Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Or4c118'

46600

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

038354-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88974430-88981680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88974966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 134 (I134V)

Ref Sequence

ENSEMBL: ENSMUSP00000097381 (fasta)

Gene Model

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

AlphaFold

A0A1L1SU13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099793
AA Change: I134V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: I134V

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

possibly damaging
Transcript: ENSMUST00000111554
AA Change: I134V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: I134V

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

possibly damaging
Transcript: ENSMUST00000217342
AA Change: I134V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.2558

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	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
R0304:Or4c118	UTSW	2	88,975,108 (GRCm39)	nonsense	probably null
R1651:Or4c118	UTSW	2	88,975,346 (GRCm39)	missense	probably damaging	1.00
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'- GAGCTTTACTCCGCCCTTCAGAAC -3'
(R):5'- TGGGACTTTCACAGAACCCAAAAGTG -3'

Sequencing Primer
(F):5'- TGATGCAGATAGAACCACTGTTG -3'
(R):5'- ACCTTGCAACTATTGGAGGC -3'

Posted On

2013-06-11