Mutagenetix > Incidental Mutation

Incidental Mutation 'R6961:Or4c115'

541744

Institutional Source

Beutler Lab

Gene Symbol

Or4c115

Ensembl Gene

ENSMUSG00000101480

Gene Name

olfactory receptor family 4 subfamily C member 115

Synonyms

Olfr1220, GA_x6K02T2Q125-50579531-50578596, MOR233-5

MMRRC Submission

045071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88927282-88928307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88928149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 41 (M41L)

Ref Sequence

ENSEMBL: ENSMUSP00000150812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099789] [ENSMUST00000099806] [ENSMUST00000213288]

AlphaFold

F7BL62

Predicted Effect

probably benign
Transcript: ENSMUST00000099789
AA Change: M41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: M41L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	315	4.2e-48	PFAM
Pfam:7tm_1	51	298	4.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099806
AA Change: M41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: M41L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-47	PFAM
Pfam:7tm_1	39	286	3.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213288
AA Change: M41L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,024,148 (GRCm39)	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 106,255,849 (GRCm39)	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,168,835 (GRCm39)	F23L	probably damaging	Het
Cd200l1	T	A	16: 45,264,366 (GRCm39)	Y64F	probably benign	Het
Cdh23	G	C	10: 60,485,893 (GRCm39)	L41V	probably benign	Het
Cep120	C	A	18: 53,836,277 (GRCm39)	E803*	probably null	Het
Clcn7	C	T	17: 25,376,188 (GRCm39)	P560S	probably damaging	Het
Cldn12	A	T	5: 5,557,707 (GRCm39)	V240D	probably damaging	Het
Clec1a	C	T	6: 129,406,946 (GRCm39)	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Crispld1	T	A	1: 17,832,365 (GRCm39)	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Fam186a	T	A	15: 99,838,082 (GRCm39)	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,748,740 (GRCm39)	F393S	probably damaging	Het
Fut1	A	T	7: 45,268,963 (GRCm39)	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,249,153 (GRCm39)	D655G	probably benign	Het
Gm29106	A	T	1: 118,128,128 (GRCm39)	K607*	probably null	Het
Gm57858	T	A	3: 36,104,766 (GRCm39)	I32F	possibly damaging	Het
Hmg20a	T	C	9: 56,396,012 (GRCm39)	V268A	probably benign	Het
Il2rb	T	A	15: 78,370,024 (GRCm39)	Y205F	probably damaging	Het
Ints4	A	G	7: 97,190,397 (GRCm39)	*965W	probably null	Het
Itsn2	T	A	12: 4,723,420 (GRCm39)	C1118*	probably null	Het
Jakmip1	T	C	5: 37,330,697 (GRCm39)	L459P	probably damaging	Het
Klhl8	T	C	5: 104,018,435 (GRCm39)	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,400,989 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,250,369 (GRCm39)	T79A	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Napa	C	T	7: 15,843,034 (GRCm39)	R53*	probably null	Het
Nudt21	A	C	8: 94,755,508 (GRCm39)	D133E	probably benign	Het
Or2y3	T	A	17: 38,393,096 (GRCm39)	I258F	probably damaging	Het
Or52b1	A	T	7: 104,978,913 (GRCm39)	I162K	probably damaging	Het
Or52s19	A	G	7: 103,007,789 (GRCm39)	V204A	possibly damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or6c7	T	C	10: 129,323,331 (GRCm39)	F151L	probably damaging	Het
Pate13	G	A	9: 35,819,740 (GRCm39)	M1I	probably null	Het
Pira13	T	C	7: 3,828,124 (GRCm39)	Y61C	probably damaging	Het
Pla2g4e	G	T	2: 120,004,851 (GRCm39)		probably null	Het
Ptbp1	T	C	10: 79,695,111 (GRCm39)		probably null	Het
Scfd2	A	C	5: 74,680,202 (GRCm39)	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,714,110 (GRCm39)	M712V	probably damaging	Het
Smg7	A	T	1: 152,717,334 (GRCm39)	L919*	probably null	Het
Sspo	T	A	6: 48,440,811 (GRCm39)	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,382,032 (GRCm39)	M165K	possibly damaging	Het
Tie1	C	T	4: 118,343,402 (GRCm39)	V154M	probably damaging	Het
Timm17a	A	G	1: 135,238,816 (GRCm39)		probably benign	Het
Tlr5	C	T	1: 182,801,076 (GRCm39)	R127*	probably null	Het
Ttc29	A	C	8: 79,003,545 (GRCm39)	I254L	possibly damaging	Het
Unc79	T	C	12: 103,079,174 (GRCm39)	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,488,646 (GRCm39)	Y584*	probably null	Het
Zbtb24	A	G	10: 41,331,171 (GRCm39)	E366G	probably damaging	Het

Other mutations in Or4c115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Or4c115	APN	2	88,927,888 (GRCm39)	missense	probably damaging	1.00
IGL02861:Or4c115	APN	2	88,927,801 (GRCm39)	missense	probably benign	0.38
IGL02990:Or4c115	APN	2	88,927,473 (GRCm39)	missense	possibly damaging	0.94
PIT4403001:Or4c115	UTSW	2	88,927,420 (GRCm39)	missense	probably benign	0.00
R0589:Or4c115	UTSW	2	88,927,606 (GRCm39)	missense	probably benign	0.01
R1518:Or4c115	UTSW	2	88,927,944 (GRCm39)	missense	probably benign	0.00
R1573:Or4c115	UTSW	2	88,928,064 (GRCm39)	missense	probably damaging	1.00
R1800:Or4c115	UTSW	2	88,928,050 (GRCm39)	missense	probably benign	0.00
R1908:Or4c115	UTSW	2	88,927,888 (GRCm39)	missense	probably damaging	1.00
R3409:Or4c115	UTSW	2	88,927,668 (GRCm39)	missense	possibly damaging	0.74
R4678:Or4c115	UTSW	2	88,927,860 (GRCm39)	missense	probably benign	0.00
R5856:Or4c115	UTSW	2	88,928,254 (GRCm39)	missense	probably benign
R5888:Or4c115	UTSW	2	88,928,269 (GRCm39)	start codon destroyed	probably damaging	1.00
R7197:Or4c115	UTSW	2	88,927,626 (GRCm39)	missense	probably benign	0.03
R7455:Or4c115	UTSW	2	88,927,434 (GRCm39)	missense	probably damaging	1.00
R7894:Or4c115	UTSW	2	88,927,932 (GRCm39)	missense	possibly damaging	0.90
R8008:Or4c115	UTSW	2	88,928,059 (GRCm39)	missense	probably benign	0.35
R8139:Or4c115	UTSW	2	88,928,187 (GRCm39)	missense	probably benign	0.02
R8971:Or4c115	UTSW	2	88,927,891 (GRCm39)	nonsense	probably null
R9068:Or4c115	UTSW	2	88,927,369 (GRCm39)	missense	probably benign	0.00
R9290:Or4c115	UTSW	2	88,928,076 (GRCm39)	missense	probably damaging	1.00
R9310:Or4c115	UTSW	2	88,928,257 (GRCm39)	missense	probably damaging	1.00
R9717:Or4c115	UTSW	2	88,927,573 (GRCm39)	missense	probably benign	0.00
X0019:Or4c115	UTSW	2	88,928,240 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTCATGCAGCCTTCAAAG -3'
(R):5'- GGCACTTCGAGAGTAAACTATCTC -3'

Sequencing Primer
(F):5'- CAAAGGAGATGGTCTTCCTCTCATAG -3'
(R):5'- CTCTAACCCGATTTAGAGGAGATAC -3'

Posted On

2018-11-28