Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Or1e1c'

43662

Institutional Source

Beutler Lab

Gene Symbol

Or1e1c

Ensembl Gene

ENSMUSG00000063881

Gene Name

olfactory receptor family 1 subfamily E member 1C

Synonyms

GA_x6K02T2P1NL-3535075-3536028, MOR135-12, Olfr376

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73262072-73266530 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73266414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 283 (M283V)

Ref Sequence

ENSEMBL: ENSMUSP00000077977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078952] [ENSMUST00000120401] [ENSMUST00000170592]

AlphaFold

E9Q4M1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078952
AA Change: M283V

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: M283V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3e-59	PFAM
Pfam:7TM_GPCR_Srsx	41	311	7.4e-8	PFAM
Pfam:7tm_1	47	296	2.7e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120401
AA Change: M280V

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: M280V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	308	1.1e-7	PFAM
Pfam:7tm_1	44	293	7.2e-36	PFAM
Pfam:7tm_4	142	286	1.4e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170592
AA Change: M280V

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: M280V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	308	1.1e-7	PFAM
Pfam:7tm_1	44	293	7.2e-36	PFAM
Pfam:7tm_4	142	286	1.4e-46	PFAM

Meta Mutation Damage Score

0.2661

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Aldh3a1	G	A	11: 61,107,927 (GRCm39)	V324M	probably damaging	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Gnb3	G	A	6: 124,812,767 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het
Zfpm1	A	G	8: 123,061,227 (GRCm39)	Y264C	probably damaging	Het

Other mutations in Or1e1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Or1e1c	APN	11	73,265,833 (GRCm39)	missense	probably benign	0.03
IGL01462:Or1e1c	APN	11	73,265,578 (GRCm39)	start codon destroyed	probably null	0.02
IGL01725:Or1e1c	APN	11	73,265,982 (GRCm39)	missense	probably benign	0.39
IGL02225:Or1e1c	APN	11	73,265,904 (GRCm39)	missense	probably damaging	0.98
R0090:Or1e1c	UTSW	11	73,266,402 (GRCm39)	missense	probably benign	0.04
R0743:Or1e1c	UTSW	11	73,265,715 (GRCm39)	missense	probably benign	0.03
R0884:Or1e1c	UTSW	11	73,265,715 (GRCm39)	missense	probably benign	0.03
R1102:Or1e1c	UTSW	11	73,265,700 (GRCm39)	missense	probably benign	0.00
R1582:Or1e1c	UTSW	11	73,266,090 (GRCm39)	missense	probably damaging	1.00
R1765:Or1e1c	UTSW	11	73,266,170 (GRCm39)	missense	probably damaging	1.00
R1929:Or1e1c	UTSW	11	73,266,427 (GRCm39)	missense	probably damaging	1.00
R1941:Or1e1c	UTSW	11	73,266,447 (GRCm39)	missense	probably damaging	1.00
R4738:Or1e1c	UTSW	11	73,266,176 (GRCm39)	missense	possibly damaging	0.94
R4947:Or1e1c	UTSW	11	73,266,243 (GRCm39)	nonsense	probably null
R5837:Or1e1c	UTSW	11	73,266,474 (GRCm39)	missense	probably benign	0.02
R6440:Or1e1c	UTSW	11	73,266,173 (GRCm39)	missense	probably benign	0.06
R6736:Or1e1c	UTSW	11	73,266,402 (GRCm39)	missense	probably benign	0.18
R7254:Or1e1c	UTSW	11	73,266,201 (GRCm39)	missense	probably benign
R7354:Or1e1c	UTSW	11	73,266,201 (GRCm39)	missense	probably benign	0.01
R7437:Or1e1c	UTSW	11	73,265,844 (GRCm39)	missense	probably benign	0.02
R7918:Or1e1c	UTSW	11	73,265,923 (GRCm39)	missense	probably damaging	1.00
R8842:Or1e1c	UTSW	11	73,266,186 (GRCm39)	missense	probably benign
R8985:Or1e1c	UTSW	11	73,266,252 (GRCm39)	missense	possibly damaging	0.89
R9346:Or1e1c	UTSW	11	73,266,129 (GRCm39)	missense	probably benign	0.12
R9416:Or1e1c	UTSW	11	73,265,790 (GRCm39)	missense	probably damaging	0.98
R9683:Or1e1c	UTSW	11	73,265,811 (GRCm39)	missense	probably damaging	0.98
R9789:Or1e1c	UTSW	11	73,265,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTATGCACGAATTGTGTCCTCC -3'
(R):5'- TTCTGAGCCCTGCAAACACTGTCC -3'

Sequencing Primer
(F):5'- GAATTGTGTCCTCCATTCTCAAGG -3'
(R):5'- AGATGTGCTGTATCTATCACACC -3'

Posted On

2013-05-29