Mutagenetix > Incidental Mutation

Incidental Mutation 'R5670:Or4b12'

442552

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

043313-MU

Accession Numbers

Essential gene?

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

Stock #

R5670 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90095855-90096772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90096308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 155 (I155M)

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: I155M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: I155M

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: I155M

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217396

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Ahsg	T	A	16: 22,716,913 (GRCm39)	N158K	probably benign	Het
Arhgef10	T	C	8: 15,004,774 (GRCm39)	M430T	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Copg1	C	T	6: 87,889,217 (GRCm39)	T853M	probably damaging	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dip2b	A	G	15: 100,087,985 (GRCm39)	D973G	possibly damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
Fer1l6	C	T	15: 58,494,331 (GRCm39)	P1175S	probably benign	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Igkv8-18	C	T	6: 70,333,133 (GRCm39)	T25I	probably benign	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Mfsd8	A	T	3: 40,776,484 (GRCm39)	N389K	probably benign	Het
Mttp	A	T	3: 137,830,874 (GRCm39)	V65D	probably damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or1l4	T	A	2: 37,092,006 (GRCm39)	V251D	probably benign	Het
Or2y1d	T	G	11: 49,322,035 (GRCm39)	L244R	probably damaging	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pi16	C	T	17: 29,545,870 (GRCm39)	T216I	probably damaging	Het
Plekha2	C	A	8: 25,549,254 (GRCm39)	A177S	probably benign	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Prss16	C	T	13: 22,187,221 (GRCm39)	V450I	possibly damaging	Het
Rab3gap2	T	A	1: 185,009,402 (GRCm39)	L1086H	probably damaging	Het
Rab3gap2	C	T	1: 184,954,096 (GRCm39)	P56L	probably benign	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	A	G	11: 119,325,512 (GRCm39)		probably null	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tlx2	G	A	6: 83,046,807 (GRCm39)	A85V	possibly damaging	Het
Tm4sf1	A	T	3: 57,200,508 (GRCm39)	F65I	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Tpte	C	T	8: 22,817,764 (GRCm39)	S250F	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vps54	T	A	11: 21,214,864 (GRCm39)	I112N	probably damaging	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	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
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
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
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'- CCTCAAGCTGATTAGGATGACAG -3'
(R):5'- CATCTCTCTGAAGGGCTGTC -3'

Sequencing Primer
(F):5'- TGACAGCATAGGAGGACACC -3'
(R):5'- CTCTGAAGGGCTGTCTAACTCAG -3'

Posted On

2016-11-09