Mutagenetix > Incidental Mutation

Incidental Mutation 'R9461:Or5b12b'

714895

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12861247-12862191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12861875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 210 (V210E)

Ref Sequence

ENSEMBL: ENSMUSP00000058933 (fasta)

Gene Model

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

AlphaFold

Q8VFW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049624
AA Change: V210E

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: V210E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abhd18	A	T	3: 40,859,319 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,116,736 (GRCm39)		probably null	Het
Arpp21	C	A	9: 111,965,704 (GRCm39)	R422L	probably damaging	Het
Ccdc190	G	A	1: 169,761,489 (GRCm39)	G197D	probably benign	Het
Cdc42bpa	G	T	1: 179,969,861 (GRCm39)	L1243F	probably damaging	Het
Ces2b	T	A	8: 105,564,011 (GRCm39)	F462I	probably benign	Het
Cfap45	A	G	1: 172,362,894 (GRCm39)	E295G	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col24a1	G	T	3: 145,186,879 (GRCm39)	E1227*	probably null	Het
Col5a1	A	T	2: 27,922,616 (GRCm39)	D1717V	unknown	Het
Dab2	T	C	15: 6,460,435 (GRCm39)	S448P	possibly damaging	Het
Dnajb1	T	C	8: 84,335,173 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,842,601 (GRCm39)	G1223D	probably benign	Het
Elp2	A	G	18: 24,765,869 (GRCm39)	R670G	probably damaging	Het
Eppk1	T	C	15: 75,994,668 (GRCm39)	I738V	probably benign	Het
Gas2l2	T	A	11: 83,313,031 (GRCm39)	R760S	probably damaging	Het
H1f7	C	T	15: 98,155,138 (GRCm39)	A4T	probably damaging	Het
Kif17	G	A	4: 138,005,253 (GRCm39)	V273I	probably damaging	Het
Klhdc4	T	C	8: 122,526,224 (GRCm39)	D336G	probably damaging	Het
Lmod2	A	G	6: 24,603,568 (GRCm39)	N181S	probably benign	Het
Lrp8	G	A	4: 107,700,515 (GRCm39)	G151D	possibly damaging	Het
Mb21d2	C	T	16: 28,647,261 (GRCm39)	V238M	probably damaging	Het
Mfsd4b3-ps	T	G	10: 39,823,247 (GRCm39)	I338L	probably benign	Het
Nkain2	C	T	10: 32,766,125 (GRCm39)	A112T	unknown	Het
Or14c41	T	A	7: 86,235,247 (GRCm39)	Y255N	possibly damaging	Het
Or52n2b	T	A	7: 104,565,583 (GRCm39)	I307F	probably benign	Het
Or5i1	A	G	2: 87,612,883 (GRCm39)	I2V	probably benign	Het
Pacs2	A	G	12: 113,010,727 (GRCm39)	I126V	probably benign	Het
Phyhipl	T	C	10: 70,395,243 (GRCm39)	Y321C	possibly damaging	Het
Ppm1k	T	C	6: 57,487,720 (GRCm39)	S368G	probably damaging	Het
Ranbp6	T	C	19: 29,787,163 (GRCm39)	D1063G	possibly damaging	Het
Sars2	T	C	7: 28,449,438 (GRCm39)	M322T	probably benign	Het
Serbp1	G	A	6: 67,244,313 (GRCm39)	R78H	probably benign	Het
Sfxn2	T	A	19: 46,574,192 (GRCm39)	N127K	probably damaging	Het
Sgsm1	A	T	5: 113,423,898 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,108,342 (GRCm39)	Y491C	probably damaging	Het
Slc22a22	T	A	15: 57,127,052 (GRCm39)	I6F	probably damaging	Het
Smpd1	C	T	7: 105,204,789 (GRCm39)	L223F	probably damaging	Het
Spem1	T	C	11: 69,711,741 (GRCm39)	K308E	probably benign	Het
Spsb1	A	T	4: 149,990,907 (GRCm39)	C220*	probably null	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tars3	T	C	7: 65,339,719 (GRCm39)	S705P	possibly damaging	Het
Tbc1d16	G	T	11: 119,044,781 (GRCm39)	F553L	probably damaging	Het
Thbs2	A	G	17: 14,910,435 (GRCm39)	Y55H	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tut7	G	A	13: 59,963,512 (GRCm39)	T282I	probably damaging	Het
Txnl1	T	C	18: 63,810,050 (GRCm39)	N131S	probably benign	Het
Vat1	T	C	11: 101,353,846 (GRCm39)	T175A	possibly damaging	Het
Veph1	T	A	3: 66,029,066 (GRCm39)	D651V	probably benign	Het
Zfp281	T	A	1: 136,554,500 (GRCm39)	S493T	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R2187:Or5b12b	UTSW	19	12,861,619 (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
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'- GCTTGTCTGACCATAGGTTCC -3'
(R):5'- AGATGCCATCTTGTCAGTGCC -3'

Sequencing Primer
(F):5'- ACCATAGGTTCCTATGTCTGTGGC -3'
(R):5'- CCCATGGTGTGACTGGAACTAG -3'

Posted On

2022-06-15