Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02378:Or5b98'

291215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5b98

Ensembl Gene

ENSMUSG00000062892

Gene Name

olfactory receptor family 5 subfamily B member 98

Synonyms

Olfr1450, GA_x6K02T2RE5P-3283121-3284098, MOR202-33

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02378

Quality Score

Status

Chromosome

Chromosomal Location

12930955-12931932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 12931747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 265 (S265R)

Ref Sequence

ENSEMBL: ENSMUSP00000150243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082006] [ENSMUST00000213587] [ENSMUST00000213925]

AlphaFold

Q8VF19

Predicted Effect

probably benign
Transcript: ENSMUST00000082006
AA Change: S265R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080666
Gene: ENSMUSG00000062892
AA Change: S265R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.8e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.5e-6	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213587
AA Change: S265R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000213925
AA Change: S265R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,080,424 (GRCm39)	T414I	probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acer2	A	T	4: 86,804,491 (GRCm39)	T69S	probably benign	Het
Adcy2	A	G	13: 68,878,411 (GRCm39)	V409A	probably damaging	Het
Anks3	T	A	16: 4,768,626 (GRCm39)	Y239F	possibly damaging	Het
Arhgap42	G	A	9: 9,035,584 (GRCm39)	H253Y	possibly damaging	Het
Asb18	A	T	1: 89,920,710 (GRCm39)	L189Q	probably damaging	Het
C3	T	C	17: 57,519,698 (GRCm39)	R1185G	probably benign	Het
Cdca7l	T	A	12: 117,835,862 (GRCm39)	V66E	possibly damaging	Het
Cdrt4	G	T	11: 62,883,534 (GRCm39)	E79*	probably null	Het
Cep57	A	C	9: 13,732,842 (GRCm39)	Y34*	probably null	Het
Cep63	A	T	9: 102,473,314 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,144,721 (GRCm39)	I516K	possibly damaging	Het
Dnah10	A	G	5: 124,850,131 (GRCm39)	E1551G	probably damaging	Het
Dysf	T	C	6: 84,088,887 (GRCm39)	I843T	probably damaging	Het
Gabra1	C	A	11: 42,031,082 (GRCm39)	V283F	probably damaging	Het
Hcfc2	T	C	10: 82,544,905 (GRCm39)	I179T	possibly damaging	Het
Htr2c	G	A	X: 145,976,755 (GRCm39)		probably benign	Het
Irgc	G	A	7: 24,131,500 (GRCm39)	T439I	probably benign	Het
Itgae	T	A	11: 73,008,947 (GRCm39)	L476H	probably benign	Het
Jarid2	A	C	13: 45,067,801 (GRCm39)	K1070T	probably damaging	Het
Lama2	A	G	10: 26,919,652 (GRCm39)	I2193T	probably damaging	Het
Med19	A	G	2: 84,515,625 (GRCm39)	E103G	probably damaging	Het
Nav1	C	T	1: 135,397,716 (GRCm39)	D818N	probably benign	Het
Nom1	G	T	5: 29,656,124 (GRCm39)	E830*	probably null	Het
Or10g9b	T	G	9: 39,917,769 (GRCm39)	T159P	probably damaging	Het
Orai3	G	T	7: 127,369,333 (GRCm39)	R58L	probably damaging	Het
Osbpl8	T	A	10: 111,118,006 (GRCm39)	M583K	possibly damaging	Het
Pik3cb	A	T	9: 98,944,893 (GRCm39)	M624K	probably benign	Het
Rars2	G	A	4: 34,656,199 (GRCm39)	R451H	possibly damaging	Het
Rgs22	A	G	15: 36,103,951 (GRCm39)	L170P	probably benign	Het
Rps6kl1	C	A	12: 85,185,448 (GRCm39)	D417Y	probably damaging	Het
Senp6	A	G	9: 80,033,674 (GRCm39)	D106G	probably damaging	Het
Setx	C	T	2: 29,063,738 (GRCm39)		probably benign	Het
Sfswap	T	A	5: 129,616,668 (GRCm39)	Y371N	probably damaging	Het
Slc24a3	C	T	2: 145,360,322 (GRCm39)	R141C	possibly damaging	Het
Sorcs1	C	T	19: 50,171,109 (GRCm39)	W926*	probably null	Het
Steap4	A	G	5: 8,026,741 (GRCm39)	T235A	probably benign	Het
Tead2	T	A	7: 44,867,571 (GRCm39)		probably null	Het
Tll1	A	T	8: 64,470,660 (GRCm39)	L921*	probably null	Het
Tnfrsf19	T	A	14: 61,208,451 (GRCm39)	T357S	probably benign	Het
Tnik	C	A	3: 28,692,608 (GRCm39)	S825*	probably null	Het
Vil1	T	A	1: 74,469,850 (GRCm39)		probably null	Het
Vmn2r106	T	C	17: 20,497,791 (GRCm39)	K483E	probably damaging	Het
Vwa5a	G	A	9: 38,645,266 (GRCm39)	M450I	probably benign	Het
Xirp2	C	T	2: 67,344,112 (GRCm39)	P2118S	probably benign	Het

Other mutations in Or5b98

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01978:Or5b98	APN	19	12,931,406 (GRCm39)	missense	probably benign	0.00
IGL02405:Or5b98	APN	19	12,931,823 (GRCm39)	missense	probably damaging	1.00
IGL02493:Or5b98	APN	19	12,931,138 (GRCm39)	missense	probably benign	0.12
IGL02496:Or5b98	APN	19	12,931,556 (GRCm39)	missense	possibly damaging	0.86
IGL02866:Or5b98	APN	19	12,931,719 (GRCm39)	missense	possibly damaging	0.81
IGL02886:Or5b98	APN	19	12,931,882 (GRCm39)	missense	probably benign	0.00
IGL03223:Or5b98	APN	19	12,931,268 (GRCm39)	missense	probably benign	0.00
IGL03286:Or5b98	APN	19	12,931,532 (GRCm39)	missense	probably benign	0.05
IGL03396:Or5b98	APN	19	12,931,184 (GRCm39)	missense	probably damaging	1.00
R0106:Or5b98	UTSW	19	12,931,720 (GRCm39)	missense	probably benign	0.10
R0106:Or5b98	UTSW	19	12,931,720 (GRCm39)	missense	probably benign	0.10
R0544:Or5b98	UTSW	19	12,931,066 (GRCm39)	missense	possibly damaging	0.79
R1660:Or5b98	UTSW	19	12,931,055 (GRCm39)	missense	probably damaging	1.00
R2020:Or5b98	UTSW	19	12,931,696 (GRCm39)	missense	possibly damaging	0.61
R4292:Or5b98	UTSW	19	12,931,520 (GRCm39)	missense	possibly damaging	0.83
R4647:Or5b98	UTSW	19	12,931,441 (GRCm39)	missense	probably benign	0.00
R5964:Or5b98	UTSW	19	12,931,895 (GRCm39)	missense	probably benign	0.03
R6398:Or5b98	UTSW	19	12,931,681 (GRCm39)	missense	probably damaging	1.00
R6681:Or5b98	UTSW	19	12,931,823 (GRCm39)	missense	probably damaging	1.00
R7129:Or5b98	UTSW	19	12,931,478 (GRCm39)	missense	possibly damaging	0.94
R7399:Or5b98	UTSW	19	12,931,811 (GRCm39)	missense	probably damaging	1.00
R7561:Or5b98	UTSW	19	12,931,403 (GRCm39)	missense	probably benign	0.00
R7692:Or5b98	UTSW	19	12,931,006 (GRCm39)	missense	possibly damaging	0.59
R8094:Or5b98	UTSW	19	12,931,366 (GRCm39)	missense	probably benign	0.00
R8258:Or5b98	UTSW	19	12,931,727 (GRCm39)	missense	possibly damaging	0.58
R8259:Or5b98	UTSW	19	12,931,727 (GRCm39)	missense	possibly damaging	0.58
R9522:Or5b98	UTSW	19	12,931,377 (GRCm39)	nonsense	probably null

Posted On

2015-04-16