Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Olfr694'

359524

Institutional Source

Beutler Lab

Gene Symbol

Olfr694

Ensembl Gene

ENSMUSG00000064223

Gene Name

olfactory receptor 694

Synonyms

MOR283-9, GA_x6K02T2PBJ9-9067220-9066273

MMRRC Submission

042025-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106684980-106691814 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 106689144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 196 (E196*)

Ref Sequence

ENSEMBL: ENSMUSP00000151027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052535] [ENSMUST00000082091] [ENSMUST00000216118] [ENSMUST00000216895]

AlphaFold

K7N641

Predicted Effect

probably null
Transcript: ENSMUST00000052535
AA Change: E196*

SMART Domains

Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: E196*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.1e-43	PFAM
Pfam:7tm_1	41	290	9.1e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000082091
AA Change: E196*

SMART Domains

Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: E196*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.6e-6	PFAM
Pfam:7tm_1	41	290	7.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208331

Predicted Effect

probably null
Transcript: ENSMUST00000216118
AA Change: E196*

Predicted Effect

probably null
Transcript: ENSMUST00000216895
AA Change: E196*

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,969,334		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,567,506		probably benign	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abcc5	T	A	16: 20,399,626	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,812,020	K155N	probably damaging	Het
Acot3	T	C	12: 84,058,590	I277T	probably benign	Het
Ankrd45	G	A	1: 161,155,390	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,697,999	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,982,845	N677T	probably benign	Het
Atg13	A	G	2: 91,684,695	S254P	probably damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Avl9	T	A	6: 56,726,309	V120D	probably damaging	Het
Cc2d1b	T	C	4: 108,628,042	V527A	probably benign	Het
Ccnl1	A	G	3: 65,946,671		probably benign	Het
Cenpl	T	A	1: 161,083,267	D261E	probably damaging	Het
Cep192	T	G	18: 67,851,732	I1604M	probably benign	Het
Cep95	A	G	11: 106,815,734	I573V	probably benign	Het
Cfap100	A	G	6: 90,412,843		probably null	Het
Cmc1	T	A	9: 118,075,177	M49L	probably benign	Het
Cyfip2	G	T	11: 46,279,993	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,356,675	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,196,036	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,460,976	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,207,777	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,533,339	L119Q	probably damaging	Het
Dnah3	T	C	7: 120,077,946	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,275,189	N432Y	possibly damaging	Het
Dst	T	A	1: 34,191,147	I2785N	probably benign	Het
Dynap	A	T	18: 70,241,225	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 138,183,199	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Enpp1	A	T	10: 24,679,248	C67S	probably null	Het
Enpp5	C	T	17: 44,081,136	T152I	probably damaging	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Erc2	T	G	14: 27,776,881	L238R	probably damaging	Het
Eya3	T	A	4: 132,721,387		probably benign	Het
Farp1	T	C	14: 121,238,787	F339L	probably damaging	Het
Fsip2	A	C	2: 82,975,353	D672A	possibly damaging	Het
Gap43	G	T	16: 42,292,218	P60Q	probably benign	Het
Gatsl3	A	G	11: 4,219,004	E57G	possibly damaging	Het
Gpr37l1	T	A	1: 135,167,045	I154F	probably damaging	Het
Greb1	A	G	12: 16,696,328	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,348,442	M3167L	probably benign	Het
Hps3	C	T	3: 20,030,410		probably null	Het
Hps5	A	G	7: 46,786,589	C178R	probably benign	Het
Hspg2	T	A	4: 137,570,073		probably benign	Het
Impdh2-ps	A	G	8: 100,031,207		noncoding transcript	Het
Josd2	T	A	7: 44,471,254	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,292,097	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,413,080	V323M	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Myo18a	T	C	11: 77,823,323	Y748H	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nek1	A	T	8: 61,098,511	N853I	probably benign	Het
Npnt	T	G	3: 132,904,691	T272P	possibly damaging	Het
Olfr11	T	A	13: 21,639,170	M118L	possibly damaging	Het
Olfr1390	G	A	11: 49,341,321	G263D	probably benign	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Olfr668	G	A	7: 104,924,810	T318I	possibly damaging	Het
Olfr76	A	G	19: 12,119,870	Y269H	possibly damaging	Het
Pappa2	T	G	1: 158,957,002	D146A	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pcsk9	C	T	4: 106,447,156	G496R	probably damaging	Het
Pes1	A	G	11: 3,964,058	K8E	probably damaging	Het
Phlpp2	G	A	8: 109,940,420	G1194S	probably damaging	Het
Pkn1	A	C	8: 83,671,749	V763G	probably damaging	Het
Pkp2	C	A	16: 16,230,724	A331E	probably damaging	Het
Plb1	T	A	5: 32,349,679		probably null	Het
Plxna1	A	T	6: 89,332,675		probably null	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Prkag3	T	C	1: 74,740,705	*490W	probably null	Het
Prl2c1	T	C	13: 27,857,678	C228R	probably damaging	Het
Pus7l	T	C	15: 94,540,710	S85G	probably benign	Het
Rfc3	A	C	5: 151,644,776		probably benign	Het
Riox2	A	G	16: 59,489,369	N362S	probably benign	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Scaper	A	T	9: 55,743,648	D904E	probably damaging	Het
Scn11a	T	C	9: 119,754,561	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,430,289	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,434,997	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,209,917	M66K	probably damaging	Het
Styk1	T	G	6: 131,300,466	E404A	probably damaging	Het
Synj1	T	A	16: 90,955,419	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,120,111		probably null	Het
Tmem87a	A	G	2: 120,360,037		probably null	Het
Trappc9	T	G	15: 72,937,060	Y718S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,327,195	G397R	probably damaging	Het
Wdr33	T	A	18: 31,886,086	M454K	probably benign	Het
Wdtc1	G	T	4: 133,301,799	N325K	possibly damaging	Het
Whrn	T	C	4: 63,418,165	H720R	probably damaging	Het
Xirp2	A	T	2: 67,519,265	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 11,141,709	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,674,498	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,805,329	T901M	probably damaging	Het

Other mutations in Olfr694

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Olfr694	APN	7	106689531	missense	probably damaging	1.00
IGL01759:Olfr694	APN	7	106689333	missense	probably benign	0.04
IGL02435:Olfr694	APN	7	106689503	missense	probably benign	0.26
IGL02569:Olfr694	APN	7	106689642	missense	probably benign	0.19
IGL02611:Olfr694	APN	7	106688789	missense	probably benign	0.11
IGL02726:Olfr694	APN	7	106689370	nonsense	probably null
IGL02944:Olfr694	APN	7	106689269	missense	probably damaging	1.00
IGL03155:Olfr694	APN	7	106689239	missense	probably damaging	1.00
R0238:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0238:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0239:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0239:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0609:Olfr694	UTSW	7	106688998	missense	probably damaging	1.00
R0655:Olfr694	UTSW	7	106689425	missense	probably damaging	1.00
R1562:Olfr694	UTSW	7	106688980	missense	probably benign	0.01
R1641:Olfr694	UTSW	7	106689711	missense	probably benign	0.36
R2144:Olfr694	UTSW	7	106688957	missense	probably damaging	0.99
R4416:Olfr694	UTSW	7	106689011	missense	probably benign	0.07
R4444:Olfr694	UTSW	7	106689146	missense	possibly damaging	0.60
R4445:Olfr694	UTSW	7	106689146	missense	possibly damaging	0.60
R4567:Olfr694	UTSW	7	106689213	nonsense	probably null
R4778:Olfr694	UTSW	7	106689667	missense	probably damaging	0.97
R4908:Olfr694	UTSW	7	106689533	missense	probably damaging	1.00
R5244:Olfr694	UTSW	7	106689189	missense	probably benign	0.12
R5944:Olfr694	UTSW	7	106689646	nonsense	probably null
R6260:Olfr694	UTSW	7	106688872	missense	probably damaging	1.00
R6573:Olfr694	UTSW	7	106689463	missense	probably benign	0.00
R6901:Olfr694	UTSW	7	106689189	missense	probably benign	0.03
R7230:Olfr694	UTSW	7	106689524	missense	possibly damaging	0.94
R7420:Olfr694	UTSW	7	106689020	missense	possibly damaging	0.74
R7426:Olfr694	UTSW	7	106689210	missense	possibly damaging	0.88
R8400:Olfr694	UTSW	7	106689669	missense	probably benign	0.25
R8879:Olfr694	UTSW	7	106689089	missense	probably damaging	1.00
R9284:Olfr694	UTSW	7	106689209	missense	possibly damaging	0.88
R9304:Olfr694	UTSW	7	106689673	missense	probably benign	0.04
U24488:Olfr694	UTSW	7	106689089	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGGGCTGTGGAAGGAAC -3'
(R):5'- TGAGTCAGAAAGTCTGCTGTCTC -3'

Sequencing Primer
(F):5'- GGGTAATACATACATGACAATAGCAC -3'
(R):5'- CAGAAAGTCTGCTGTCTCATGATAG -3'

Posted On

2015-11-11