Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Or1e1c'

564147

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

045315-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73262072-73266530 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73266201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 212 (I212V)

Ref Sequence

ENSEMBL: ENSMUSP00000077977 (fasta)

Gene Model

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

AlphaFold

E9Q4M1

Predicted Effect

probably benign
Transcript: ENSMUST00000078952
AA Change: I212V

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

SMART Domains

Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: I212V

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

probably benign
Transcript: ENSMUST00000120401
AA Change: I209V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: I209V

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

probably benign
Transcript: ENSMUST00000170592
AA Change: I209V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: I209V

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

0.0777

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	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
R0006:Or1e1c	UTSW	11	73,266,414 (GRCm39)	missense	possibly damaging	0.65
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
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'- ACCGCTATGTGGCTATCTGC -3'
(R):5'- TGGACATAAGTACAGACCAATGAC -3'

Sequencing Primer
(F):5'- ATGAGCATCATGAGCCCCAGG -3'
(R):5'- GTACAGACCAATGACTGTTCCATAG -3'

Posted On

2019-06-26