Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Olfr50'

557780

Institutional Source

Beutler Lab

Gene Symbol

Olfr50

Ensembl Gene

ENSMUSG00000111021

Gene Name

olfactory receptor 50

Synonyms

GA_x6K02T2NLDC-33487752-33488690, ID3, MOR136-6

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36790538-36797392 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36793697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

Ref Sequence

ENSEMBL: ENSMUSP00000149484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000112950
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: S154P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	3.5e-34	PFAM
Pfam:7tm_4	140	284	3.9e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213498

Predicted Effect

probably benign
Transcript: ENSMUST00000214909

Predicted Effect

probably benign
Transcript: ENSMUST00000215199

Predicted Effect

probably benign
Transcript: ENSMUST00000216753
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217041
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	Het

Other mutations in Olfr50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Olfr50	APN	2	36794000	missense	probably benign	0.05
IGL02316:Olfr50	APN	2	36793620	missense	probably damaging	0.98
IGL02330:Olfr50	APN	2	36793895	missense	probably benign	0.00
IGL03144:Olfr50	APN	2	36794081	missense	probably benign	0.44
R0092:Olfr50	UTSW	2	36793496	missense	probably benign	0.06
R0113:Olfr50	UTSW	2	36793994	missense	probably damaging	0.98
R0113:Olfr50	UTSW	2	36793995	missense	probably damaging	0.99
R0604:Olfr50	UTSW	2	36794107	nonsense	probably null
R0932:Olfr50	UTSW	2	36793891	nonsense	probably null
R1191:Olfr50	UTSW	2	36793338	missense	probably damaging	0.97
R1238:Olfr50	UTSW	2	36793589	missense	probably damaging	1.00
R1525:Olfr50	UTSW	2	36794143	missense	probably null	0.01
R3103:Olfr50	UTSW	2	36793562	missense	possibly damaging	0.80
R3955:Olfr50	UTSW	2	36793553	missense	probably benign	0.34
R4573:Olfr50	UTSW	2	36793479	missense	probably damaging	1.00
R5256:Olfr50	UTSW	2	36793673	missense	probably benign
R5650:Olfr50	UTSW	2	36793265	missense	probably benign	0.36
R6130:Olfr50	UTSW	2	36794043	missense	probably benign	0.01
R6175:Olfr50	UTSW	2	36793968	missense	probably damaging	1.00
R6320:Olfr50	UTSW	2	36793573	missense	possibly damaging	0.90
R6481:Olfr50	UTSW	2	36793777	missense	possibly damaging	0.63
R7622:Olfr50	UTSW	2	36793931	missense	probably benign	0.06
R8391:Olfr50	UTSW	2	36794084	missense	probably damaging	0.99
R8846:Olfr50	UTSW	2	36793677	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCACAGCTCCAAAGATGCTC -3'
(R):5'- ACAGTGATGACCACCACTGC -3'

Sequencing Primer
(F):5'- AATCCATCTCACATGCTGGGTG -3'
(R):5'- GTGATGACCACCACTGCTAAAG -3'

Posted On

2019-06-26