Mutagenetix > Incidental Mutation

Incidental Mutation 'R1651:Or4c118'

186367

Institutional Source

Beutler Lab

Gene Symbol

Or4c118

Ensembl Gene

ENSMUSG00000075100

Gene Name

olfactory receptor family 4 subfamily C member 118

Synonyms

MOR233-10, Olfr1223, GA_x6K02T2Q125-50623664-50622729

MMRRC Submission

039687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88974430-88981680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88975346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 7 (V7G)

Ref Sequence

ENSEMBL: ENSMUSP00000150550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]

AlphaFold

A0A1L1SU13

Predicted Effect

probably damaging
Transcript: ENSMUST00000099793
AA Change: V7G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: V7G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	2e-26	PFAM
Pfam:7tm_4	138	283	5.6e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111554
AA Change: V7G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: V7G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.1e-48	PFAM
Pfam:7tm_1	39	286	1.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217342
AA Change: V7G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.5244

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (66/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Acss1	A	T	2: 150,480,357 (GRCm39)	V238D	possibly damaging	Het
Adgrv1	T	C	13: 81,635,972 (GRCm39)	I3512M	probably benign	Het
Arhgap32	A	G	9: 32,171,096 (GRCm39)	Q1292R	probably damaging	Het
Bpnt2	A	G	4: 4,792,737 (GRCm39)	F123L	probably damaging	Het
Caskin1	C	T	17: 24,721,186 (GRCm39)	R509C	possibly damaging	Het
Cd47	T	C	16: 49,714,591 (GRCm39)	V147A	possibly damaging	Het
Cdc20b	T	A	13: 113,215,258 (GRCm39)	Y275*	probably null	Het
Chd4	A	G	6: 125,100,547 (GRCm39)	D1745G	possibly damaging	Het
Crmp1	T	A	5: 37,430,783 (GRCm39)	S250T	probably damaging	Het
Crybg2	A	G	4: 133,802,214 (GRCm39)	K1125E	probably benign	Het
Crybg2	C	A	4: 133,802,136 (GRCm39)	P1099T	possibly damaging	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Dicer1	T	C	12: 104,675,064 (GRCm39)	T733A	probably damaging	Het
Edar	A	G	10: 58,441,875 (GRCm39)	V339A	possibly damaging	Het
Efcab3	A	G	11: 104,611,492 (GRCm39)	R445G	probably benign	Het
Efcab6	A	G	15: 83,755,194 (GRCm39)	I1374T	possibly damaging	Het
Erbb2	G	A	11: 98,324,283 (GRCm39)	R757K	probably damaging	Het
Fam98a	A	G	17: 75,854,710 (GRCm39)	V33A	probably benign	Het
Farp2	T	C	1: 93,531,191 (GRCm39)		probably null	Het
Fcmr	A	G	1: 130,805,988 (GRCm39)	T315A	probably benign	Het
Gdf9	G	A	11: 53,324,576 (GRCm39)	R115Q	probably damaging	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
H2-M10.1	A	G	17: 36,636,648 (GRCm39)	V52A	probably damaging	Het
Hspg2	T	A	4: 137,260,748 (GRCm39)	C1582*	probably null	Het
Icam2	C	T	11: 106,268,782 (GRCm39)	V229M	probably damaging	Het
Itga7	C	T	10: 128,784,693 (GRCm39)	P735L	probably benign	Het
Kbtbd3	C	A	9: 4,330,589 (GRCm39)	P321Q	possibly damaging	Het
Kcnma1	T	A	14: 23,364,262 (GRCm39)	T997S	probably damaging	Het
Kifc5b	T	C	17: 27,144,504 (GRCm39)	F541S	probably damaging	Het
Klhdc9	C	A	1: 171,188,016 (GRCm39)	V72L	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lrrtm4	A	G	6: 79,999,511 (GRCm39)	T308A	probably benign	Het
Map1b	T	C	13: 99,569,091 (GRCm39)	E1210G	unknown	Het
Mocs3	A	G	2: 168,073,489 (GRCm39)	Y312C	probably damaging	Het
Mrps7	G	T	11: 115,495,581 (GRCm39)	E40*	probably null	Het
Msantd5f1	A	T	4: 73,605,621 (GRCm39)	N344I	possibly damaging	Het
Msln	T	C	17: 25,972,382 (GRCm39)	H50R	probably benign	Het
Myb	A	G	10: 21,002,097 (GRCm39)	F748S	probably damaging	Het
Myo10	C	A	15: 25,742,455 (GRCm39)	H590N	probably damaging	Het
Naip5	T	C	13: 100,358,419 (GRCm39)	E939G	probably benign	Het
Nbeal1	T	A	1: 60,239,278 (GRCm39)	V107E	probably damaging	Het
Nrcam	A	T	12: 44,623,462 (GRCm39)	N1011I	probably damaging	Het
Or14c44	A	G	7: 86,057,078 (GRCm39)		probably benign	Het
Or1ak2	T	C	2: 36,827,335 (GRCm39)	L68P	probably damaging	Het
Pcgf6	A	T	19: 47,037,441 (GRCm39)	C153S	probably damaging	Het
Phrf1	T	C	7: 140,817,434 (GRCm39)	V81A	probably benign	Het
Ppp4r4	A	G	12: 103,550,331 (GRCm39)	N36D	probably benign	Het
Prkch	A	G	12: 73,805,775 (GRCm39)	T517A	possibly damaging	Het
Rasal1	A	T	5: 120,790,910 (GRCm39)	K33*	probably null	Het
Rp1l1	G	A	14: 64,268,442 (GRCm39)	E1343K	probably damaging	Het
Serpinb6e	T	C	13: 34,020,406 (GRCm39)	D234G	probably benign	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Smyd3	T	G	1: 178,871,441 (GRCm39)	I313L	probably benign	Het
Tdrd9	C	A	12: 111,991,140 (GRCm39)	D543E	probably damaging	Het
Tet1	A	G	10: 62,715,453 (GRCm39)	L114P	probably damaging	Het
Tmprss11c	G	A	5: 86,387,283 (GRCm39)	P212S	probably damaging	Het
Tmx2	A	T	2: 84,506,461 (GRCm39)	M77K	probably damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Trappc12	C	T	12: 28,741,776 (GRCm39)	M711I	probably benign	Het
Trim2	A	G	3: 84,074,957 (GRCm39)		probably null	Het
Vmn2r18	A	G	5: 151,485,464 (GRCm39)	S677P	probably damaging	Het
Wdr7	T	A	18: 63,853,847 (GRCm39)	L60*	probably null	Het
Wdr93	T	C	7: 79,399,830 (GRCm39)	F140L	probably benign	Het
Zfp638	A	G	6: 83,931,719 (GRCm39)	T802A	probably benign	Het

Other mutations in Or4c118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Or4c118	APN	2	88,974,575 (GRCm39)	missense	possibly damaging	0.55
IGL01560:Or4c118	APN	2	88,974,947 (GRCm39)	missense	probably damaging	1.00
IGL01817:Or4c118	APN	2	88,974,702 (GRCm39)	missense	probably benign	0.01
IGL02669:Or4c118	APN	2	88,974,564 (GRCm39)	nonsense	probably null
IGL03270:Or4c118	APN	2	88,975,089 (GRCm39)	missense	probably damaging	0.98
R0062:Or4c118	UTSW	2	88,974,966 (GRCm39)	missense	possibly damaging	0.95
R0062:Or4c118	UTSW	2	88,974,966 (GRCm39)	missense	possibly damaging	0.95
R0304:Or4c118	UTSW	2	88,975,108 (GRCm39)	nonsense	probably null
R1971:Or4c118	UTSW	2	88,975,078 (GRCm39)	nonsense	probably null
R2006:Or4c118	UTSW	2	88,975,241 (GRCm39)	missense	probably benign	0.21
R2101:Or4c118	UTSW	2	88,975,301 (GRCm39)	missense	probably benign	0.03
R2410:Or4c118	UTSW	2	88,974,899 (GRCm39)	missense	possibly damaging	0.88
R3683:Or4c118	UTSW	2	88,975,364 (GRCm39)	start codon destroyed	probably null	1.00
R3685:Or4c118	UTSW	2	88,975,364 (GRCm39)	start codon destroyed	probably null	1.00
R3939:Or4c118	UTSW	2	88,974,474 (GRCm39)	nonsense	probably null
R6162:Or4c118	UTSW	2	88,975,114 (GRCm39)	missense	probably benign	0.00
R8431:Or4c118	UTSW	2	88,974,723 (GRCm39)	missense	probably benign	0.06
R8842:Or4c118	UTSW	2	88,975,074 (GRCm39)	missense	probably benign
R9631:Or4c118	UTSW	2	88,975,522 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCACCCCAGTGAAGAAGTGGAC -3'
(R):5'- AAAGTCATCCTGTGCCCTTTGGTC -3'

Sequencing Primer
(F):5'- CATTCAAAGGAGATGGTCTTCG -3'
(R):5'- TGGTCTGCGTCTCCAAAAAATC -3'

Posted On

2014-05-09