Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Or4c12b'

655098

Institutional Source

Beutler Lab

Gene Symbol

Or4c12b

Ensembl Gene

ENSMUSG00000045148

Gene Name

olfactory receptor family 4 subfamily C member 12B

Synonyms

MOR232-4, GA_x6K02T2Q125-51257221-51258135, Olfr1255

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

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

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89646672-89647604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89647494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 269 (V269F)

Ref Sequence

ENSEMBL: ENSMUSP00000150299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057369] [ENSMUST00000214508]

AlphaFold

A2AUA4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057369
AA Change: V275F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060602
Gene: ENSMUSG00000045148
AA Change: V275F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	309	5.2e-44	PFAM
Pfam:7tm_1	45	291	4.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214508
AA Change: V269F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chkb	A	T	15: 89,312,376 (GRCm39)	V213E	possibly damaging	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah14	A	C	1: 181,633,577 (GRCm39)	H4P		Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,920,647 (GRCm39)	Q426K	probably damaging	Het

Other mutations in Or4c12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Or4c12b	APN	2	89,647,017 (GRCm39)	missense	probably damaging	1.00
IGL02902:Or4c12b	APN	2	89,647,508 (GRCm39)	nonsense	probably null
IGL03077:Or4c12b	APN	2	89,647,486 (GRCm39)	missense	probably damaging	1.00
IGL03087:Or4c12b	APN	2	89,647,015 (GRCm39)	missense	probably damaging	1.00
IGL03371:Or4c12b	APN	2	89,647,509 (GRCm39)	missense	possibly damaging	0.64
R0683:Or4c12b	UTSW	2	89,647,522 (GRCm39)	missense	probably damaging	1.00
R1428:Or4c12b	UTSW	2	89,646,725 (GRCm39)	missense	probably damaging	1.00
R1567:Or4c12b	UTSW	2	89,647,528 (GRCm39)	missense	probably damaging	1.00
R3810:Or4c12b	UTSW	2	89,647,395 (GRCm39)	missense	probably damaging	1.00
R3812:Or4c12b	UTSW	2	89,647,395 (GRCm39)	missense	probably damaging	1.00
R4900:Or4c12b	UTSW	2	89,647,312 (GRCm39)	missense	possibly damaging	0.58
R5538:Or4c12b	UTSW	2	89,646,964 (GRCm39)	missense	probably damaging	1.00
R5770:Or4c12b	UTSW	2	89,646,893 (GRCm39)	missense	probably damaging	1.00
R5894:Or4c12b	UTSW	2	89,647,557 (GRCm39)	missense	possibly damaging	0.59
R5942:Or4c12b	UTSW	2	89,646,684 (GRCm39)	nonsense	probably null
R6263:Or4c12b	UTSW	2	89,647,104 (GRCm39)	missense	probably damaging	1.00
R6271:Or4c12b	UTSW	2	89,646,906 (GRCm39)	missense	probably damaging	0.99
R6651:Or4c12b	UTSW	2	89,647,240 (GRCm39)	missense	probably benign	0.13
R7298:Or4c12b	UTSW	2	89,646,865 (GRCm39)	missense	probably damaging	0.98
R7379:Or4c12b	UTSW	2	89,647,033 (GRCm39)	missense	probably benign	0.00
R7465:Or4c12b	UTSW	2	89,646,880 (GRCm39)	missense	probably damaging	1.00
R7546:Or4c12b	UTSW	2	89,647,538 (GRCm39)	missense	probably damaging	0.99
R7546:Or4c12b	UTSW	2	89,647,363 (GRCm39)	missense	probably benign	0.00
R9513:Or4c12b	UTSW	2	89,647,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTCTTGATGGGATCCTATG -3'
(R):5'- AGGATTACAGTCCTTGTTTTACCTC -3'

Sequencing Primer
(F):5'- GGATCCTATGTGATCATCTTGCGC -3'
(R):5'- TCTCCATGTAATATCCAACCATTCAC -3'

Posted On

2020-10-20