Mutagenetix > Incidental Mutation

Incidental Mutation 'R5414:Or4b12'

427618

Institutional Source

Beutler Lab

Gene Symbol

Or4b12

Ensembl Gene

ENSMUSG00000075062

Gene Name

olfactory receptor family 4 subfamily B member 12

Synonyms

GA_x6K02T2Q125-51620802-51619885, Olfr1271, MOR227-5

MMRRC Submission

042983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90095855-90096772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90096046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 243 (T243A)

Ref Sequence

ENSEMBL: ENSMUSP00000149028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099751] [ENSMUST00000216383]

AlphaFold

Q8VG62

Predicted Effect

probably benign
Transcript: ENSMUST00000099751
AA Change: T243A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: T243A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.1e-50	PFAM
Pfam:7tm_1	39	285	6.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216383
AA Change: T243A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217396

Meta Mutation Damage Score

0.3415

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (55/55)

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
Abca5	A	G	11: 110,205,448 (GRCm39)	S278P	probably damaging	Het
Acan	A	G	7: 78,750,736 (GRCm39)	T1836A	probably benign	Het
Akr1c18	T	A	13: 4,186,734 (GRCm39)	D238V	probably damaging	Het
Akt3	A	G	1: 176,877,817 (GRCm39)	V317A	probably damaging	Het
Atp2b2	G	A	6: 113,819,102 (GRCm39)	P64S	probably damaging	Het
Atr	A	G	9: 95,752,757 (GRCm39)	N609S	probably benign	Het
Bcat1	A	G	6: 144,961,173 (GRCm39)		probably null	Het
C1rl	C	T	6: 124,485,427 (GRCm39)	A266V	probably damaging	Het
Cd34	A	G	1: 194,630,219 (GRCm39)	E51G	probably benign	Het
Celsr3	A	G	9: 108,717,241 (GRCm39)	E2161G	possibly damaging	Het
Clec2h	G	T	6: 128,651,749 (GRCm39)	A153S	probably benign	Het
Cnih1	T	C	14: 47,016,440 (GRCm39)	T105A	probably benign	Het
Coro1c	A	G	5: 113,986,607 (GRCm39)	I279T	possibly damaging	Het
Ddx11	A	G	17: 66,455,763 (GRCm39)	T721A	probably benign	Het
Fbn2	C	A	18: 58,226,477 (GRCm39)	A766S	probably damaging	Het
Focad	C	T	4: 88,328,939 (GRCm39)		probably benign	Het
Galnt16	A	T	12: 80,630,822 (GRCm39)	D300V	probably damaging	Het
Gbp2b	T	C	3: 142,304,852 (GRCm39)	L96P	probably damaging	Het
Gm10192	T	C	4: 97,071,346 (GRCm39)	S20G	probably null	Het
Gm10288	T	C	3: 146,544,717 (GRCm39)		noncoding transcript	Het
Gm4181	C	T	14: 51,873,047 (GRCm39)		probably null	Het
Gm6327	T	A	16: 12,578,222 (GRCm39)		noncoding transcript	Het
Hfm1	A	G	5: 107,049,942 (GRCm39)	I409T	probably damaging	Het
Ibtk	T	C	9: 85,608,742 (GRCm39)	E390G	possibly damaging	Het
Ifit1bl1	T	A	19: 34,571,324 (GRCm39)	I378F	probably damaging	Het
Kcnh4	T	C	11: 100,637,722 (GRCm39)	D645G	probably damaging	Het
Krt33b	T	C	11: 99,920,612 (GRCm39)	T14A	probably benign	Het
Lrch3	T	A	16: 32,806,335 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,543,697 (GRCm39)	L226H	probably damaging	Het
Myo1e	C	A	9: 70,229,640 (GRCm39)		probably null	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nploc4	A	T	11: 120,304,469 (GRCm39)	Y251N	probably damaging	Het
Pdk4	T	C	6: 5,485,499 (GRCm39)	I397V	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pgm5	A	G	19: 24,686,689 (GRCm39)	I506T	probably damaging	Het
Pgs1	T	G	11: 117,905,502 (GRCm39)	I499S	probably damaging	Het
Ppp6r3	A	G	19: 3,557,330 (GRCm39)	S253P	probably damaging	Het
Prag1	C	G	8: 36,606,776 (GRCm39)	P839R	probably benign	Het
Rin3	C	T	12: 102,356,116 (GRCm39)	Q806*	probably null	Het
Ros1	T	C	10: 52,031,189 (GRCm39)	D484G	probably damaging	Het
Scamp5	A	G	9: 57,354,507 (GRCm39)	V49A	probably benign	Het
Sis	C	A	3: 72,859,826 (GRCm39)	V310L	probably benign	Het
Svep1	T	C	4: 58,206,322 (GRCm39)	T19A	possibly damaging	Het
Tcstv2b	A	C	13: 120,373,872 (GRCm39)	D139E	probably damaging	Het
Tenm3	A	C	8: 48,689,390 (GRCm39)	S2066A	probably damaging	Het
Thra	A	G	11: 98,651,783 (GRCm39)	I102V	probably benign	Het
Trim30a	A	C	7: 104,060,348 (GRCm39)	V476G	probably damaging	Het
Vmn2r3	T	A	3: 64,166,978 (GRCm39)	R718*	probably null	Het
Washc4	A	G	10: 83,391,967 (GRCm39)	T218A	possibly damaging	Het
Xrcc1	A	G	7: 24,269,643 (GRCm39)	Y401C	probably damaging	Het
Zfp629	T	C	7: 127,210,454 (GRCm39)	T452A	probably damaging	Het

Other mutations in Or4b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Or4b12	APN	2	90,096,295 (GRCm39)	missense	probably damaging	0.97
IGL02901:Or4b12	APN	2	90,096,052 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Or4b12	UTSW	2	90,096,639 (GRCm39)	missense	probably damaging	0.97
PIT4468001:Or4b12	UTSW	2	90,096,564 (GRCm39)	missense	probably benign	0.00
R0325:Or4b12	UTSW	2	90,095,880 (GRCm39)	missense	probably null
R1350:Or4b12	UTSW	2	90,096,690 (GRCm39)	missense	probably damaging	0.97
R1888:Or4b12	UTSW	2	90,095,913 (GRCm39)	missense	probably damaging	1.00
R1888:Or4b12	UTSW	2	90,095,913 (GRCm39)	missense	probably damaging	1.00
R2509:Or4b12	UTSW	2	90,096,030 (GRCm39)	missense	possibly damaging	0.91
R2510:Or4b12	UTSW	2	90,095,950 (GRCm39)	missense	probably damaging	0.98
R4113:Or4b12	UTSW	2	90,096,684 (GRCm39)	missense	probably damaging	1.00
R5580:Or4b12	UTSW	2	90,096,694 (GRCm39)	missense	probably benign	0.00
R5664:Or4b12	UTSW	2	90,095,959 (GRCm39)	missense	probably damaging	0.96
R5666:Or4b12	UTSW	2	90,096,308 (GRCm39)	missense	probably benign	0.04
R5670:Or4b12	UTSW	2	90,096,308 (GRCm39)	missense	probably benign	0.04
R5881:Or4b12	UTSW	2	90,096,786 (GRCm39)	splice site	probably null
R6493:Or4b12	UTSW	2	90,096,052 (GRCm39)	missense	probably damaging	1.00
R7688:Or4b12	UTSW	2	90,095,959 (GRCm39)	missense	probably damaging	0.96
R7719:Or4b12	UTSW	2	90,096,603 (GRCm39)	missense	probably damaging	1.00
R8041:Or4b12	UTSW	2	90,096,488 (GRCm39)	nonsense	probably null
R8220:Or4b12	UTSW	2	90,096,387 (GRCm39)	missense	probably benign	0.01
R8494:Or4b12	UTSW	2	90,095,880 (GRCm39)	missense	probably null
R8736:Or4b12	UTSW	2	90,095,922 (GRCm39)	missense	possibly damaging	0.52
R8861:Or4b12	UTSW	2	90,096,803 (GRCm39)	start gained	probably benign
R9130:Or4b12	UTSW	2	90,096,358 (GRCm39)	missense	probably damaging	1.00
R9514:Or4b12	UTSW	2	90,096,709 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCTCCAGAACATACGTATAGC -3'
(R):5'- GTCCCAATGTGATTGACCACTAC -3'

Sequencing Primer
(F):5'- TCCAGAACATACGTATAGCATTTTTC -3'
(R):5'- ACTTAAGCTTGCTTGCAGTGACAC -3'

Posted On

2016-09-01