Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Olfr1356'

373001

Institutional Source

Beutler Lab

Gene Symbol

Olfr1356

Ensembl Gene

ENSMUSG00000051190

Gene Name

olfactory receptor 1356

Synonyms

MOR142-1, MOR142-2_p, GA_x6K02T2QGN0-2962025-2962987

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78845052-78852166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78847575 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 113 (L113F)

Ref Sequence

ENSEMBL: ENSMUSP00000144815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061289] [ENSMUST00000205100]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061289
AA Change: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054345
Gene: ENSMUSG00000051190
AA Change: L113F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.6e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	6.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205100
AA Change: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144815
Gene: ENSMUSG00000051190
AA Change: L113F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.6e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	6.5e-22	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	Het

Other mutations in Olfr1356

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Olfr1356	APN	10	78847763	missense	probably damaging	1.00
IGL01343:Olfr1356	APN	10	78847597	missense	probably damaging	0.97
IGL01576:Olfr1356	APN	10	78847373	missense	possibly damaging	0.94
IGL02314:Olfr1356	APN	10	78847265	missense	probably damaging	1.00
IGL02474:Olfr1356	APN	10	78847063	missense	probably damaging	1.00
IGL02960:Olfr1356	APN	10	78847537	missense	probably damaging	1.00
IGL03049:Olfr1356	APN	10	78847522	missense	possibly damaging	0.81
IGL03328:Olfr1356	APN	10	78847367	missense	probably benign	0.39
R1602:Olfr1356	UTSW	10	78846968	missense	probably benign
R1722:Olfr1356	UTSW	10	78846971	missense	probably benign
R2178:Olfr1356	UTSW	10	78847778	missense	probably damaging	0.96
R3903:Olfr1356	UTSW	10	78847298	missense	probably benign	0.00
R3904:Olfr1356	UTSW	10	78847298	missense	probably benign	0.00
R4241:Olfr1356	UTSW	10	78847905	missense	probably benign	0.00
R5465:Olfr1356	UTSW	10	78847018	missense	probably benign	0.00
R5527:Olfr1356	UTSW	10	78847775	missense	probably benign	0.02
R5606:Olfr1356	UTSW	10	78847561	missense	probably benign	0.19
R5977:Olfr1356	UTSW	10	78847738	missense	possibly damaging	0.95
R6219:Olfr1356	UTSW	10	78847259	missense	possibly damaging	0.88
R6996:Olfr1356	UTSW	10	78847517	missense	probably benign	0.00
R7136:Olfr1356	UTSW	10	78847781	missense	probably benign	0.43
R7782:Olfr1356	UTSW	10	78847613	missense	probably benign	0.01
R7996:Olfr1356	UTSW	10	78847321	missense	probably damaging	1.00
Z1176:Olfr1356	UTSW	10	78847021	missense	possibly damaging	0.73
Z1177:Olfr1356	UTSW	10	78847456	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTTCGGGAAGATCACAG -3'
(R):5'- TTGTGGCCATCATATCTGACCC -3'

Sequencing Primer
(F):5'- GGAATTTCCATGTTTGTACAGAAGG -3'
(R):5'- ATCATATCTGACCCCCACCTG -3'

Posted On

2016-03-01