Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Or6b1'

213433

Institutional Source

Beutler Lab

Gene Symbol

Or6b1

Ensembl Gene

ENSMUSG00000049168

Gene Name

olfactory receptor family 6 subfamily B member 1

Synonyms

Olfr449, GA_x6K02T2P3E9-4722003-4721068, MOR103-1

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42811350-42815816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42815247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 144 (L144R)

Ref Sequence

ENSEMBL: ENSMUSP00000148895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050729] [ENSMUST00000204072] [ENSMUST00000204229] [ENSMUST00000214687]

AlphaFold

Q8VGW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050729
AA Change: L144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059233
Gene: ENSMUSG00000049168
AA Change: L144R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	2.7e-52	PFAM
Pfam:7tm_1	41	288	2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203135
AA Change: L144R

SMART Domains

Protein: ENSMUSP00000144965
Gene: ENSMUSG00000049168
AA Change: L144R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	193	2.1e-32	PFAM
Pfam:7tm_1	41	193	7.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204072
AA Change: L144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000204229

SMART Domains

Protein: ENSMUSP00000145055
Gene: ENSMUSG00000049168

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	130	1.7e-20	PFAM
Pfam:7tm_1	41	130	2.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214687
AA Change: L144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	Het

Other mutations in Or6b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01904:Or6b1	APN	6	42,815,223 (GRCm39)	missense	possibly damaging	0.76
IGL02193:Or6b1	APN	6	42,815,753 (GRCm39)	utr 3 prime	probably benign
IGL02496:Or6b1	APN	6	42,815,738 (GRCm39)	missense	probably benign	0.00
IGL03302:Or6b1	APN	6	42,814,937 (GRCm39)	nonsense	probably null
IGL03333:Or6b1	APN	6	42,815,637 (GRCm39)	missense	possibly damaging	0.95
R1340:Or6b1	UTSW	6	42,814,943 (GRCm39)	missense	probably benign	0.00
R2418:Or6b1	UTSW	6	42,814,983 (GRCm39)	missense	probably benign	0.03
R4837:Or6b1	UTSW	6	42,814,783 (GRCm39)	splice site	probably null
R5466:Or6b1	UTSW	6	42,815,027 (GRCm39)	missense	probably benign	0.08
R5733:Or6b1	UTSW	6	42,815,180 (GRCm39)	missense	probably damaging	0.97
R6411:Or6b1	UTSW	6	42,815,654 (GRCm39)	missense	possibly damaging	0.57
R6626:Or6b1	UTSW	6	42,815,582 (GRCm39)	missense	probably benign	0.14
R6912:Or6b1	UTSW	6	42,815,736 (GRCm39)	missense	probably benign
R7278:Or6b1	UTSW	6	42,811,330 (GRCm39)	splice site	probably null
R7399:Or6b1	UTSW	6	42,815,680 (GRCm39)	nonsense	probably null
R7703:Or6b1	UTSW	6	42,814,938 (GRCm39)	missense	probably damaging	1.00
R8325:Or6b1	UTSW	6	42,815,124 (GRCm39)	missense	probably damaging	1.00
R9182:Or6b1	UTSW	6	42,815,010 (GRCm39)	missense	probably benign	0.05
Z1176:Or6b1	UTSW	6	42,814,911 (GRCm39)	missense	probably damaging	1.00
Z1177:Or6b1	UTSW	6	42,815,310 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTGTCTTTCTTGGAGACCTG -3'
(R):5'- AGTCCACCAGCTCTGCAATG -3'

Sequencing Primer
(F):5'- CAGCTTCTGGTCCATGAGTAACAG -3'
(R):5'- AGCTCTGCAATGGACATGTC -3'

Posted On

2014-07-14