Mutagenetix > Incidental Mutation

Incidental Mutation 'R1547:Or8b12b'

172271

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

039586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37683933-37684936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37683960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2 (T2P)

Ref Sequence

ENSEMBL: ENSMUSP00000150684 (fasta)

Gene Model

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

AlphaFold

Q7TRE5

Predicted Effect

probably benign
Transcript: ENSMUST00000080634
AA Change: T2P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: T2P

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 benign
Transcript: ENSMUST00000215128
AA Change: T2P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.3%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,403,958 (GRCm39)	V96G	probably damaging	Het
Adam5	G	T	8: 25,300,729 (GRCm39)	Q267K	probably benign	Het
Adamts6	A	G	13: 104,581,383 (GRCm39)	T833A	probably benign	Het
Ago4	C	T	4: 126,405,206 (GRCm39)	E456K	probably benign	Het
Anapc1	T	C	2: 128,459,476 (GRCm39)	Q1861R	probably benign	Het
Apob	A	T	12: 8,053,368 (GRCm39)	D1270V	probably benign	Het
Arb2a	T	C	13: 77,973,509 (GRCm39)		probably null	Het
Arhgef11	T	A	3: 87,602,709 (GRCm39)	I196N	possibly damaging	Het
Armh4	A	T	14: 50,010,953 (GRCm39)	D251E	probably benign	Het
Capzb	G	A	4: 138,989,409 (GRCm39)		probably null	Het
Ccdc183	T	A	2: 25,499,362 (GRCm39)	T466S	probably benign	Het
Cd101	T	C	3: 100,926,267 (GRCm39)	T151A	possibly damaging	Het
Cdc42bpa	A	T	1: 179,902,209 (GRCm39)	I489F	probably damaging	Het
Cetn4	T	C	3: 37,363,600 (GRCm39)	K52R	possibly damaging	Het
Dock6	C	T	9: 21,725,884 (GRCm39)	E1440K	probably damaging	Het
Edem2	A	G	2: 155,564,436 (GRCm39)	F94L	probably damaging	Het
Elp1	C	A	4: 56,792,090 (GRCm39)	R226L	probably damaging	Het
Elp1	C	T	4: 56,798,810 (GRCm39)	V51M	probably damaging	Het
Entrep1	T	C	19: 23,957,065 (GRCm39)	D315G	probably damaging	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Fat2	G	A	11: 55,143,081 (GRCm39)	P4256L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Kif19a	A	G	11: 114,677,398 (GRCm39)	E594G	probably benign	Het
Kifap3	A	G	1: 163,621,655 (GRCm39)	D101G	probably benign	Het
Klhl6	T	C	16: 19,784,832 (GRCm39)	D102G	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lamb2	A	G	9: 108,359,824 (GRCm39)	H388R	probably benign	Het
Lmna	T	C	3: 88,389,658 (GRCm39)	S656G	probably benign	Het
Map3k12	T	A	15: 102,412,287 (GRCm39)	I285F	probably damaging	Het
Map3k7	A	G	4: 31,991,796 (GRCm39)	I345V	probably benign	Het
Mcph1	A	G	8: 18,672,702 (GRCm39)	R111G	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,434 (GRCm39)	V95D	probably damaging	Het
Mogs	T	A	6: 83,093,006 (GRCm39)	M118K	possibly damaging	Het
Npy5r	T	C	8: 67,133,686 (GRCm39)	E369G	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,889 (GRCm39)	F52L	probably damaging	Het
Or10j3	T	A	1: 173,031,239 (GRCm39)	Y105*	probably null	Het
Or2t49	A	G	11: 58,392,651 (GRCm39)	S244P	probably damaging	Het
Pde7b	C	A	10: 20,310,340 (GRCm39)	L207F	probably damaging	Het
Pigo	A	G	4: 43,020,689 (GRCm39)	V751A	probably benign	Het
Polr2a	T	C	11: 69,625,381 (GRCm39)	Y1923C	probably benign	Het
Prokr2	T	C	2: 132,215,522 (GRCm39)	Y152C	probably damaging	Het
Rab40c	A	G	17: 26,102,724 (GRCm39)	S223P	probably damaging	Het
Recql4	A	C	15: 76,590,511 (GRCm39)	C658G	probably damaging	Het
Sgca	T	C	11: 94,860,259 (GRCm39)	T46A	probably damaging	Het
Slc39a4	G	T	15: 76,498,347 (GRCm39)	C363*	probably null	Het
Snap25	A	T	2: 136,619,389 (GRCm39)	I181F	possibly damaging	Het
Snx32	T	A	19: 5,547,339 (GRCm39)	Q256L	possibly damaging	Het
Soat1	A	G	1: 156,267,331 (GRCm39)	V284A	probably damaging	Het
Sox6	G	A	7: 115,300,957 (GRCm39)	T170M	possibly damaging	Het
Spag16	G	T	1: 69,912,402 (GRCm39)	V246F	possibly damaging	Het
St6galnac6	T	C	2: 32,504,977 (GRCm39)	V141A	possibly damaging	Het
Sult2a7	T	A	7: 14,211,047 (GRCm39)		probably null	Het
Syngr3	A	T	17: 24,906,698 (GRCm39)	V39E	probably damaging	Het
Tango6	A	G	8: 107,508,418 (GRCm39)	T917A	probably damaging	Het
Tas1r1	A	G	4: 152,112,876 (GRCm39)	S726P	probably damaging	Het
Zeb1	C	T	18: 5,767,450 (GRCm39)	R654C	possibly 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
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
R3055:Or8b12b	UTSW	9	37,684,489 (GRCm39)	missense	probably damaging	1.00
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'- TAACTCGTACAGAGCAGGGCATGG -3'
(R):5'- TTCAGCCCAATCAGGGAGATCAAAC -3'

Sequencing Primer
(F):5'- CCTTACTGTGCCCAGGAAGTTAG -3'
(R):5'- CAGGGAGATCAAACCCAGGTTC -3'

Posted On

2014-04-13