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080634] [ENSMUST00000215128]

AlphaFold

Q7TRE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000080634
AA Change: C178F

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

SMART Domains

Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: C178F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-48	PFAM
Pfam:7tm_1	40	289	1.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215128
AA Change: C178F

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

Meta Mutation Damage Score

0.5014

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca16	A	G	7: 120,035,074 (GRCm39)	M287V	probably benign	Het
Abca7	G	A	10: 79,835,581 (GRCm39)	R283H	probably damaging	Het
Acad11	A	G	9: 103,953,535 (GRCm39)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,373,006 (GRCm39)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,765,209 (GRCm39)		probably benign	Het
Atxn10	A	G	15: 85,271,206 (GRCm39)	D248G	probably benign	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Ddx25	A	G	9: 35,462,647 (GRCm39)	V246A	probably damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Dscam	G	A	16: 96,602,555 (GRCm39)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,241,603 (GRCm39)	R311*	probably null	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gldn	A	T	9: 54,245,807 (GRCm39)	T453S	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,302,028 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,827,837 (GRCm39)	D7E	probably damaging	Het
Mms19	A	T	19: 41,938,527 (GRCm39)		probably benign	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,358,386 (GRCm39)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,784,198 (GRCm39)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,659,471 (GRCm39)	F125S	possibly damaging	Het
Pkd1l2	T	A	8: 117,795,054 (GRCm39)		probably null	Het
Prune2	A	G	19: 17,102,407 (GRCm39)	E2522G	probably damaging	Het
Radil	T	C	5: 142,481,161 (GRCm39)	T549A	possibly damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,493,526 (GRCm39)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,165,583 (GRCm39)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,271,075 (GRCm39)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,280,366 (GRCm39)	L353H	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,871,266 (GRCm39)		probably benign	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,149,457 (GRCm39)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,390 (GRCm39)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,484,391 (GRCm39)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het
Yae1d1	T	C	13: 18,167,827 (GRCm39)	E22G	probably damaging	Het

Other mutations in Or8b12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Or8b12b	APN	9	37,684,159 (GRCm39)	missense	possibly damaging	0.95
IGL02013:Or8b12b	APN	9	37,684,185 (GRCm39)	missense	probably benign	0.00
IGL02162:Or8b12b	APN	9	37,684,227 (GRCm39)	missense	probably benign	0.13
IGL02966:Or8b12b	APN	9	37,684,882 (GRCm39)	missense	probably benign	0.28
R0017:Or8b12b	UTSW	9	37,684,274 (GRCm39)	missense	probably benign	0.08
R0520:Or8b12b	UTSW	9	37,684,849 (GRCm39)	missense	probably benign	0.00
R0553:Or8b12b	UTSW	9	37,684,627 (GRCm39)	missense	probably benign	0.05
R0833:Or8b12b	UTSW	9	37,684,372 (GRCm39)	missense	probably benign	0.03
R1316:Or8b12b	UTSW	9	37,684,039 (GRCm39)	missense	possibly damaging	0.94
R1547:Or8b12b	UTSW	9	37,683,960 (GRCm39)	missense	probably benign	0.00
R1888:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1888:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1891:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1894:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R4816:Or8b12b	UTSW	9	37,684,726 (GRCm39)	missense	possibly damaging	0.72
R4829:Or8b12b	UTSW	9	37,684,243 (GRCm39)	missense	probably damaging	1.00
R4952:Or8b12b	UTSW	9	37,684,360 (GRCm39)	missense	probably damaging	0.99
R6111:Or8b12b	UTSW	9	37,684,228 (GRCm39)	missense	probably damaging	0.99
R6838:Or8b12b	UTSW	9	37,684,348 (GRCm39)	missense	possibly damaging	0.87
R7101:Or8b12b	UTSW	9	37,684,287 (GRCm39)	missense	probably damaging	0.99
R7104:Or8b12b	UTSW	9	37,684,437 (GRCm39)	missense	possibly damaging	0.64
R7224:Or8b12b	UTSW	9	37,684,711 (GRCm39)	missense	possibly damaging	0.95
R7334:Or8b12b	UTSW	9	37,684,293 (GRCm39)	missense	probably damaging	0.97
R7582:Or8b12b	UTSW	9	37,684,117 (GRCm39)	missense	probably damaging	1.00
R7909:Or8b12b	UTSW	9	37,684,033 (GRCm39)	missense	probably damaging	1.00
R8498:Or8b12b	UTSW	9	37,684,560 (GRCm39)	missense	probably damaging	1.00
R9158:Or8b12b	UTSW	9	37,684,800 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGTCAGCCATGGCATATG -3'
(R):5'- ACAATCAAGTGGGAGCTGC -3'

Sequencing Primer
(F):5'- CAGCCATGGCATATGACCGTTATG -3'
(R):5'- TGCTGAAAGCCTTGGACCTG -3'

Posted On

2015-02-05