Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Or5b98'

63365

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

038392-MU

Accession Numbers

Essential gene?

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

Stock #

R0106 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

12930955-12931932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12931720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 256 (I256V)

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: I256V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080666
Gene: ENSMUSG00000062892
AA Change: I256V

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: I256V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000213925
AA Change: I256V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1437

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,221,123 (GRCm39)	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,408,550 (GRCm39)	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,446,185 (GRCm39)	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cramp1	A	G	17: 25,191,350 (GRCm39)	V1037A	probably benign	Het
Cspg5	C	A	9: 110,075,600 (GRCm39)	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
Hsdl1	T	A	8: 120,292,517 (GRCm39)	S254C	probably damaging	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Kif14	T	C	1: 136,407,662 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lama3	T	C	18: 12,537,039 (GRCm39)	V228A	probably damaging	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Luzp1	A	G	4: 136,269,996 (GRCm39)	K740E	probably damaging	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or8d6	GC	G	9: 39,854,119 (GRCm39)		probably null	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Plec	C	T	15: 76,060,518 (GRCm39)	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Scube2	A	G	7: 109,446,115 (GRCm39)		probably benign	Het
Serpinb10	T	A	1: 107,474,474 (GRCm39)	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Timmdc1	A	C	16: 38,342,724 (GRCm39)	L58R	probably damaging	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmem241	A	T	18: 12,239,066 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTGTGCAAGCCCTTACATTATACC -3'
(R):5'- GCAGACTTCAACTTCTCAATGGCTTTC -3'

Sequencing Primer
(F):5'- CAAATATGACTACCAGTGTGTGTG -3'
(R):5'- CAATGGCTTTCTTGAAGGCAC -3'

Posted On

2013-07-30