Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Or52s1b'

639262

Institutional Source

Beutler Lab

Gene Symbol

Or52s1b

Ensembl Gene

ENSMUSG00000057461

Gene Name

olfactory receptor family 52 subfamily S member 1B

Synonyms

MOR24-1P, GA_x6K02T2PBJ9-5889409-5888465, Olfr591

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102821898-102822842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102822280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 188 (K188T)

Ref Sequence

ENSEMBL: ENSMUSP00000073884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074272]

AlphaFold

Q7TRR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000074272
AA Change: K188T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: K188T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	9.4e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	255	7.1e-8	PFAM
Pfam:7tm_1	43	294	6.9e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,120,364 (GRCm39)	I374F	probably benign	Het
Ak9	G	A	10: 41,300,712 (GRCm39)	V1108I		Het
Aldh16a1	C	T	7: 44,791,406 (GRCm39)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,278,554 (GRCm39)		probably benign	Het
Antxr2	T	G	5: 98,125,538 (GRCm39)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,250,058 (GRCm39)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,528,866 (GRCm39)	T1591A	probably benign	Het
Aurka	A	G	2: 172,198,850 (GRCm39)	S374P	probably damaging	Het
Bccip	T	C	7: 133,320,933 (GRCm39)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,001,179 (GRCm39)		probably benign	Het
Calm1	A	G	12: 100,171,944 (GRCm39)	E132G	probably benign	Het
Casz1	A	G	4: 149,030,500 (GRCm39)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm39)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,450,271 (GRCm39)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,658,018 (GRCm39)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,299,354 (GRCm39)	S337A	unknown	Het
Ddx60	A	G	8: 62,453,631 (GRCm39)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,873,577 (GRCm39)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,396,407 (GRCm39)		probably benign	Het
Ebf2	A	G	14: 67,476,431 (GRCm39)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,030,106 (GRCm39)	M136L	probably benign	Het
Enpp2	A	G	15: 54,714,803 (GRCm39)	F598S	probably benign	Het
Extl3	A	C	14: 65,313,733 (GRCm39)	L483R	probably damaging	Het
Gcat	T	C	15: 78,920,089 (GRCm39)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,381,442 (GRCm39)	D344G	probably damaging	Het
Ighm	C	T	12: 113,385,165 (GRCm39)	G265D		Het
Igsf9b	T	G	9: 27,246,035 (GRCm39)		probably benign	Het
Ints6	A	G	14: 62,939,902 (GRCm39)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm39)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,818,659 (GRCm39)		probably null	Het
Kalrn	G	T	16: 34,177,470 (GRCm39)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,451,770 (GRCm39)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa50	A	G	16: 43,977,494 (GRCm39)	N74S	probably benign	Het
Neb	T	C	2: 52,178,847 (GRCm39)	N1303S	probably benign	Het
Nfs1	A	T	2: 155,976,413 (GRCm39)	C160*	probably null	Het
Or11g7	T	A	14: 50,691,021 (GRCm39)	S171T	probably benign	Het
Or5p52	A	G	7: 107,502,833 (GRCm39)	K303R	probably benign	Het
Or6c76	T	C	10: 129,612,709 (GRCm39)	S309P	probably benign	Het
Orm2	T	C	4: 63,281,263 (GRCm39)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,382,142 (GRCm39)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,061 (GRCm39)	G746R	probably damaging	Het
Pkm	T	A	9: 59,575,914 (GRCm39)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,192,425 (GRCm39)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,472,483 (GRCm39)	V1076I	probably benign	Het
Polq	C	A	16: 36,882,181 (GRCm39)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,994,895 (GRCm39)	T256A	probably benign	Het
Prkch	C	T	12: 73,749,538 (GRCm39)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,383,168 (GRCm39)		probably benign	Het
Prl7b1	A	C	13: 27,786,755 (GRCm39)	V158G	possibly damaging	Het
Prss22	T	C	17: 24,212,955 (GRCm39)	S261G	probably damaging	Het
Psd	T	C	19: 46,309,541 (GRCm39)		probably benign	Het
Psg18	A	T	7: 18,087,302 (GRCm39)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,729,993 (GRCm39)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,325,568 (GRCm39)	S1491T		Het
Rsf1	T	C	7: 97,311,132 (GRCm39)	S621P		Het
Runx1	C	A	16: 92,402,544 (GRCm39)	*466L	probably null	Het
Samd4	A	G	14: 47,254,135 (GRCm39)	I200V	probably benign	Het
Sdsl	C	T	5: 120,597,584 (GRCm39)	C241Y	probably benign	Het
Selenon	T	C	4: 134,278,725 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,035,702 (GRCm39)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,418,396 (GRCm39)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,835,611 (GRCm39)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,282,286 (GRCm39)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,220,996 (GRCm39)	A324S	probably benign	Het
Tmem217	A	G	17: 29,745,466 (GRCm39)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,779,115 (GRCm39)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trhde	T	A	10: 114,322,911 (GRCm39)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm39)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,507,510 (GRCm39)	C601S	probably benign	Het
Zfp873	C	A	10: 81,896,713 (GRCm39)	H481Q	probably damaging	Het

Other mutations in Or52s1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02408:Or52s1b	APN	7	102,822,658 (GRCm39)	missense	probably damaging	1.00
IGL03307:Or52s1b	APN	7	102,822,623 (GRCm39)	missense	probably benign	0.00
G1Funyon:Or52s1b	UTSW	7	102,822,280 (GRCm39)	missense	probably damaging	0.99
R0082:Or52s1b	UTSW	7	102,822,409 (GRCm39)	missense	probably benign	0.05
R0389:Or52s1b	UTSW	7	102,822,490 (GRCm39)	missense	possibly damaging	0.48
R0843:Or52s1b	UTSW	7	102,822,326 (GRCm39)	missense	possibly damaging	0.74
R1378:Or52s1b	UTSW	7	102,822,475 (GRCm39)	missense	probably damaging	1.00
R1386:Or52s1b	UTSW	7	102,822,574 (GRCm39)	missense	probably benign	0.11
R1521:Or52s1b	UTSW	7	102,822,658 (GRCm39)	missense	probably benign	0.39
R1538:Or52s1b	UTSW	7	102,822,193 (GRCm39)	missense	probably damaging	0.97
R3108:Or52s1b	UTSW	7	102,822,293 (GRCm39)	missense	probably damaging	0.98
R3109:Or52s1b	UTSW	7	102,822,293 (GRCm39)	missense	probably damaging	0.98
R5350:Or52s1b	UTSW	7	102,822,766 (GRCm39)	missense	probably damaging	0.99
R5488:Or52s1b	UTSW	7	102,822,658 (GRCm39)	missense	probably damaging	1.00
R5489:Or52s1b	UTSW	7	102,822,658 (GRCm39)	missense	probably damaging	1.00
R5598:Or52s1b	UTSW	7	102,822,841 (GRCm39)	start codon destroyed	probably null	1.00
R5607:Or52s1b	UTSW	7	102,822,056 (GRCm39)	missense	probably damaging	0.96
R5608:Or52s1b	UTSW	7	102,822,056 (GRCm39)	missense	probably damaging	0.96
R6974:Or52s1b	UTSW	7	102,822,442 (GRCm39)	missense	probably damaging	0.99
R6994:Or52s1b	UTSW	7	102,822,119 (GRCm39)	missense	probably damaging	1.00
R7095:Or52s1b	UTSW	7	102,822,253 (GRCm39)	missense	probably benign	0.00
R7966:Or52s1b	UTSW	7	102,822,062 (GRCm39)	missense	probably damaging	0.99
R7980:Or52s1b	UTSW	7	102,822,242 (GRCm39)	missense	probably damaging	1.00
R8831:Or52s1b	UTSW	7	102,822,203 (GRCm39)	missense	probably benign	0.01
Z1088:Or52s1b	UTSW	7	102,822,013 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GAGCCACTTTGTGCCCAAAC -3'
(R):5'- TTGTAACCCATTAAGACACTCAGC -3'

Sequencing Primer
(F):5'- ACTTTGTGCCCAAACCTATGG -3'
(R):5'- CTATTTTGACACGCACTGTAACTGGG -3'

Posted On

2020-07-28