Mutagenetix > Incidental Mutation

Incidental Mutation 'R3430:Or2b7'

268085

Institutional Source

Beutler Lab

Gene Symbol

Or2b7

Ensembl Gene

ENSMUSG00000054890

Gene Name

olfactory receptor family 2 subfamily B member 7

Synonyms

MOR256-63, Olfr1535, Olfr1365, MOR256-36, MOR256-36, GA_x6K02T2QHY8-11688984-11689964

MMRRC Submission

040648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21739210-21740190 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21739975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 72 (C72*)

Ref Sequence

ENSEMBL: ENSMUSP00000149589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068163] [ENSMUST00000217519]

AlphaFold

Q7TQU0

Predicted Effect

probably null
Transcript: ENSMUST00000068163
AA Change: C72*

SMART Domains

Protein: ENSMUSP00000064142
Gene: ENSMUSG00000054890
AA Change: C72*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	320	5.4e-46	PFAM
Pfam:7tm_1	41	302	1.3e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000217519
AA Change: C72*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ahnak	A	G	19: 8,984,322 (GRCm39)	I1869V	probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arhgef19	T	C	4: 140,984,111 (GRCm39)	L777P	probably benign	Het
Atf7ip	A	G	6: 136,552,322 (GRCm39)		probably benign	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Bpifa6	A	G	2: 153,831,171 (GRCm39)	I246V	probably benign	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Ccdc88a	T	A	11: 29,398,033 (GRCm39)	D255E	probably damaging	Het
Chd7	T	C	4: 8,844,517 (GRCm39)	V1542A	probably damaging	Het
Cimip1	T	C	2: 173,370,066 (GRCm39)	Y114H	possibly damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col20a1	T	A	2: 180,655,078 (GRCm39)	L1145*	probably null	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dmxl2	T	A	9: 54,384,745 (GRCm39)	N94I	possibly damaging	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Grin3a	C	A	4: 49,792,534 (GRCm39)	V400L	probably benign	Het
Htr3a	T	C	9: 48,818,688 (GRCm39)	N82S	probably benign	Het
Il23r	A	C	6: 67,429,458 (GRCm39)	S295A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama5	T	C	2: 179,838,110 (GRCm39)	K869E	probably benign	Het
Lce1d	A	T	3: 92,593,037 (GRCm39)		probably benign	Het
Lkaaear1	T	C	2: 181,339,324 (GRCm39)	D42G	probably benign	Het
Mapk8ip2	A	G	15: 89,341,485 (GRCm39)	E232G	possibly damaging	Het
Marf1	A	G	16: 13,958,041 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,440,492 (GRCm39)	H650L	probably benign	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or1e29	A	T	11: 73,667,365 (GRCm39)	S263T	probably damaging	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Or4e5	A	G	14: 52,727,882 (GRCm39)	F180L	possibly damaging	Het
Or8b3b	A	T	9: 38,584,435 (GRCm39)	F102I	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
P2ry12	C	T	3: 59,125,448 (GRCm39)	D76N	probably damaging	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Prex2	T	G	1: 11,220,078 (GRCm39)	I683S	possibly damaging	Het
Prss34	A	T	17: 25,518,078 (GRCm39)	K86I	probably benign	Het
Ptpn20	T	A	14: 33,336,485 (GRCm39)	V108D	possibly damaging	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Rsad2	T	C	12: 26,506,418 (GRCm39)	M1V	probably null	Het
S1pr5	A	G	9: 21,156,378 (GRCm39)	V16A	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Serpinb3b	A	T	1: 107,082,425 (GRCm39)	S280T	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sh3yl1	T	C	12: 31,009,841 (GRCm39)	S253P	probably benign	Het
Smarca2	A	G	19: 26,668,749 (GRCm39)	E916G	probably damaging	Het
Sptbn1	A	G	11: 30,169,686 (GRCm39)	I14T	possibly damaging	Het
Supt16	A	T	14: 52,412,816 (GRCm39)	M559K	probably benign	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tbc1d5	T	C	17: 51,107,156 (GRCm39)	K467E	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tmem131	A	G	1: 36,847,902 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,437 (GRCm39)	F706S	probably benign	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r85	T	A	10: 130,254,758 (GRCm39)	H642L	probably damaging	Het
Zfc3h1	A	G	10: 115,246,428 (GRCm39)		probably benign	Het

Other mutations in Or2b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Or2b7	APN	13	21,739,389 (GRCm39)	missense	probably damaging	0.98
IGL01866:Or2b7	APN	13	21,739,343 (GRCm39)	missense	probably benign	0.07
IGL02289:Or2b7	APN	13	21,739,758 (GRCm39)	missense	probably benign	0.02
IGL02350:Or2b7	APN	13	21,739,772 (GRCm39)	missense	probably damaging	1.00
IGL02357:Or2b7	APN	13	21,739,772 (GRCm39)	missense	probably damaging	1.00
IGL02793:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
IGL02875:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
R0785:Or2b7	UTSW	13	21,739,958 (GRCm39)	missense	probably benign	0.02
R1773:Or2b7	UTSW	13	21,739,982 (GRCm39)	missense	probably damaging	1.00
R3429:Or2b7	UTSW	13	21,739,975 (GRCm39)	nonsense	probably null
R4232:Or2b7	UTSW	13	21,739,631 (GRCm39)	missense	probably damaging	0.98
R4883:Or2b7	UTSW	13	21,739,658 (GRCm39)	missense	probably benign	0.22
R5586:Or2b7	UTSW	13	21,739,266 (GRCm39)	missense	probably damaging	1.00
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6542:Or2b7	UTSW	13	21,739,677 (GRCm39)	missense	probably damaging	0.99
R7014:Or2b7	UTSW	13	21,740,108 (GRCm39)	missense	probably benign	0.02
R7579:Or2b7	UTSW	13	21,740,176 (GRCm39)	missense	probably benign	0.08
R7598:Or2b7	UTSW	13	21,739,358 (GRCm39)	missense	probably damaging	1.00
R7982:Or2b7	UTSW	13	21,740,136 (GRCm39)	missense	probably benign
R8239:Or2b7	UTSW	13	21,739,788 (GRCm39)	missense	probably benign	0.01
R8339:Or2b7	UTSW	13	21,739,996 (GRCm39)	missense	probably damaging	0.99
R8698:Or2b7	UTSW	13	21,739,890 (GRCm39)	missense	probably damaging	1.00
R8956:Or2b7	UTSW	13	21,740,169 (GRCm39)	missense	probably benign	0.00
R8977:Or2b7	UTSW	13	21,740,016 (GRCm39)	missense	possibly damaging	0.57
RF051:Or2b7	UTSW	13	21,739,693 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGTGAGCAAGCAGTTATAACC -3'
(R):5'- GCTTCTCCAACAGACCTCAG -3'

Sequencing Primer
(F):5'- ACCATCTTTATGCAAAGCTGTGGG -3'
(R):5'- TCCAACAGACCTCAGCTGGAAAC -3'

Posted On

2015-02-18