Mutagenetix > Incidental Mutation

Incidental Mutation 'R1378:Or52s1b'

162948

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

039442-MU

Accession Numbers

Essential gene?

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

Stock #

R1378 (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 102822475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

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: D123G

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

SMART Domains

Protein: ENSMUSP00000073884
Gene: ENSMUSG00000057461
AA Change: D123G

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: D123G

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

100% (57/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,126,030 (GRCm39)	T342A	probably damaging	Het
Alg1	A	G	16: 5,061,580 (GRCm39)	N406D	probably damaging	Het
Atp13a4	A	T	16: 29,239,246 (GRCm39)	M825K	probably damaging	Het
Birc6	T	A	17: 74,967,450 (GRCm39)	I4117K	probably damaging	Het
Brinp2	A	T	1: 158,074,624 (GRCm39)	L499Q	possibly damaging	Het
Brwd1	A	T	16: 95,842,570 (GRCm39)	V789D	probably benign	Het
Ccdc153	C	G	9: 44,154,958 (GRCm39)	L94V	probably null	Het
Ccna1	A	G	3: 54,957,150 (GRCm39)	V237A	probably damaging	Het
Cct7	T	A	6: 85,444,545 (GRCm39)		probably null	Het
Cenpb	C	T	2: 131,020,230 (GRCm39)		probably benign	Het
Chrne	T	A	11: 70,505,956 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,415,378 (GRCm39)	D662V	probably damaging	Het
Clu	G	T	14: 66,212,350 (GRCm39)	C189F	probably damaging	Het
Cstdc5	A	G	16: 36,179,929 (GRCm39)	C63R	probably benign	Het
Cul7	C	T	17: 46,973,052 (GRCm39)	R1388C	probably damaging	Het
Dgka	T	C	10: 128,571,696 (GRCm39)		probably null	Het
Dop1b	A	G	16: 93,567,280 (GRCm39)	T1236A	probably benign	Het
Edn2	A	G	4: 120,019,095 (GRCm39)	E28G	probably benign	Het
Elp3	T	C	14: 65,830,380 (GRCm39)	I24V	probably benign	Het
Faap24	T	C	7: 35,092,326 (GRCm39)	E197G	probably benign	Het
Fam13a	T	A	6: 58,933,736 (GRCm39)	M285L	probably benign	Het
Gm9944	T	A	4: 144,179,773 (GRCm39)		probably benign	Het
Gsdmc3	T	C	15: 63,731,435 (GRCm39)		probably benign	Het
Gvin3	T	A	7: 106,201,373 (GRCm39)	I624F	probably damaging	Het
Ift22	A	C	5: 136,941,757 (GRCm39)	K133T	probably benign	Het
Il23r	T	A	6: 67,429,394 (GRCm39)	K316I	possibly damaging	Het
Klra17	T	A	6: 129,842,647 (GRCm39)	E217V	probably damaging	Het
Nell2	A	T	15: 95,130,402 (GRCm39)	V657E	probably damaging	Het
Nlrp4d	C	A	7: 10,098,111 (GRCm39)	K850N	probably benign	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Or10d4	T	C	9: 39,580,962 (GRCm39)	L203P	probably damaging	Het
Or4p8	T	A	2: 88,727,370 (GRCm39)	R190S	probably benign	Het
Or52z14	A	T	7: 103,253,145 (GRCm39)	R95*	probably null	Het
Pclo	T	C	5: 14,732,327 (GRCm39)	S3610P	probably benign	Het
Pon3	T	G	6: 5,230,813 (GRCm39)	D238A	probably benign	Het
Ppp4r4	T	C	12: 103,547,751 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,658,297 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,723,711 (GRCm39)	Y1652C	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sel1l	T	C	12: 91,799,871 (GRCm39)		probably null	Het
Soat1	A	G	1: 156,294,352 (GRCm39)		probably benign	Het
Tex15	A	T	8: 34,065,244 (GRCm39)	N1558I	probably damaging	Het
Tmem132d	A	T	5: 128,346,011 (GRCm39)	F170L	probably benign	Het
Tro	G	T	X: 149,438,567 (GRCm39)	P30Q	probably damaging	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Unc45b	G	A	11: 82,827,678 (GRCm39)	S725N	probably benign	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vps35l	G	T	7: 118,393,795 (GRCm39)	E515*	probably null	Het
Vps35l	A	T	7: 118,393,796 (GRCm39)	E515V	probably damaging	Het
Zfp174	G	A	16: 3,667,353 (GRCm39)	E181K	probably benign	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
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
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'- TGTCTCAGCACAGGCAATCTTGATG -3'
(R):5'- AGCCTCCATGAGCCAATGTACCTC -3'

Sequencing Primer
(F):5'- ATCTTGATGAGGGCCATGAACTC -3'
(R):5'- ATGAGCCAATGTACCTCTTTCTCTG -3'

Posted On

2014-03-17