Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Or4c11'

695891

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

068944-MU

Accession Numbers

Essential gene?

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

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88694951-88695874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88695795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 282 (P282L)

Ref Sequence

ENSEMBL: ENSMUSP00000149929 (fasta)

Gene Model

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

AlphaFold

A2ATJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077302
AA Change: P282L

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076532
Gene: ENSMUSG00000062757
AA Change: P282L

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

possibly damaging
Transcript: ENSMUST00000216950
AA Change: P282L

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,278,157 (GRCm39)	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,541,829 (GRCm39)	T847I	possibly damaging	Het
Acox1	A	T	11: 116,089,173 (GRCm39)	H48Q	probably benign	Het
Adam9	A	G	8: 25,486,795 (GRCm39)	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,511,204 (GRCm39)	Y388H	probably damaging	Het
Arap1	A	T	7: 101,041,090 (GRCm39)	K593*	probably null	Het
Bicc1	G	A	10: 70,781,094 (GRCm39)	T661M	probably damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Celf1	T	A	2: 90,831,426 (GRCm39)	L85H	probably damaging	Het
Cep120	A	T	18: 53,852,318 (GRCm39)	M520K	probably benign	Het
Cfap91	A	G	16: 38,155,960 (GRCm39)	Y88H	possibly damaging	Het
Chd1l	C	T	3: 97,501,356 (GRCm39)	R230H	probably benign	Het
Cyp2c55	A	T	19: 38,995,571 (GRCm39)	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,545,609 (GRCm39)	H167L	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dock4	T	A	12: 40,754,337 (GRCm39)	I442N	probably damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,180,308 (GRCm39)	C1960R	probably damaging	Het
Gm13941	T	C	2: 110,936,324 (GRCm39)	S2G	unknown	Het
Gm37240	T	C	3: 84,417,248 (GRCm39)	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,531,283 (GRCm39)	I350V	unknown	Het
Gtf3c4	A	G	2: 28,724,661 (GRCm39)	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106 (GRCm39)	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,660,689 (GRCm39)	D28G	probably benign	Het
Intu	A	T	3: 40,645,133 (GRCm39)	D508V	probably damaging	Het
Kif28	A	T	1: 179,533,333 (GRCm39)	M604K	probably damaging	Het
Klra6	T	A	6: 129,993,687 (GRCm39)	I195F	possibly damaging	Het
Lhfpl6	G	A	3: 52,950,887 (GRCm39)	V54I	probably benign	Het
Lrpap1	T	C	5: 35,262,923 (GRCm39)	Y38C	probably damaging	Het
Map1b	T	A	13: 99,562,351 (GRCm39)	Q2453L	unknown	Het
Map1b	C	A	13: 99,568,816 (GRCm39)	E1302*	probably null	Het
Map7	C	T	10: 20,122,410 (GRCm39)	R159C	probably benign	Het
Mov10l1	C	T	15: 88,896,361 (GRCm39)	T735I	probably benign	Het
Nfasc	C	A	1: 132,562,544 (GRCm39)	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,839,969 (GRCm39)	V230A	probably benign	Het
Or7e166	T	A	9: 19,624,954 (GRCm39)	M277K	probably benign	Het
Or7e169	T	A	9: 19,757,504 (GRCm39)	N137I	possibly damaging	Het
Orm3	T	C	4: 63,274,809 (GRCm39)	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,631,852 (GRCm39)	V549E	probably damaging	Het
Pclo	T	A	5: 14,731,699 (GRCm39)	S274R		Het
Phactr1	A	G	13: 42,836,178 (GRCm39)	D2G	possibly damaging	Het
Phtf2	G	A	5: 21,008,190 (GRCm39)	R164*	probably null	Het
Prkcq	A	G	2: 11,231,716 (GRCm39)	D13G	probably damaging	Het
Proser1	A	T	3: 53,379,494 (GRCm39)	N156I	probably benign	Het
Prss51	T	C	14: 64,334,958 (GRCm39)	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,546,640 (GRCm39)	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,404,222 (GRCm39)	D681G	possibly damaging	Het
Rigi	T	A	4: 40,208,827 (GRCm39)	M762L	probably damaging	Het
Slc7a12	A	T	3: 14,564,360 (GRCm39)	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,235,312 (GRCm39)	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,057,897 (GRCm39)	A11E	probably benign	Het
Spag1	A	T	15: 36,216,399 (GRCm39)	Y526F	probably damaging	Het
Stim1	A	G	7: 102,084,626 (GRCm39)	H526R	probably benign	Het
Stx1b	T	C	7: 127,414,159 (GRCm39)	K69R	probably benign	Het
Tal1	T	C	4: 114,920,646 (GRCm39)	S107P	probably benign	Het
Tas2r130	T	C	6: 131,606,975 (GRCm39)	I273M	probably damaging	Het
Ttc24	A	T	3: 87,980,295 (GRCm39)	Y135*	probably null	Het
Ttn	G	A	2: 76,583,856 (GRCm39)	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,364,087 (GRCm39)	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwf	T	A	6: 125,542,806 (GRCm39)	I94N		Het
Zan	A	T	5: 137,422,333 (GRCm39)	S2762T	unknown	Het
Zbtb20	A	G	16: 43,430,764 (GRCm39)	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,259,374 (GRCm39)	Y1649H	probably benign	Het
Zfp397	A	T	18: 24,089,828 (GRCm39)	Q111L	probably damaging	Het
Zfp616	T	A	11: 73,975,825 (GRCm39)	I698N	probably 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
R2913: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
R9468:Or4c11	UTSW	2	88,695,795 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CGAAACCACAGTGCTGAAGG -3'
(R):5'- GACAGTATTGGACTATCTGCCAG -3'

Sequencing Primer
(F):5'- ACGGCCACCAACTACTTT -3'
(R):5'- GGACTATCTGCCAGATTATATTTAAT -3'

Posted On

2022-02-07