Mutagenetix > Incidental Mutation

Incidental Mutation 'R5350:Or52s1b'

423754

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

042929-MU

Accession Numbers

Essential gene?

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

Stock #

R5350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102821898-102822842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102822766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 26 (H26L)

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: H26L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: H26L

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: H26L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218115

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Abca9	A	G	11: 110,006,364 (GRCm39)	V1247A	probably benign	Het
Acaca	A	T	11: 84,106,699 (GRCm39)	M133L	probably damaging	Het
Acacb	C	T	5: 114,382,612 (GRCm39)	A2100V	probably damaging	Het
Adamts16	T	A	13: 70,901,315 (GRCm39)	K921*	probably null	Het
Ankrd55	T	G	13: 112,472,760 (GRCm39)	V144G	probably damaging	Het
Arap3	A	G	18: 38,115,088 (GRCm39)	L976P	probably damaging	Het
Atg2a	T	A	19: 6,301,368 (GRCm39)	V814E	probably damaging	Het
Atp2b2	A	T	6: 113,736,199 (GRCm39)	M960K	probably damaging	Het
Bag1	C	T	4: 40,948,007 (GRCm39)	G66S	possibly damaging	Het
Bmp8a	A	T	4: 123,207,088 (GRCm39)	M391K	probably damaging	Het
Capns1	C	A	7: 29,889,551 (GRCm39)	R216L	probably damaging	Het
Cdk13	T	C	13: 17,978,515 (GRCm39)		probably benign	Het
Cmtm3	T	C	8: 105,070,465 (GRCm39)	F75L	probably damaging	Het
Cops4	T	A	5: 100,666,405 (GRCm39)	D21E	possibly damaging	Het
Dach1	G	T	14: 98,207,395 (GRCm39)	A318E	probably damaging	Het
Ddx27	A	G	2: 166,869,780 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,618,056 (GRCm39)	T201A	probably benign	Het
Dnah2	G	T	11: 69,406,862 (GRCm39)	D214E	possibly damaging	Het
Dnah7b	G	T	1: 46,272,849 (GRCm39)	G2326C	probably benign	Het
Dusp5	T	C	19: 53,529,665 (GRCm39)	F356S	probably damaging	Het
Duxf3	C	A	10: 58,066,915 (GRCm39)	S528I	probably damaging	Het
Ell	T	A	8: 70,992,439 (GRCm39)	V28E	probably damaging	Het
Evi5	C	T	5: 107,963,544 (GRCm39)	D344N	probably benign	Het
Fv1	G	T	4: 147,954,546 (GRCm39)	V371L	possibly damaging	Het
Gemin5	A	G	11: 58,032,412 (GRCm39)		probably null	Het
Glce	A	T	9: 61,967,587 (GRCm39)	Y521*	probably null	Het
Grn	T	A	11: 102,327,070 (GRCm39)	L556Q	possibly damaging	Het
Icam1	C	A	9: 20,939,182 (GRCm39)	Y518*	probably null	Het
Jag2	A	T	12: 112,872,542 (GRCm39)	S1237R	possibly damaging	Het
Macf1	A	T	4: 123,421,251 (GRCm39)	M1K	probably null	Het
Nbea	T	C	3: 55,926,845 (GRCm39)	E786G	probably damaging	Het
Nr4a2	A	G	2: 57,001,877 (GRCm39)	M192T	probably damaging	Het
Or2v2	T	C	11: 49,003,879 (GRCm39)	T225A	probably benign	Het
Or4a73	T	A	2: 89,421,432 (GRCm39)	E9V	possibly damaging	Het
Or7e169	A	T	9: 19,757,912 (GRCm39)	M1K	probably null	Het
Pcnx4	A	C	12: 72,626,138 (GRCm39)	N1115H	probably damaging	Het
Ppargc1b	A	G	18: 61,442,134 (GRCm39)	S585P	possibly damaging	Het
Ppip5k2	C	T	1: 97,648,853 (GRCm39)	S1024N	probably damaging	Het
Prkar1b	C	T	5: 139,092,383 (GRCm39)	E145K	probably damaging	Het
Psd3	T	A	8: 68,361,513 (GRCm39)	T539S	probably benign	Het
Rit2	A	G	18: 31,449,905 (GRCm39)	V31A	probably damaging	Het
Rps6kc1	G	A	1: 190,531,663 (GRCm39)	P780S	probably benign	Het
Serpina6	G	T	12: 103,614,838 (GRCm39)	T336K	possibly damaging	Het
Smo	A	T	6: 29,754,466 (GRCm39)	Q232L	probably benign	Het
Stx2	T	C	5: 129,068,155 (GRCm39)	D184G	probably damaging	Het
Tmprss11d	T	C	5: 86,486,746 (GRCm39)	Y48C	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	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
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
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'- CTCCATCGTGAAACCAGAAGAG -3'
(R):5'- TTACAAGAATTCCAGGAGATCTGTGG -3'

Sequencing Primer
(F):5'- GACTGAGAAGTTTGGGAACAGCTG -3'
(R):5'- TCCAGGAGATCTGTGGAATATAGTC -3'

Posted On

2016-08-04