Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4466001:Or4b12'

555762

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

Accession Numbers

Essential gene?

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

Stock #

PIT4466001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90095855-90096772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90096639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 45 (V45E)

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: V45E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: V45E

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: V45E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Adamts1	C	A	16: 85,593,579 (GRCm39)	G719*	probably null	Het
Ano5	G	T	7: 51,194,599 (GRCm39)	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
AU021092	T	A	16: 5,038,253 (GRCm39)	S85C	probably damaging	Het
Capn5	T	C	7: 97,773,195 (GRCm39)	D603G	probably benign	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cep112	A	G	11: 108,410,722 (GRCm39)	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cntnap1	T	C	11: 101,068,131 (GRCm39)	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,046,064 (GRCm39)	D84G	probably damaging	Het
Ddx47	T	C	6: 134,992,803 (GRCm39)	I154T	probably benign	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Dnah6	A	G	6: 73,185,624 (GRCm39)	L99P	probably benign	Het
Dzank1	A	G	2: 144,325,293 (GRCm39)	I558T	probably benign	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Fndc1	A	G	17: 7,969,206 (GRCm39)	L1553P	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gm3099	A	G	14: 15,346,517 (GRCm39)	M128V	probably benign	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Hck	C	T	2: 152,966,191 (GRCm39)	T55M	probably damaging	Het
Hectd4	T	C	5: 121,471,123 (GRCm39)		probably null	Het
Ica1l	C	T	1: 60,054,995 (GRCm39)		probably null	Het
Ilf3	T	C	9: 21,314,662 (GRCm39)	Y765H	unknown	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,748,056 (GRCm39)	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541 (GRCm39)	D498N	probably benign	Het
Naaladl1	A	T	19: 6,164,663 (GRCm39)	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,247,577 (GRCm39)	I1909N	probably benign	Het
Negr1	A	G	3: 156,565,235 (GRCm39)	D107G	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Nmnat3	T	G	9: 98,292,306 (GRCm39)	F184V	probably benign	Het
Or5p81	T	C	7: 108,266,743 (GRCm39)	V40A	possibly damaging	Het
Or6c76	C	T	10: 129,612,142 (GRCm39)	R120C	probably benign	Het
Or7a42	C	A	10: 78,791,676 (GRCm39)	F212L	probably benign	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pgm5	T	G	19: 24,801,693 (GRCm39)	Q178H	probably damaging	Het
Phrf1	C	T	7: 140,838,725 (GRCm39)	T640M	unknown	Het
Pramel34	A	C	5: 93,784,147 (GRCm39)	L439R	probably damaging	Het
Psg18	T	G	7: 18,083,241 (GRCm39)	T305P	probably benign	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,109,895 (GRCm39)	P68T	probably damaging	Het
Smim6	T	C	11: 115,804,371 (GRCm39)	F53L	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trrap	T	A	5: 144,765,410 (GRCm39)	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197 (GRCm39)	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,006,818 (GRCm39)	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,240,421 (GRCm39)	F93L	probably damaging	Het
Vmn1r88	A	G	7: 12,912,403 (GRCm39)	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,784,343 (GRCm39)	A735T	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
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
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'- GGCCATCATCACTAGCAAAATG -3'
(R):5'- CTTGTGCTGCAATGCTTTGAC -3'

Sequencing Primer
(F):5'- GCCATCATCACTAGCAAAATGATTTC -3'
(R):5'- TTTTCAGCTCTCCCATTATCTGATG -3'

Posted On

2019-06-07