Mutagenetix > Incidental Mutation

Incidental Mutation 'R5488:Or52s1b'

430462

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

043049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102821898-102822842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102822658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 62 (Y62C)

Ref Sequence

ENSEMBL: ENSMUSP00000150894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074272] [ENSMUST00000216581]

AlphaFold

Q7TRR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000074272
AA Change: Y62C

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

SMART Domains

Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: Y62C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216581
AA Change: Y62C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218115

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.5%

Validation Efficiency

97% (58/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Abca5	A	G	11: 110,183,009 (GRCm39)	V1016A	probably benign	Het
Ano2	G	T	6: 126,016,216 (GRCm39)	M916I	possibly damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Cd48	G	A	1: 171,523,273 (GRCm39)	V39I	possibly damaging	Het
Cdcp3	A	G	7: 130,848,324 (GRCm39)	D710G	probably damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cripto	G	A	9: 110,772,265 (GRCm39)	R44C	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Gprc5a	T	C	6: 135,055,868 (GRCm39)	V105A	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Kctd3	A	G	1: 188,713,563 (GRCm39)	Y391H	probably damaging	Het
Kdelr2	T	A	5: 143,389,784 (GRCm39)	I23N	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Lao1	A	G	4: 118,824,566 (GRCm39)	E216G	probably damaging	Het
Mark4	G	T	7: 19,163,532 (GRCm39)		probably null	Het
Mcm10	A	G	2: 4,996,929 (GRCm39)	W851R	probably damaging	Het
Mettl21e	T	C	1: 44,257,276 (GRCm39)	Y14C	probably benign	Het
Miga1	CACAACAACAACAACAACA	CACAACAACAACAACA	3: 152,039,083 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,117,359 (GRCm39)	D361V	probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or12d2	T	C	17: 37,624,559 (GRCm39)	T239A	probably damaging	Het
Pcdh10	G	A	3: 45,335,803 (GRCm39)	G706S	probably damaging	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Pfkfb3	T	C	2: 11,489,480 (GRCm39)	S273G	probably benign	Het
Pkn3	T	C	2: 29,978,596 (GRCm39)		probably null	Het
Rab40c	G	A	17: 26,109,643 (GRCm39)	T78I	probably damaging	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc6a11	A	G	6: 114,220,855 (GRCm39)	D462G	probably damaging	Het
Syne2	A	G	12: 75,934,946 (GRCm39)	T143A	probably benign	Het
Tardbp	A	G	4: 148,703,097 (GRCm39)	F289S	probably benign	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Tmem117	ACCC	ACC	15: 94,992,698 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vim	A	T	2: 13,580,392 (GRCm39)	T202S	probably benign	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Wdr5	T	G	2: 27,415,165 (GRCm39)	D192E	probably damaging	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	possibly 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
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
R8301:Or52s1b	UTSW	7	102,822,280 (GRCm39)	missense	probably damaging	0.99
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'- GGCTACATAACGGTCAAAGGCC -3'
(R):5'- CCACAAACTTTTGACACTCATCATG -3'

Sequencing Primer
(F):5'- GGTCAAAGGCCATTCCTACAAGG -3'
(R):5'- AAACTTTTGACACTCATCATGTTAAC -3'

Posted On

2016-10-05