Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Or5b12b'

237905

Institutional Source

Beutler Lab

Gene Symbol

Or5b12b

Ensembl Gene

ENSMUSG00000045126

Gene Name

olfactory receptor family 5 subfamily B member 12B

Synonyms

MOR202-7, GA_x6K02T2RE5P-3213352-3214296, Olfr1445

MMRRC Submission

040189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12861247-12862191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12861619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 125 (C125S)

Ref Sequence

ENSEMBL: ENSMUSP00000058933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000216805]

AlphaFold

Q8VFW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049624
AA Change: C125S

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

SMART Domains

Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: C125S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.7e-54	PFAM
Pfam:7tm_1	39	288	4.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216805

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,877,219 (GRCm39)	Q327P	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,823,537 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,198,698 (GRCm39)	R574C	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,427,653 (GRCm39)	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Tc2n	G	A	12: 101,672,803 (GRCm39)	T46I	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	probably damaging	Het

Other mutations in Or5b12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Or5b12b	APN	19	12,861,265 (GRCm39)	missense	probably benign	0.03
IGL01786:Or5b12b	APN	19	12,861,641 (GRCm39)	missense	probably damaging	0.99
IGL02375:Or5b12b	APN	19	12,861,305 (GRCm39)	missense	probably benign	0.00
IGL03220:Or5b12b	APN	19	12,861,815 (GRCm39)	missense	possibly damaging	0.80
IGL03232:Or5b12b	APN	19	12,861,636 (GRCm39)	nonsense	probably null
R0505:Or5b12b	UTSW	19	12,861,910 (GRCm39)	missense	probably damaging	1.00
R0505:Or5b12b	UTSW	19	12,861,443 (GRCm39)	missense	probably damaging	1.00
R0541:Or5b12b	UTSW	19	12,861,458 (GRCm39)	missense	probably damaging	1.00
R0681:Or5b12b	UTSW	19	12,861,910 (GRCm39)	missense	probably damaging	1.00
R0681:Or5b12b	UTSW	19	12,861,443 (GRCm39)	missense	probably damaging	1.00
R2231:Or5b12b	UTSW	19	12,861,313 (GRCm39)	missense	probably benign	0.00
R3706:Or5b12b	UTSW	19	12,861,260 (GRCm39)	missense	probably damaging	1.00
R4698:Or5b12b	UTSW	19	12,861,985 (GRCm39)	missense	probably benign	0.08
R5558:Or5b12b	UTSW	19	12,861,751 (GRCm39)	missense	probably benign	0.01
R6163:Or5b12b	UTSW	19	12,861,472 (GRCm39)	missense	probably damaging	1.00
R7057:Or5b12b	UTSW	19	12,862,006 (GRCm39)	missense	probably damaging	0.98
R7063:Or5b12b	UTSW	19	12,861,449 (GRCm39)	missense	probably damaging	1.00
R7705:Or5b12b	UTSW	19	12,861,871 (GRCm39)	missense	probably benign	0.01
R8073:Or5b12b	UTSW	19	12,861,980 (GRCm39)	missense	probably benign	0.00
R8174:Or5b12b	UTSW	19	12,861,268 (GRCm39)	missense	probably benign	0.04
R8922:Or5b12b	UTSW	19	12,861,458 (GRCm39)	missense	probably damaging	1.00
R9283:Or5b12b	UTSW	19	12,861,961 (GRCm39)	missense	probably damaging	1.00
R9461:Or5b12b	UTSW	19	12,861,875 (GRCm39)	missense	possibly damaging	0.54
R9590:Or5b12b	UTSW	19	12,861,980 (GRCm39)	missense	probably benign
R9784:Or5b12b	UTSW	19	12,861,874 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCTGGACTCACATCTCCAC -3'
(R):5'- GTCTGAACATGATAGGGCCAGG -3'

Sequencing Primer
(F):5'- CAGTCATCTATCTCTGGTGGAC -3'
(R):5'- CCAGGAGAGGTGGTGCATCAC -3'

Posted On

2014-10-02