Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Olfr1350'

548261

Institutional Source

Beutler Lab

Gene Symbol

Olfr1350

Ensembl Gene

ENSMUSG00000056696

Gene Name

olfactory receptor 1350

Synonyms

GA_x6K02T2QGBW-3300391-3301317, MOR222-3

MMRRC Submission

045384-MU

Accession Numbers

Genbank: NM_146389.1

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6564841-6571401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6570783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 264 (Y264C)

Ref Sequence

ENSEMBL: ENSMUSP00000151318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070985] [ENSMUST00000207221] [ENSMUST00000219278]

AlphaFold

Q8VF34

Predicted Effect

probably damaging
Transcript: ENSMUST00000070985
AA Change: Y264C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: Y264C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.6e-50	PFAM
Pfam:7tm_1	39	288	8.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207221
AA Change: Y264C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219278
AA Change: Y264C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	possibly damaging	Het

Other mutations in Olfr1350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Olfr1350	APN	7	6570668	missense	possibly damaging	0.88
IGL01387:Olfr1350	APN	7	6570855	missense	probably damaging	1.00
IGL01457:Olfr1350	APN	7	6570212	missense	probably benign	0.12
IGL01568:Olfr1350	APN	7	6570570	missense	possibly damaging	0.91
I2288:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
I2289:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
R0454:Olfr1350	UTSW	7	6570360	missense	probably damaging	1.00
R0558:Olfr1350	UTSW	7	6570653	missense	possibly damaging	0.77
R1103:Olfr1350	UTSW	7	6570112	missense	probably damaging	1.00
R1352:Olfr1350	UTSW	7	6570783	missense	probably benign	0.11
R1503:Olfr1350	UTSW	7	6570471	missense	probably damaging	1.00
R1630:Olfr1350	UTSW	7	6570674	missense	probably damaging	1.00
R1981:Olfr1350	UTSW	7	6570558	missense	probably benign	0.01
R2228:Olfr1350	UTSW	7	6570803	missense	probably benign
R2258:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2259:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2260:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R4075:Olfr1350	UTSW	7	6570143	missense	probably benign	0.00
R4750:Olfr1350	UTSW	7	6570851	missense	probably benign	0.34
R4917:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R4918:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R5571:Olfr1350	UTSW	7	6570825	missense	possibly damaging	0.95
R5915:Olfr1350	UTSW	7	6570173	missense	probably benign	0.31
R6969:Olfr1350	UTSW	7	6570321	missense	probably damaging	1.00
R7286:Olfr1350	UTSW	7	6570716	missense	probably damaging	1.00
R7510:Olfr1350	UTSW	7	6569961	start gained	probably benign
R9475:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
V1662:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
Z1176:Olfr1350	UTSW	7	6570048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCATCTAGCTTGTGGTGAC -3'
(R):5'- CTGGTTTCTGGAACTTCCCG -3'

Sequencing Primer
(F):5'- GTGACACCCAAGGCCATGAG -3'
(R):5'- GAACTTCCCGTGTCTAAGTGTCAG -3'

Posted On

2019-05-13