Mutagenetix > Incidental Mutation

Incidental Mutation 'R1350:Or4b12'

159511

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

039415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90095855-90096772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90096690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 28 (L28Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149028 (fasta)

Gene Model

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

AlphaFold

Q8VG62

Predicted Effect

probably damaging
Transcript: ENSMUST00000099751
AA Change: L28Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: L28Q

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 damaging
Transcript: ENSMUST00000216383
AA Change: L28Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217396

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,400,925 (GRCm39)	V640A	probably benign	Het
AI661453	C	T	17: 47,778,853 (GRCm39)	Q860*	probably null	Het
Atp10d	A	G	5: 72,418,469 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,205,950 (GRCm39)		probably null	Het
Bivm	T	A	1: 44,165,863 (GRCm39)	N104K	possibly damaging	Het
Capn15	A	G	17: 26,183,666 (GRCm39)	S338P	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccn6	C	T	10: 39,034,302 (GRCm39)	C100Y	probably damaging	Het
Col13a1	G	A	10: 61,729,848 (GRCm39)		probably benign	Het
Crb2	A	G	2: 37,682,081 (GRCm39)	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,771,081 (GRCm39)	I1105F	probably damaging	Het
Dnaja2	A	T	8: 86,266,717 (GRCm39)	F337I	probably damaging	Het
Dntt	C	T	19: 41,025,578 (GRCm39)		probably benign	Het
Dock3	C	T	9: 106,791,831 (GRCm39)	E1381K	possibly damaging	Het
Fibp	T	C	19: 5,511,419 (GRCm39)	Y96H	probably damaging	Het
Garnl3	A	G	2: 32,942,226 (GRCm39)	V85A	probably damaging	Het
Gsdme	A	T	6: 50,223,108 (GRCm39)		probably null	Het
Gucy2c	A	T	6: 136,720,912 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,809,217 (GRCm39)	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530 (GRCm39)	Q384*	probably null	Het
Itga10	T	A	3: 96,564,793 (GRCm39)	M961K	probably benign	Het
Kcnk1	C	T	8: 126,751,967 (GRCm39)	T191I	probably benign	Het
Khdrbs1	G	A	4: 129,614,545 (GRCm39)	P336L	probably benign	Het
Klhdc2	T	A	12: 69,352,484 (GRCm39)		probably null	Het
Lipc	T	C	9: 70,705,649 (GRCm39)	H478R	probably benign	Het
Lrp12	A	T	15: 39,741,646 (GRCm39)	C356*	probably null	Het
Nf1	T	A	11: 79,303,513 (GRCm39)	C397S	probably damaging	Het
Nox3	A	G	17: 3,700,396 (GRCm39)	F439S	probably damaging	Het
Or12e9	T	A	2: 87,202,701 (GRCm39)	V275E	probably benign	Het
Or13a18	T	C	7: 140,190,622 (GRCm39)	V181A	probably damaging	Het
Or3a1b	T	C	11: 74,013,039 (GRCm39)	L308P	possibly damaging	Het
Or51b17	A	G	7: 103,542,937 (GRCm39)	W2R	probably benign	Het
Or7g29	T	G	9: 19,286,710 (GRCm39)	S156R	possibly damaging	Het
Or8b37	G	A	9: 37,959,111 (GRCm39)	V198I	probably benign	Het
Pcif1	T	C	2: 164,728,687 (GRCm39)	F288L	probably damaging	Het
Prxl2b	C	A	4: 154,982,585 (GRCm39)	R107L	probably damaging	Het
Skint7	G	T	4: 111,837,521 (GRCm39)	A100S	possibly damaging	Het
Ssu2	A	T	6: 112,351,807 (GRCm39)	L306*	probably null	Het
Tasp1	T	C	2: 139,899,341 (GRCm39)	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,595,955 (GRCm39)	D99E	probably benign	Het
Ube3b	A	G	5: 114,544,198 (GRCm39)		probably null	Het
Uox	A	G	3: 146,330,330 (GRCm39)	D162G	probably damaging	Het
Usp18	A	G	6: 121,239,651 (GRCm39)	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,685,886 (GRCm39)	N177S	probably benign	Het
Vwa2	T	A	19: 56,897,558 (GRCm39)	M621K	probably damaging	Het
Wdfy3	C	A	5: 102,046,418 (GRCm39)	D1797Y	probably damaging	Het
Ylpm1	A	T	12: 85,060,856 (GRCm39)		probably benign	Het
Zbtb9	G	A	17: 27,193,380 (GRCm39)	V262I	probably benign	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
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
R5414:Or4b12	UTSW	2	90,096,046 (GRCm39)	missense	probably benign	0.07
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'- TGGATTATGGAGTGAATGAGGCCCC -3'
(R):5'- TTTAGCAAAACAGCCTGAGCTTTTGG -3'

Sequencing Primer
(F):5'- CTGAGTTAGACAGCCCTTCAGAG -3'
(R):5'- ACACATGTGAGCTGACCCAA -3'

Posted On

2014-03-14