Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Or5b102'

718207

Institutional Source

Beutler Lab

Gene Symbol

Or5b102

Ensembl Gene

ENSMUSG00000094986

Gene Name

olfactory receptor family 5 subfamily B member 102

Synonyms

MOR202-14, GA_x6K02T2RE5P-3390804-3391727, Olfr1454

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13040777-13041700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13041119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 115 (S115P)

Ref Sequence

ENSEMBL: ENSMUSP00000150001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073732] [ENSMUST00000213806] [ENSMUST00000214695] [ENSMUST00000217568]

AlphaFold

Q8VFW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073732
AA Change: S115P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073409
Gene: ENSMUSG00000094986
AA Change: S115P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.1e-50	PFAM
Pfam:7tm_1	39	288	2.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213806
AA Change: S115P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214695
AA Change: S115P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217568
AA Change: S115P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,278,130 (GRCm39)	S3103R	probably benign	Het
Alg9	A	C	9: 50,717,525 (GRCm39)	Y436S	probably damaging	Het
Ankar	G	A	1: 72,719,161 (GRCm39)	R563C	probably benign	Het
Ankrd34a	C	A	3: 96,505,401 (GRCm39)	R202S	probably benign	Het
Art4	T	A	6: 136,831,613 (GRCm39)	N176I	possibly damaging	Het
Bivm	A	G	1: 44,182,250 (GRCm39)	E486G	possibly damaging	Het
Ccdc168	T	G	1: 44,098,854 (GRCm39)	D748A	probably benign	Het
Ccdc3	C	A	2: 5,143,090 (GRCm39)	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,677 (GRCm39)	D661G	probably damaging	Het
Chek1	T	C	9: 36,624,747 (GRCm39)	N368S	probably benign	Het
Dnah11	A	T	12: 117,878,352 (GRCm39)	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,248,125 (GRCm39)	I251T	probably damaging	Het
Dysf	T	A	6: 84,090,650 (GRCm39)	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,519,710 (GRCm39)	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,815,393 (GRCm39)	I344V	probably benign	Het
Ern2	T	C	7: 121,776,823 (GRCm39)	E336G	probably benign	Het
Fat4	T	C	3: 39,034,802 (GRCm39)	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,220,131 (GRCm39)	S134G	probably damaging	Het
Gm10647	T	C	9: 66,705,756 (GRCm39)	F108L	unknown	Het
Gm19410	A	T	8: 36,257,848 (GRCm39)	D762V	probably damaging	Het
Gper1	A	G	5: 139,412,138 (GRCm39)	K161R	probably benign	Het
Grin1	A	G	2: 25,187,426 (GRCm39)	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,649,897 (GRCm39)	D331E	probably benign	Het
Haus3	C	A	5: 34,325,571 (GRCm39)	W29C	probably damaging	Het
Il10ra	T	C	9: 45,167,690 (GRCm39)	E289G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnma1	T	C	14: 23,361,793 (GRCm39)	T1133A	possibly damaging	Het
Ksr1	G	A	11: 78,924,094 (GRCm39)	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,472,565 (GRCm39)	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,518,525 (GRCm39)	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501 (GRCm39)	R57*	probably null	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Nanos1	T	A	19: 60,745,413 (GRCm39)	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,324,449 (GRCm39)		probably benign	Het
Ndst3	T	A	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511 (GRCm38)	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,833 (GRCm39)	Y245C	probably damaging	Het
Npat	T	A	9: 53,473,406 (GRCm39)	D399E	probably benign	Het
Opa1	A	G	16: 29,429,738 (GRCm39)	S378G	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pex16	A	T	2: 92,209,559 (GRCm39)		probably null	Het
Plec	A	T	15: 76,058,897 (GRCm39)	I3680N	probably damaging	Het
Plin3	A	T	17: 56,591,225 (GRCm39)	V185E	probably damaging	Het
Prex1	T	A	2: 166,413,481 (GRCm39)	D1512V	probably damaging	Het
Ptpn22	T	A	3: 103,792,913 (GRCm39)	S355T	probably benign	Het
Ranbp3l	A	G	15: 9,041,991 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,351,611 (GRCm39)	I790T	probably benign	Het
Sema6d	T	C	2: 124,499,943 (GRCm39)	F340L	probably damaging	Het
Slc22a2	A	G	17: 12,828,916 (GRCm39)	T341A	probably damaging	Het
Slc6a6	T	C	6: 91,721,921 (GRCm39)	Y374H	probably damaging	Het
Slitrk3	T	G	3: 72,958,272 (GRCm39)	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,750,899 (GRCm39)	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Sox9	A	G	11: 112,676,001 (GRCm39)	T397A	possibly damaging	Het
Tnpo1	C	A	13: 99,003,621 (GRCm39)	R245L	possibly damaging	Het
Traip	T	A	9: 107,838,785 (GRCm39)	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,419 (GRCm39)	E882D	probably benign	Het
Uba6	C	A	5: 86,288,219 (GRCm39)	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,729,037 (GRCm39)	V65E	probably benign	Het
Urgcp	T	C	11: 5,668,128 (GRCm39)	D113G	probably damaging	Het
Wdr76	C	T	2: 121,372,976 (GRCm39)	T503M	probably damaging	Het
Zfp27	T	C	7: 29,593,641 (GRCm39)	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,829,395 (GRCm39)	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,155,177 (GRCm39)	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,712,817 (GRCm39)	T250N	probably damaging	Het
Zmat2	A	T	18: 36,930,958 (GRCm39)	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,062,420 (GRCm39)	L127P	probably damaging	Het

Other mutations in Or5b102

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Or5b102	APN	19	13,041,513 (GRCm39)	missense	probably damaging	1.00
IGL02942:Or5b102	APN	19	13,041,552 (GRCm39)	missense	probably benign	0.45
IGL03331:Or5b102	APN	19	13,041,231 (GRCm39)	missense	probably damaging	1.00
R0551:Or5b102	UTSW	19	13,041,658 (GRCm39)	missense	probably benign	0.01
R0738:Or5b102	UTSW	19	13,041,102 (GRCm39)	missense	probably damaging	1.00
R1532:Or5b102	UTSW	19	13,041,639 (GRCm39)	missense	probably damaging	1.00
R2072:Or5b102	UTSW	19	13,041,044 (GRCm39)	missense	probably benign	0.00
R2092:Or5b102	UTSW	19	13,041,166 (GRCm39)	nonsense	probably null
R2656:Or5b102	UTSW	19	13,041,348 (GRCm39)	missense	probably benign	0.05
R2850:Or5b102	UTSW	19	13,040,934 (GRCm39)	missense	probably damaging	1.00
R4212:Or5b102	UTSW	19	13,041,123 (GRCm39)	missense	probably damaging	0.98
R5303:Or5b102	UTSW	19	13,041,139 (GRCm39)	nonsense	probably null
R6362:Or5b102	UTSW	19	13,040,709 (GRCm39)	start gained	probably benign
R6928:Or5b102	UTSW	19	13,041,348 (GRCm39)	missense	probably benign	0.05
R7183:Or5b102	UTSW	19	13,041,680 (GRCm39)	missense	probably benign	0.00
R7701:Or5b102	UTSW	19	13,041,445 (GRCm39)	missense	probably damaging	1.00
R7741:Or5b102	UTSW	19	13,041,423 (GRCm39)	missense	probably damaging	0.98
R8057:Or5b102	UTSW	19	13,040,638 (GRCm39)	start gained	probably benign
R8272:Or5b102	UTSW	19	13,040,795 (GRCm39)	missense	possibly damaging	0.47
R8534:Or5b102	UTSW	19	13,041,432 (GRCm39)	missense	probably damaging	1.00
R8769:Or5b102	UTSW	19	13,041,307 (GRCm39)	nonsense	probably null
R9400:Or5b102	UTSW	19	13,041,139 (GRCm39)	nonsense	probably null
R9651:Or5b102	UTSW	19	13,041,256 (GRCm39)	missense	probably benign	0.01
Z1176:Or5b102	UTSW	19	13,041,010 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GGAAATCTTGGGCTGATCCTG -3'
(R):5'- ACTACATTGGACTCACAGAAGGAG -3'

Sequencing Primer
(F):5'- GGATTCTCGGCTCCACAC -3'
(R):5'- TCACAGAAGGAGAGACTTAATGCATC -3'

Posted On

2022-07-18