Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Or4c11'

254733

Institutional Source

Beutler Lab

Gene Symbol

Or4c11

Ensembl Gene

ENSMUSG00000062757

Gene Name

olfactory receptor family 4 subfamily C member 11

Synonyms

GA_x6K02T2Q125-50339974-50340609, Olfr1207, Olfr1206, MOR230-3, GA_x6K02T2Q125-50338497-50339264

MMRRC Submission

040500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88694951-88695874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88695458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 170 (N170Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077302] [ENSMUST00000216950]

AlphaFold

A2ATJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000077302
AA Change: N170Y

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076532
Gene: ENSMUSG00000062757
AA Change: N170Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.2e-48	PFAM
Pfam:7tm_1	39	285	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216950
AA Change: N170Y

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

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
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Col1a2	C	T	6: 4,519,923 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Crocc	C	T	4: 140,747,661 (GRCm39)	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk3	T	A	7: 126,359,978 (GRCm39)	C19*	probably null	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,874,769 (GRCm39)	E922G	possibly damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly damaging	Het

Other mutations in Or4c11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Or4c11	APN	2	88,695,864 (GRCm39)	missense	probably benign	0.00
IGL01415:Or4c11	APN	2	88,695,864 (GRCm39)	missense	probably benign	0.00
IGL01783:Or4c11	APN	2	88,695,186 (GRCm39)	missense	probably damaging	0.98
PIT4812001:Or4c11	UTSW	2	88,695,314 (GRCm39)	missense	probably benign	0.27
R0437:Or4c11	UTSW	2	88,695,229 (GRCm39)	missense	probably benign	0.01
R0561:Or4c11	UTSW	2	88,695,024 (GRCm39)	missense	possibly damaging	0.68
R0669:Or4c11	UTSW	2	88,695,272 (GRCm39)	missense	probably benign
R0835:Or4c11	UTSW	2	88,695,345 (GRCm39)	missense	probably benign
R0987:Or4c11	UTSW	2	88,695,527 (GRCm39)	missense	probably benign	0.00
R1271:Or4c11	UTSW	2	88,695,475 (GRCm39)	nonsense	probably null
R1386:Or4c11	UTSW	2	88,695,697 (GRCm39)	missense	probably benign	0.14
R1618:Or4c11	UTSW	2	88,695,871 (GRCm39)	splice site	probably null
R1935:Or4c11	UTSW	2	88,695,524 (GRCm39)	missense	probably benign
R2098:Or4c11	UTSW	2	88,695,215 (GRCm39)	missense	probably benign	0.43
R2112:Or4c11	UTSW	2	88,695,545 (GRCm39)	missense	possibly damaging	0.67
R2157:Or4c11	UTSW	2	88,695,213 (GRCm39)	missense	probably benign
R2912:Or4c11	UTSW	2	88,695,458 (GRCm39)	missense	probably benign	0.17
R4583:Or4c11	UTSW	2	88,695,838 (GRCm39)	missense	probably benign	0.07
R4631:Or4c11	UTSW	2	88,695,174 (GRCm39)	missense	probably benign	0.00
R7707:Or4c11	UTSW	2	88,695,153 (GRCm39)	missense	possibly damaging	0.78
R8559:Or4c11	UTSW	2	88,695,527 (GRCm39)	missense	probably benign	0.00
R9163:Or4c11	UTSW	2	88,695,795 (GRCm39)	missense	possibly damaging	0.63
R9164:Or4c11	UTSW	2	88,695,795 (GRCm39)	missense	possibly damaging	0.63
R9468:Or4c11	UTSW	2	88,695,795 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ATGACACAAGTCTTTGCTCTCC -3'
(R):5'- TTCAGCACTGTGGTTTCGC -3'

Sequencing Primer
(F):5'- CCATTTATTTGGCTGCATGGAGATC -3'
(R):5'- TTTCGCAGAGAGTGTAAGATGAC -3'

Posted On

2014-12-29