Mutagenetix > Incidental Mutations

Incidental Mutation 'R6122:Olfr114'

485802

Institutional Source

Beutler Lab

Gene Symbol

Olfr114

Ensembl Gene

ENSMUSG00000062629

Gene Name

olfactory receptor 114

Synonyms

MOR218-10, GA_x6K02T2PSCP-2049802-2048870

MMRRC Submission

044269-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37589233-37592743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37589926 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 142 (R142S)

Ref Sequence

ENSEMBL: ENSMUSP00000149735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076914] [ENSMUST00000214871] [ENSMUST00000216249]

Predicted Effect

probably benign
Transcript: ENSMUST00000076914
AA Change: R142S

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076181
Gene: ENSMUSG00000062629
AA Change: R142S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.7e-6	PFAM
Pfam:7tm_1	41	290	3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214871
AA Change: R142S

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216249
AA Change: R142S

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.2062

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,252	*301W	probably null	Het
Abat	A	G	16: 8,605,550	I236V	probably benign	Het
Abca8a	T	C	11: 110,070,423	T558A	probably benign	Het
Ace3	A	C	11: 105,994,938	M57L	probably benign	Het
Adgrg1	T	C	8: 95,002,501	S18P	probably benign	Het
Ahi1	A	G	10: 21,058,165	D60G	probably benign	Het
Ap4e1	T	A	2: 127,028,160		probably null	Het
Arnt2	C	A	7: 84,361,565	K34N	probably damaging	Het
Ascc3	T	A	10: 50,617,925	M152K	probably benign	Het
AW551984	A	T	9: 39,593,755	F480L	probably benign	Het
Blvrb	G	A	7: 27,459,348	A58T	possibly damaging	Het
Bpifa1	C	T	2: 154,143,972	T69I	probably benign	Het
Cacna1g	T	A	11: 94,430,171	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,412	I361V	probably benign	Het
Clca4b	T	A	3: 144,926,166	I193F	possibly damaging	Het
Crb1	A	T	1: 139,248,948	Y371*	probably null	Het
Cul9	T	C	17: 46,521,928	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,444,640	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,256,292	S780T	probably benign	Het
Fzd5	G	T	1: 64,735,656	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695	S340P	probably damaging	Het
Galnt7	T	C	8: 57,526,166	D641G	probably damaging	Het
Gm7133	A	G	1: 97,183,223		noncoding transcript	Het
Heatr5b	A	G	17: 78,813,173	L774P	possibly damaging	Het
Itch	T	A	2: 155,174,065	S157T	probably benign	Het
Itgam	A	C	7: 128,085,652	D398A	probably damaging	Het
Kalrn	G	T	16: 33,985,191	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,819,451	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,860,692		probably benign	Het
Krt2	G	C	15: 101,815,914	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Naf1	T	A	8: 66,883,444	I341K	probably damaging	Het
Nbea	G	T	3: 56,029,896	H765N	probably damaging	Het
Ncapd3	A	G	9: 27,063,982	I776V	probably benign	Het
Neo1	A	T	9: 58,917,008	D712E	probably benign	Het
Neu1	G	A	17: 34,934,754	V385I	probably benign	Het
Olfr575	C	A	7: 102,954,804	G273C	probably damaging	Het
Olfr575	A	G	7: 102,955,530	Y24H	probably benign	Het
Pgghg	A	C	7: 140,943,395	T196P	possibly damaging	Het
Pira2	A	T	7: 3,842,446	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,082,368	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509	N21K	probably damaging	Het
Prune1	T	C	3: 95,262,243	D216G	probably benign	Het
Ptpn23	G	T	9: 110,387,825		probably benign	Het
Ranbp2	T	A	10: 58,465,529	M668K	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpsa	G	T	9: 120,131,036	V222L	probably benign	Het
Sept2	A	G	1: 93,497,376	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,625,014	D260V	probably damaging	Het
Srrm2	G	T	17: 23,820,356	M2087I	possibly damaging	Het
Tg	T	C	15: 66,828,457	L88P	probably damaging	Het
Tns1	A	G	1: 73,952,419		probably null	Het
Topbp1	A	T	9: 103,346,961	D1429V	probably benign	Het
Tprg	A	G	16: 25,422,401		probably null	Het
Trit1	T	C	4: 123,039,468	I66T	possibly damaging	Het
Usf3	A	T	16: 44,217,307	I717L	probably damaging	Het

Other mutations in Olfr114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Olfr114	APN	17	37590072	missense	possibly damaging	0.93
IGL01624:Olfr114	APN	17	37589925	missense	probably benign	0.00
IGL02026:Olfr114	APN	17	37589407	utr 3 prime	probably benign
IGL02608:Olfr114	APN	17	37590219	missense	probably damaging	1.00
IGL02632:Olfr114	APN	17	37590341	missense	probably benign	0.00
IGL02990:Olfr114	APN	17	37589668	missense	probably benign	0.00
R0114:Olfr114	UTSW	17	37589415	makesense	probably null
R1156:Olfr114	UTSW	17	37589517	missense	possibly damaging	0.93
R1366:Olfr114	UTSW	17	37589764	missense	probably benign	0.03
R3413:Olfr114	UTSW	17	37589696	missense	probably benign	0.00
R3701:Olfr114	UTSW	17	37589826	nonsense	probably null
R6639:Olfr114	UTSW	17	37589931	missense	probably damaging	1.00
R7066:Olfr114	UTSW	17	37590143	missense	probably damaging	1.00
R7316:Olfr114	UTSW	17	37590135	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGGCATCCTGAGAACTGTG -3'
(R):5'- CCTCAGTATGTTGACAGTTCCC -3'

Sequencing Primer
(F):5'- GGCAAAACCTATTACTGACAGG -3'
(R):5'- ACAGTTCCCTGGCACGAAG -3'

Posted On

2017-08-16