Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Or2b7'

587852

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

045641-MU

Accession Numbers

Essential gene?

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

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21739210-21740190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21739358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 278 (Y278C)

Ref Sequence

ENSEMBL: ENSMUSP00000149589 (fasta)

Gene Model

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

AlphaFold

Q7TQU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068163
AA Change: Y278C

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

SMART Domains

Protein: ENSMUSP00000064142
Gene: ENSMUSG00000054890
AA Change: Y278C

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 damaging
Transcript: ENSMUST00000217519
AA Change: Y278C

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

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	probably damaging	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
R3430: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
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'- AGAAGTCTCCCAAAGCTTAAGTG -3'
(R):5'- GCTGAACTCTTTGCTGTCAG -3'

Sequencing Primer
(F):5'- CCCAAAGCTTAAGTGTTTAGGACTGC -3'
(R):5'- GAACTCTTTGCTGTCAGTGTCTTC -3'

Posted On

2019-10-24