Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Or4c12'

405128

Institutional Source

Beutler Lab

Gene Symbol

Or4c12

Ensembl Gene

ENSMUSG00000068806

Gene Name

olfactory receptor family 4 subfamily C member 12

Synonyms

MOR232-9, Olfr1259, GA_x6K02T2Q125-51376062-51375133

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89773528-89774457 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89773780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 226 (Y226*)

Ref Sequence

ENSEMBL: ENSMUSP00000149652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]

AlphaFold

Q8VEZ1

Predicted Effect

probably null
Transcript: ENSMUST00000090695
AA Change: Y226*

SMART Domains

Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: Y226*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	8.9e-45	PFAM
Pfam:7tm_1	39	285	5.5e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214846
AA Change: Y226*

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Or4c12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Or4c12	APN	2	89,773,604 (GRCm39)	missense	probably damaging	0.96
IGL01446:Or4c12	APN	2	89,774,282 (GRCm39)	missense	probably damaging	0.99
IGL01830:Or4c12	APN	2	89,773,775 (GRCm39)	missense	probably benign	0.03
IGL02160:Or4c12	APN	2	89,774,149 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Or4c12	UTSW	2	89,774,087 (GRCm39)	missense	probably damaging	1.00
R0366:Or4c12	UTSW	2	89,774,162 (GRCm39)	missense	possibly damaging	0.89
R0550:Or4c12	UTSW	2	89,773,733 (GRCm39)	missense	probably damaging	0.99
R0587:Or4c12	UTSW	2	89,773,736 (GRCm39)	missense	probably damaging	1.00
R1383:Or4c12	UTSW	2	89,773,895 (GRCm39)	missense	probably benign	0.12
R1400:Or4c12	UTSW	2	89,773,886 (GRCm39)	missense	possibly damaging	0.82
R1851:Or4c12	UTSW	2	89,774,158 (GRCm39)	nonsense	probably null
R1953:Or4c12	UTSW	2	89,774,267 (GRCm39)	missense	probably damaging	1.00
R2330:Or4c12	UTSW	2	89,774,297 (GRCm39)	missense	probably benign
R3897:Or4c12	UTSW	2	89,774,153 (GRCm39)	missense	probably benign	0.24
R3955:Or4c12	UTSW	2	89,774,172 (GRCm39)	missense	possibly damaging	0.90
R4687:Or4c12	UTSW	2	89,774,213 (GRCm39)	missense	probably damaging	0.98
R4976:Or4c12	UTSW	2	89,774,147 (GRCm39)	missense	possibly damaging	0.77
R5119:Or4c12	UTSW	2	89,774,147 (GRCm39)	missense	possibly damaging	0.77
R5415:Or4c12	UTSW	2	89,773,731 (GRCm39)	missense	probably benign	0.25
R5546:Or4c12	UTSW	2	89,773,929 (GRCm39)	missense	probably damaging	1.00
R5588:Or4c12	UTSW	2	89,774,136 (GRCm39)	missense	probably benign	0.00
R6633:Or4c12	UTSW	2	89,773,710 (GRCm39)	missense	probably benign
R6858:Or4c12	UTSW	2	89,774,087 (GRCm39)	missense	probably damaging	0.99
R7294:Or4c12	UTSW	2	89,774,068 (GRCm39)	nonsense	probably null
R8261:Or4c12	UTSW	2	89,773,716 (GRCm39)	missense	probably benign	0.00
R8319:Or4c12	UTSW	2	89,774,024 (GRCm39)	missense	possibly damaging	0.87
R8771:Or4c12	UTSW	2	89,773,565 (GRCm39)	missense	probably benign	0.01
R8817:Or4c12	UTSW	2	89,773,790 (GRCm39)	missense	probably damaging	1.00
R9208:Or4c12	UTSW	2	89,773,725 (GRCm39)	missense	possibly damaging	0.88
R9390:Or4c12	UTSW	2	89,773,569 (GRCm39)	missense	probably benign	0.10
R9402:Or4c12	UTSW	2	89,774,284 (GRCm39)	nonsense	probably null
R9731:Or4c12	UTSW	2	89,774,316 (GRCm39)	missense	possibly damaging	0.67
Z1088:Or4c12	UTSW	2	89,774,114 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGATTCAGCATAGGAGCCAC -3'
(R):5'- GAGGATTTCTCCATGCAACTATTC -3'

Sequencing Primer
(F):5'- GATTCAGCATAGGAGCCACCATAG -3'
(R):5'- TCTGTGGCCCCAACATCATAG -3'

Posted On

2016-07-22