Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Or5b98'

552552

Institutional Source

Beutler Lab

Gene Symbol

Or5b98

Ensembl Gene

ENSMUSG00000062892

Gene Name

olfactory receptor family 5 subfamily B member 98

Synonyms

Olfr1450, GA_x6K02T2RE5P-3283121-3284098, MOR202-33

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12930955-12931932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12931478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 175 (H175L)

Ref Sequence

ENSEMBL: ENSMUSP00000150243 (fasta)

Gene Model

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

AlphaFold

Q8VF19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082006
AA Change: H175L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080666
Gene: ENSMUSG00000062892
AA Change: H175L

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

possibly damaging
Transcript: ENSMUST00000213587
AA Change: H175L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213925
AA Change: H175L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	probably damaging	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
IGL02378:Or5b98	APN	19	12,931,747 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTTGACAGGCATGCTGC -3'
(R):5'- CATGGAATGACTAGAACTGGGC -3'

Sequencing Primer
(F):5'- GCAGTGTGCAAGCCCTTACATTATAC -3'
(R):5'- CACAAGTAGAGGAGGCCTTCTTC -3'

Posted On

2019-05-15