Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:Or52s1b'

431979

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

043050-MU

Accession Numbers

Essential gene?

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

Stock #

R5489 (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: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,268,778 (GRCm39)	M1K	probably null	Het
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Bms1	T	C	6: 118,390,706 (GRCm39)	T208A	possibly damaging	Het
Brd8	A	T	18: 34,741,698 (GRCm39)		probably null	Het
Caln1	G	T	5: 130,443,673 (GRCm39)	R2L	possibly 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
Clec14a	A	G	12: 58,315,035 (GRCm39)	F196L	probably damaging	Het
Clec2f	T	C	6: 128,997,449 (GRCm39)		noncoding transcript	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cyb561	A	G	11: 105,826,349 (GRCm39)	V202A	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
Ddx54	A	G	5: 120,762,786 (GRCm39)	T636A	probably benign	Het
Dnah8	T	G	17: 31,009,930 (GRCm39)	F3774V	probably damaging	Het
Ern1	A	G	11: 106,298,355 (GRCm39)	S674P	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
Frmd8	T	A	19: 5,902,680 (GRCm39)	Q457L	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Heatr6	A	G	11: 83,665,258 (GRCm39)	E741G	probably damaging	Het
Hnrnpab	A	G	11: 51,495,640 (GRCm39)	L133S	probably damaging	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
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Leap2	T	G	11: 53,313,240 (GRCm39)	*77C	probably null	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Mrps9	T	G	1: 42,937,593 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,305,169 (GRCm39)	S158P	probably benign	Het
Mus81	T	C	19: 5,537,917 (GRCm39)		probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Padi2	T	C	4: 140,671,799 (GRCm39)	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,155,260 (GRCm39)	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	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
Slc17a4	A	G	13: 24,082,825 (GRCm39)		probably null	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Thap3	T	A	4: 152,070,109 (GRCm39)		probably benign	Het
Tmem45a	T	A	16: 56,646,074 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Zfp735	G	A	11: 73,601,419 (GRCm39)	W121*	probably null	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
R5488: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