Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01745:Or5m3b'

152994

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5m3b

Ensembl Gene

ENSMUSG00000045392

Gene Name

olfactory receptor family 5 subfamily M member 3B

Synonyms

GA_x6K02T2Q125-47516301-47517233, Olfr1033, MOR199-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01745

Quality Score

Status

Chromosome

Chromosomal Location

85850984-85875152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85872381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 241 (S241T)

Ref Sequence

ENSEMBL: ENSMUSP00000151539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111589] [ENSMUST00000213496] [ENSMUST00000213774] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]

AlphaFold

Q8VFK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111589
AA Change: S241T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: S241T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-50	PFAM
Pfam:7tm_1	39	288	3.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213364

Predicted Effect

probably benign
Transcript: ENSMUST00000213496

Predicted Effect

probably benign
Transcript: ENSMUST00000213774

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213865
AA Change: S241T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214546
AA Change: S241T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215682
AA Change: S241T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218397
AA Change: S241T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc153	T	G	9: 44,154,408 (GRCm39)	S56R	possibly damaging	Het
Chct1	A	G	11: 85,063,696 (GRCm39)	T30A	probably benign	Het
D630045J12Rik	T	C	6: 38,168,655 (GRCm39)	K965E	probably damaging	Het
F2rl1	A	G	13: 95,650,261 (GRCm39)	V207A	probably benign	Het
Matn4	A	G	2: 164,242,663 (GRCm39)	V145A	probably damaging	Het
Mllt6	T	G	11: 97,567,754 (GRCm39)	L757R	probably damaging	Het
Or2at4	A	G	7: 99,384,595 (GRCm39)	T82A	probably damaging	Het
Or5g26	T	C	2: 85,493,921 (GRCm39)	N286D	possibly damaging	Het
Prrc2c	A	G	1: 162,552,297 (GRCm39)	S30P	probably damaging	Het
Setd2	T	C	9: 110,423,779 (GRCm39)	V2278A	probably damaging	Het
Slco4a1	G	A	2: 180,106,472 (GRCm39)	C218Y	probably damaging	Het
Vps35	A	T	8: 86,000,092 (GRCm39)		probably benign	Het
Zfp593	A	G	4: 133,972,355 (GRCm39)	S82P	probably damaging	Het

Other mutations in Or5m3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Or5m3b	APN	2	85,872,441 (GRCm39)	missense	probably damaging	1.00
IGL02317:Or5m3b	APN	2	85,871,913 (GRCm39)	missense	probably damaging	0.99
IGL02400:Or5m3b	APN	2	85,872,420 (GRCm39)	missense	probably benign	0.00
R0692:Or5m3b	UTSW	2	85,872,516 (GRCm39)	missense	probably benign	0.00
R1629:Or5m3b	UTSW	2	85,871,766 (GRCm39)	missense	probably damaging	0.99
R2105:Or5m3b	UTSW	2	85,871,674 (GRCm39)	missense	probably damaging	0.97
R2288:Or5m3b	UTSW	2	85,872,377 (GRCm39)	nonsense	probably null
R4451:Or5m3b	UTSW	2	85,872,303 (GRCm39)	missense	probably damaging	1.00
R4512:Or5m3b	UTSW	2	85,871,913 (GRCm39)	missense	probably damaging	0.99
R4878:Or5m3b	UTSW	2	85,871,799 (GRCm39)	missense	probably benign	0.08
R5442:Or5m3b	UTSW	2	85,872,295 (GRCm39)	missense	probably benign	0.29
R5867:Or5m3b	UTSW	2	85,871,795 (GRCm39)	missense	probably benign	0.01
R7849:Or5m3b	UTSW	2	85,871,949 (GRCm39)	missense	probably benign	0.00
R7881:Or5m3b	UTSW	2	85,871,814 (GRCm39)	missense	probably benign	0.03
Z1088:Or5m3b	UTSW	2	85,872,063 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04