Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Or4c12b'

418125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c12b

Ensembl Gene

ENSMUSG00000045148

Gene Name

olfactory receptor family 4 subfamily C member 12B

Synonyms

MOR232-4, GA_x6K02T2Q125-51257221-51258135, Olfr1255

Accession Numbers

Essential gene?

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

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

89646672-89647604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89647015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 109 (E109G)

Ref Sequence

ENSEMBL: ENSMUSP00000150299 (fasta)

Gene Model

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

AlphaFold

A2AUA4

Predicted Effect

probably benign
Transcript: ENSMUST00000057369
AA Change: E115G

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060602
Gene: ENSMUSG00000045148
AA Change: E115G

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: E109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly 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
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
R8458:Or4c12b	UTSW	2	89,647,494 (GRCm39)	missense	probably damaging	0.98
R9513:Or4c12b	UTSW	2	89,647,553 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02