Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Olfr1269'

367060

Institutional Source

Beutler Lab

Gene Symbol

Olfr1269

Ensembl Gene

ENSMUSG00000084336

Gene Name

olfactory receptor 1269

Synonyms

GA_x6K02T2Q125-51551618-51550689, MOR228-3

MMRRC Submission

041995-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90116187-90121412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90119007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 197 (I197N)

Ref Sequence

ENSEMBL: ENSMUSP00000150470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]

AlphaFold

Q8VEZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099756
AA Change: I197N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: I197N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.2e-5	PFAM
Pfam:7tm_1	39	285	5.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117787

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214404
AA Change: I197N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216493
AA Change: I197N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,059,536	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,280,354	Y414C	probably damaging	Het
Adam32	A	C	8: 24,863,493	S693R	probably damaging	Het
Aldh2	A	T	5: 121,572,824	F314Y	probably benign	Het
Anks1	A	G	17: 28,052,730	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,818,804	V372E	probably benign	Het
Aqp12	G	A	1: 93,006,455	C18Y	probably damaging	Het
Arap1	T	A	7: 101,385,005	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,698	E28*	probably null	Het
Asb5	G	A	8: 54,585,839	E247K	probably benign	Het
Atg9b	T	C	5: 24,386,089	D781G	possibly damaging	Het
Atxn10	A	G	15: 85,387,143	H294R	probably benign	Het
Bod1l	G	T	5: 41,819,438	T1511K	probably benign	Het
Btnl2	A	T	17: 34,363,348	N296I	probably damaging	Het
Camta1	A	T	4: 151,290,039	L168H	probably damaging	Het
Cant1	A	T	11: 118,408,839	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,151,861	D20G	probably damaging	Het
Cd209c	T	G	8: 3,945,698	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,078,734	V279M	probably damaging	Het
Cdh18	T	A	15: 23,410,787	W453R	probably null	Het
Cdh24	A	G	14: 54,637,550	S333P	possibly damaging	Het
Ceacam11	T	C	7: 17,972,314		probably null	Het
Ciz1	C	T	2: 32,377,527	P150L	probably damaging	Het
Crip3	C	A	17: 46,431,042	Q152K	possibly damaging	Het
Dars2	G	A	1: 161,060,760	R197W	probably damaging	Het
Dctn4	A	G	18: 60,555,195	D394G	probably damaging	Het
Dido1	T	C	2: 180,670,871	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egln3	A	T	12: 54,185,581	I146N	probably damaging	Het
Eif2ak3	C	T	6: 70,892,618	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,147,246	M1L	probably benign	Het
Fam171a1	A	T	2: 3,225,578	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,529,674	L249W	probably damaging	Het
Fxyd5	T	C	7: 31,041,482		probably benign	Het
Gabrr3	C	A	16: 59,430,100	T154K	probably benign	Het
Gm7233	C	A	14: 43,180,890	D90E	probably benign	Het
Gm8186	A	G	17: 26,099,040	V61A	probably benign	Het
Gm9573	A	T	17: 35,619,329		probably benign	Het
Gnao1	A	G	8: 93,944,303	I137V	probably benign	Het
Gnptab	A	G	10: 88,436,182	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,322,481	A78T	probably benign	Het
Gtf2b	T	C	3: 142,781,469	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,923,896	Y47C	probably damaging	Het
Itga6	A	G	2: 71,838,690	N608S	possibly damaging	Het
Kdm2b	T	C	5: 122,880,854		probably null	Het
Krit1	T	A	5: 3,812,467	H207Q	possibly damaging	Het
Ky	A	G	9: 102,541,987	N398D	probably benign	Het
Lama1	T	A	17: 67,773,859	V1294E	possibly damaging	Het
Lef1	C	T	3: 131,111,524	T18I	probably damaging	Het
Lrp2	T	C	2: 69,537,956	N178S	probably damaging	Het
Lrrc36	A	G	8: 105,455,278	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647	C222*	probably null	Het
Mapre2	G	C	18: 23,877,959	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,488,466	N911S	probably benign	Het
Mroh4	G	T	15: 74,610,234	H722Q	probably benign	Het
Myo5b	A	C	18: 74,695,380	Y701S	probably benign	Het
Myt1l	G	T	12: 29,811,458	V80L	unknown	Het
Ncoa7	C	A	10: 30,655,642	V24L	probably benign	Het
Nlrp10	A	T	7: 108,925,238	V345D	probably damaging	Het
Nmral1	C	A	16: 4,716,424	G51V	probably damaging	Het
Npc1	A	G	18: 12,199,497	I797T	probably benign	Het
Olfr936	T	A	9: 39,047,487	R22*	probably null	Het
Olfr954	A	T	9: 39,461,841	I134L	probably benign	Het
Pclo	A	T	5: 14,723,267	I4419F	unknown	Het
Phf3	C	A	1: 30,816,557	E983*	probably null	Het
Pitpnm2	A	T	5: 124,121,743	Y1149*	probably null	Het
Sdc3	A	T	4: 130,822,768	T430S	probably damaging	Het
Sema3f	A	G	9: 107,682,682	V671A	probably benign	Het
Sigirr	T	G	7: 141,091,433	S379R	probably benign	Het
Slc25a23	T	A	17: 57,047,326	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,087,995	M357K	probably benign	Het
Sox14	C	A	9: 99,874,965	M240I	probably benign	Het
Stradb	A	T	1: 58,991,208		probably benign	Het
Szt2	A	T	4: 118,399,062	M200K	probably benign	Het
Tef	T	C	15: 81,815,252	S85P	probably benign	Het
Thada	T	A	17: 84,458,855	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,173,931	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,530,219	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,680,064	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,542	V311A	probably benign	Het
Trak1	T	A	9: 121,472,494	M772K	probably benign	Het
Ubash3a	A	G	17: 31,217,964	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,522,048	T516A	probably benign	Het
Wdr4	A	C	17: 31,509,811	L130R	probably damaging	Het
Zfp12	T	C	5: 143,245,502	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,879,413	L636P	probably damaging	Het

Other mutations in Olfr1269

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Olfr1269	APN	2	90119068	missense	probably damaging	1.00
IGL01518:Olfr1269	APN	2	90118971	missense	possibly damaging	0.95
IGL01889:Olfr1269	APN	2	90118965	missense	possibly damaging	0.84
IGL02629:Olfr1269	APN	2	90118857	nonsense	probably null
R0732:Olfr1269	UTSW	2	90119322	missense	probably benign	0.20
R1446:Olfr1269	UTSW	2	90118858	missense	probably damaging	0.98
R1938:Olfr1269	UTSW	2	90119083	missense	probably damaging	0.97
R4526:Olfr1269	UTSW	2	90118672	missense	probably benign	0.01
R4792:Olfr1269	UTSW	2	90118830	missense	possibly damaging	0.95
R4925:Olfr1269	UTSW	2	90118777	missense	probably damaging	1.00
R5152:Olfr1269	UTSW	2	90119121	missense	probably damaging	0.98
R5296:Olfr1269	UTSW	2	90118699	missense	probably damaging	0.97
R5450:Olfr1269	UTSW	2	90118669	makesense	probably null
R5536:Olfr1269	UTSW	2	90118839	missense	probably benign	0.00
R7572:Olfr1269	UTSW	2	90118743	missense	probably damaging	1.00
R7695:Olfr1269	UTSW	2	90118863	missense	probably benign	0.08
R7879:Olfr1269	UTSW	2	90118841	nonsense	probably null
R7938:Olfr1269	UTSW	2	90118829	nonsense	probably null
R8280:Olfr1269	UTSW	2	90119398	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GGTATCAGAAGGCCTCAAATAGATG -3'
(R):5'- TGCAAGCCCCTGCACTATAC -3'

Sequencing Primer
(F):5'- GCCTCAAATAGATGAAGACACATG -3'
(R):5'- ACCAAAGTGTGTGTGCAGTCC -3'

Posted On

2015-12-29