Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Or8b3b'

705562

Institutional Source

Beutler Lab

Gene Symbol

Or8b3b

Ensembl Gene

ENSMUSG00000046150

Gene Name

olfactory receptor family 8 subfamily B member 3B

Synonyms

GA_x6K02T2PVTD-32375756-32374818, MOR164-3, Olfr918

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38583800-38584777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38583925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 272 (S272P)

Ref Sequence

ENSEMBL: ENSMUSP00000150182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055099] [ENSMUST00000215461]

AlphaFold

E9PVZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055099
AA Change: S285P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: S285P

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:7tm_4	44	319	6.5e-48	PFAM
Pfam:7tm_1	54	301	3.9e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215461
AA Change: S272P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Elp3	A	T	14: 65,823,788 (GRCm39)	D78E	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Myh7b	A	G	2: 155,463,253 (GRCm39)	H495R	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Plppr4	G	T	3: 117,119,518 (GRCm39)	T297K	probably damaging	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,310,539 (GRCm39)	N312K	probably damaging	Het
Sh3glb1	A	C	3: 144,397,659 (GRCm39)		probably null	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	probably damaging	Het

Other mutations in Or8b3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or8b3b	APN	9	38,584,320 (GRCm39)	missense	probably benign	0.01
IGL01388:Or8b3b	APN	9	38,584,379 (GRCm39)	nonsense	probably null
IGL01516:Or8b3b	APN	9	38,584,159 (GRCm39)	missense	probably benign	0.09
IGL02121:Or8b3b	APN	9	38,584,711 (GRCm39)	missense	probably damaging	0.98
IGL02209:Or8b3b	APN	9	38,584,342 (GRCm39)	missense	possibly damaging	0.84
IGL02256:Or8b3b	APN	9	38,584,776 (GRCm39)	start codon destroyed	probably null
IGL02517:Or8b3b	APN	9	38,584,209 (GRCm39)	missense	probably damaging	1.00
IGL02648:Or8b3b	APN	9	38,584,312 (GRCm39)	missense	probably benign
IGL02747:Or8b3b	APN	9	38,584,380 (GRCm39)	missense	probably benign	0.11
IGL02971:Or8b3b	APN	9	38,584,564 (GRCm39)	missense	probably damaging	0.96
E0370:Or8b3b	UTSW	9	38,583,857 (GRCm39)	missense	probably damaging	0.99
R0616:Or8b3b	UTSW	9	38,584,776 (GRCm39)	start codon destroyed	probably null
R2173:Or8b3b	UTSW	9	38,584,240 (GRCm39)	missense	probably benign	0.03
R2989:Or8b3b	UTSW	9	38,583,831 (GRCm39)	missense	probably benign
R3430:Or8b3b	UTSW	9	38,584,435 (GRCm39)	missense	probably damaging	1.00
R3809:Or8b3b	UTSW	9	38,584,159 (GRCm39)	missense	probably benign	0.09
R4688:Or8b3b	UTSW	9	38,584,659 (GRCm39)	missense	probably damaging	1.00
R4702:Or8b3b	UTSW	9	38,584,776 (GRCm39)	start codon destroyed	probably null
R5548:Or8b3b	UTSW	9	38,584,600 (GRCm39)	missense	probably benign	0.00
R5590:Or8b3b	UTSW	9	38,584,261 (GRCm39)	missense	probably damaging	1.00
R6082:Or8b3b	UTSW	9	38,583,866 (GRCm39)	missense	probably damaging	1.00
R6214:Or8b3b	UTSW	9	38,584,510 (GRCm39)	missense	probably benign	0.13
R6215:Or8b3b	UTSW	9	38,584,510 (GRCm39)	missense	probably benign	0.13
R6893:Or8b3b	UTSW	9	38,584,355 (GRCm39)	missense	possibly damaging	0.95
R7215:Or8b3b	UTSW	9	38,584,743 (GRCm39)	missense	probably benign	0.05
R7624:Or8b3b	UTSW	9	38,583,919 (GRCm39)	missense	probably benign	0.18
R7862:Or8b3b	UTSW	9	38,584,624 (GRCm39)	missense	probably benign	0.01
R8116:Or8b3b	UTSW	9	38,584,464 (GRCm39)	missense	possibly damaging	0.93
R8897:Or8b3b	UTSW	9	38,584,147 (GRCm39)	missense	probably damaging	1.00
R8899:Or8b3b	UTSW	9	38,584,147 (GRCm39)	missense	probably damaging	1.00
R9114:Or8b3b	UTSW	9	38,583,892 (GRCm39)	missense	probably benign
R9293:Or8b3b	UTSW	9	38,584,414 (GRCm39)	missense	probably damaging	1.00
R9690:Or8b3b	UTSW	9	38,584,477 (GRCm39)	nonsense	probably null
R9734:Or8b3b	UTSW	9	38,584,239 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTGTTGGAAGCAGCAGTAAAG -3'
(R):5'- GGGTATTAACATCACAGTCCCCAG -3'

Sequencing Primer
(F):5'- TGTTGGAAGCAGCAGTAAAGTTGAAG -3'
(R):5'- TTAACATCACAGTCCCCAGCTTCAC -3'

Posted On

2022-03-25