Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Or4c107'

384428

Institutional Source

Beutler Lab

Gene Symbol

Or4c107

Ensembl Gene

ENSMUSG00000048226

Gene Name

olfactory receptor family 4 subfamily C member 107

Synonyms

Olfr1212, MOR233-17, GA_x6K02T2Q125-50437014-50437949, MOR233-20

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88788812-88789747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88788863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 18 (N18Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055895] [ENSMUST00000215781]

AlphaFold

Q7TR08

Predicted Effect

probably damaging
Transcript: ENSMUST00000055895
AA Change: N18Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052837
Gene: ENSMUSG00000048226
AA Change: N18Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.9e-46	PFAM
Pfam:7tm_1	39	286	7.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215781
AA Change: N18Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Gzmc	G	T	14: 56,469,826 (GRCm39)	P158Q	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Prdx1	T	C	4: 116,549,128 (GRCm39)		probably null	Het
Rbfox1	C	T	16: 7,111,952 (GRCm39)	R173C	probably damaging	Het
Rbp3	T	A	14: 33,676,427 (GRCm39)	V125D	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zfp456	T	C	13: 67,514,995 (GRCm39)	E237G	probably benign	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	possibly damaging	Het

Other mutations in Or4c107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Or4c107	APN	2	88,789,110 (GRCm39)	missense	probably damaging	0.98
IGL01398:Or4c107	APN	2	88,789,193 (GRCm39)	missense	probably damaging	1.00
IGL01537:Or4c107	APN	2	88,788,885 (GRCm39)	missense	probably benign	0.00
IGL02197:Or4c107	APN	2	88,789,028 (GRCm39)	missense	probably benign	0.05
IGL02557:Or4c107	APN	2	88,789,025 (GRCm39)	missense	probably benign	0.00
R0276:Or4c107	UTSW	2	88,789,099 (GRCm39)	nonsense	probably null
R0568:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R0699:Or4c107	UTSW	2	88,788,960 (GRCm39)	missense	probably benign	0.31
R1101:Or4c107	UTSW	2	88,789,328 (GRCm39)	missense	possibly damaging	0.60
R1205:Or4c107	UTSW	2	88,788,932 (GRCm39)	missense	probably benign	0.00
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1845:Or4c107	UTSW	2	88,789,211 (GRCm39)	missense	probably damaging	0.99
R2031:Or4c107	UTSW	2	88,789,643 (GRCm39)	missense	probably benign	0.19
R2418:Or4c107	UTSW	2	88,789,380 (GRCm39)	missense	probably benign	0.01
R2419:Or4c107	UTSW	2	88,789,380 (GRCm39)	missense	probably benign	0.01
R3781:Or4c107	UTSW	2	88,789,091 (GRCm39)	nonsense	probably null
R4049:Or4c107	UTSW	2	88,789,617 (GRCm39)	missense	probably benign	0.09
R4440:Or4c107	UTSW	2	88,789,685 (GRCm39)	missense	probably benign	0.22
R4583:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4646:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4648:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4674:Or4c107	UTSW	2	88,789,216 (GRCm39)	missense	probably damaging	0.98
R4851:Or4c107	UTSW	2	88,788,930 (GRCm39)	missense	probably damaging	1.00
R5610:Or4c107	UTSW	2	88,789,170 (GRCm39)	missense	probably damaging	1.00
R5805:Or4c107	UTSW	2	88,788,985 (GRCm39)	missense	possibly damaging	0.50
R5887:Or4c107	UTSW	2	88,789,098 (GRCm39)	missense	possibly damaging	0.60
R6023:Or4c107	UTSW	2	88,789,059 (GRCm39)	missense	possibly damaging	0.76
R6118:Or4c107	UTSW	2	88,789,462 (GRCm39)	nonsense	probably null
R7490:Or4c107	UTSW	2	88,789,392 (GRCm39)	missense	probably benign	0.00
R7542:Or4c107	UTSW	2	88,789,119 (GRCm39)	missense	probably benign	0.01
R7612:Or4c107	UTSW	2	88,788,849 (GRCm39)	missense	probably damaging	1.00
R7972:Or4c107	UTSW	2	88,789,177 (GRCm39)	nonsense	probably null
R8422:Or4c107	UTSW	2	88,789,341 (GRCm39)	missense	probably benign	0.05
R9111:Or4c107	UTSW	2	88,789,055 (GRCm39)	missense	probably benign	0.00
Z1177:Or4c107	UTSW	2	88,789,721 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTTGCATATCAGTACACATGTCTG -3'
(R):5'- ACTGAAGTAATGCATGCATCCAGG -3'

Sequencing Primer
(F):5'- CAGAGTAGAGACAATGTTGTTCCTGC -3'
(R):5'- TCCAGGAAGGACAGAAATGCC -3'

Posted On

2016-04-27