Mutagenetix > Incidental Mutation

Incidental Mutation 'R1895:Or8b3'

209755

Institutional Source

Beutler Lab

Gene Symbol

Or8b3

Ensembl Gene

ENSMUSG00000049098

Gene Name

olfactory receptor family 8 subfamily B member 3

Synonyms

MOR164-1, M3, GA_x6K02T2PVTD-32098059-32099003, Olfr147

MMRRC Submission

039915-MU

Accession Numbers

Essential gene?

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

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38313007-38315125 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 38314182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000149480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056364] [ENSMUST00000214648]

AlphaFold

Q60886

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056364
AA Change: M4K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051933
Gene: ENSMUSG00000049098
AA Change: M4K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	1.2e-48	PFAM
Pfam:7tm_1	44	292	2.8e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214648
AA Change: M1K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.9162

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,412,314 (GRCm39)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,365,805 (GRCm39)	I110N	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgef12	G	T	9: 42,917,152 (GRCm39)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Cdh8	T	C	8: 100,006,189 (GRCm39)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,656,829 (GRCm39)	K749N	unknown	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 50,088,981 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,835,494 (GRCm39)	D990G	probably benign	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,973,677 (GRCm39)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Glmn	T	C	5: 107,718,110 (GRCm39)	D269G	probably benign	Het
Gpatch4	A	G	3: 87,959,409 (GRCm39)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,694,767 (GRCm39)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,591,860 (GRCm39)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Kdm4b	T	A	17: 56,704,340 (GRCm39)	V272E	probably damaging	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kif11	G	A	19: 37,375,847 (GRCm39)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,411,382 (GRCm39)	T1443P	unknown	Het
Mxi1	G	A	19: 53,358,775 (GRCm39)	R236H	probably benign	Het
Nav1	A	T	1: 135,386,396 (GRCm39)	W1211R	probably damaging	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,249,785 (GRCm39)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,993,648 (GRCm39)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or6ae1	T	A	7: 139,742,726 (GRCm39)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Pakap	T	C	4: 57,638,068 (GRCm39)	V35A	probably benign	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Plekha7	T	C	7: 115,744,209 (GRCm39)	E764G	probably damaging	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Prob1	T	A	18: 35,785,942 (GRCm39)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,681,768 (GRCm39)		probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,301,775 (GRCm39)	R249C	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Stil	T	C	4: 114,881,072 (GRCm39)	S539P	probably benign	Het
Syt4	T	C	18: 31,577,141 (GRCm39)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,226,500 (GRCm39)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,031,558 (GRCm39)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het

Other mutations in Or8b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Or8b3	APN	9	38,314,317 (GRCm39)	missense	possibly damaging	0.67
IGL02109:Or8b3	APN	9	38,314,382 (GRCm39)	missense	possibly damaging	0.91
IGL02805:Or8b3	APN	9	38,315,132 (GRCm39)	utr 3 prime	probably benign
IGL02875:Or8b3	APN	9	38,314,472 (GRCm39)	missense	probably damaging	0.99
R1133:Or8b3	UTSW	9	38,315,027 (GRCm39)	missense	probably benign	0.00
R1446:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	possibly damaging	0.73
R1591:Or8b3	UTSW	9	38,314,232 (GRCm39)	missense	probably damaging	1.00
R1719:Or8b3	UTSW	9	38,314,550 (GRCm39)	missense	possibly damaging	0.67
R1946:Or8b3	UTSW	9	38,314,182 (GRCm39)	start codon destroyed	probably null	0.88
R1981:Or8b3	UTSW	9	38,315,031 (GRCm39)	missense	probably damaging	0.99
R2033:Or8b3	UTSW	9	38,314,669 (GRCm39)	missense	probably damaging	0.99
R4856:Or8b3	UTSW	9	38,314,764 (GRCm39)	missense	probably damaging	1.00
R5322:Or8b3	UTSW	9	38,314,862 (GRCm39)	missense	probably damaging	1.00
R6017:Or8b3	UTSW	9	38,314,916 (GRCm39)	missense	probably benign	0.01
R6037:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	probably benign	0.07
R6037:Or8b3	UTSW	9	38,314,601 (GRCm39)	missense	probably benign	0.07
R7032:Or8b3	UTSW	9	38,314,965 (GRCm39)	missense	possibly damaging	0.53
R7042:Or8b3	UTSW	9	38,314,196 (GRCm39)	missense	probably damaging	0.98
R7351:Or8b3	UTSW	9	38,314,739 (GRCm39)	missense	probably damaging	1.00
R7460:Or8b3	UTSW	9	38,314,649 (GRCm39)	missense	possibly damaging	0.95
R7820:Or8b3	UTSW	9	38,314,862 (GRCm39)	missense	probably damaging	1.00
R8161:Or8b3	UTSW	9	38,314,803 (GRCm39)	missense	probably damaging	0.97
R8196:Or8b3	UTSW	9	38,314,904 (GRCm39)	missense	probably damaging	1.00
R9103:Or8b3	UTSW	9	38,314,518 (GRCm39)	missense	probably damaging	1.00
R9213:Or8b3	UTSW	9	38,315,047 (GRCm39)	nonsense	probably null
R9717:Or8b3	UTSW	9	38,314,841 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGGCACACTACCTCAATAG -3'
(R):5'- AGCATTTTGGGGCTGAAGAC -3'

Sequencing Primer
(F):5'- TTCAGGTTATAAGAATAAGCATGGGC -3'
(R):5'- AATAGTACATGGGGGTGTGC -3'

Posted On

2014-06-30