Mutagenetix > Incidental Mutation

Incidental Mutation 'R3743:Or2b11'

270457

Institutional Source

Beutler Lab

Gene Symbol

Or2b11

Ensembl Gene

ENSMUSG00000059610

Gene Name

olfactory receptor family 2 subfamily B member 11

Synonyms

GA_x6K02SYYHDF-1415-2371, MOR256-45P, Olfr222

MMRRC Submission

040729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R3743 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59461608-59462564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59462335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 77 (Y77C)

Ref Sequence

ENSEMBL: ENSMUSP00000149533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071943] [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000214351] [ENSMUST00000215339]

AlphaFold

Q7TS30

Predicted Effect

probably damaging
Transcript: ENSMUST00000071943
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000071835
Gene: ENSMUSG00000059610
AA Change: Y77C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	29	311	4.3e-9	PFAM
Pfam:7tm_4	35	312	3.4e-54	PFAM
Pfam:7tm_1	45	294	1.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079476

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691

Domain	Start	End	E-Value	Type
PYRIN	4	87	6.39e-33	SMART
FISNA	135	206	1.45e-22	SMART
Pfam:NACHT	216	385	6.7e-52	PFAM
low complexity region	533	539	N/A	INTRINSIC
low complexity region	688	697	N/A	INTRINSIC
LRR_RI	737	764	1.07e-9	SMART
LRR	766	793	5.13e1	SMART
LRR	794	821	3.86e-7	SMART
LRR	823	850	1.62e0	SMART
LRR	851	878	3.39e-3	SMART
LRR	880	907	1.2e2	SMART
LRR	908	935	2.24e-3	SMART
LRR	937	964	2.16e2	SMART
LRR	965	992	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101148

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691

Domain	Start	End	E-Value	Type
PYRIN	4	87	6.39e-33	SMART
FISNA	135	206	1.45e-22	SMART
Pfam:NACHT	216	385	6.7e-52	PFAM
low complexity region	533	539	N/A	INTRINSIC
low complexity region	688	697	N/A	INTRINSIC
LRR_RI	737	764	1.07e-9	SMART
LRR	766	793	5.13e1	SMART
LRR	794	821	3.86e-7	SMART
LRR	823	850	1.62e0	SMART
LRR	851	878	3.39e-3	SMART
LRR	880	907	1.2e2	SMART
LRR	908	935	2.24e-3	SMART
LRR	937	964	2.16e2	SMART
LRR	965	992	8.73e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000214351
AA Change: Y77C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215339
AA Change: Y77C

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

Meta Mutation Damage Score

0.2248

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,182,348 (GRCm39)	R168G	probably damaging	Het
1700030K09Rik	A	G	8: 73,199,013 (GRCm39)	H140R	probably benign	Het
Adamts10	A	G	17: 33,747,686 (GRCm39)	I41V	probably damaging	Het
Arnt	T	C	3: 95,382,016 (GRCm39)	V198A	possibly damaging	Het
Atg3	A	G	16: 44,998,591 (GRCm39)		probably null	Het
Atmin	T	C	8: 117,683,312 (GRCm39)	V324A	probably benign	Het
Ccdc88c	G	A	12: 100,914,843 (GRCm39)	R464C	probably damaging	Het
Ccr7	G	T	11: 99,036,033 (GRCm39)	S296R	possibly damaging	Het
Cdh12	T	A	15: 21,537,745 (GRCm39)	S415R	probably damaging	Het
Cep162	A	T	9: 87,099,230 (GRCm39)		probably benign	Het
Chd3	G	A	11: 69,254,876 (GRCm39)	R61*	probably null	Het
Cr2	A	G	1: 194,832,274 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,247,846 (GRCm39)	S305P	probably benign	Het
Cyp4a31	A	C	4: 115,423,716 (GRCm39)	Q140P	possibly damaging	Het
Dhx40	A	T	11: 86,661,985 (GRCm39)	W691R	probably damaging	Het
Dlgap1	G	A	17: 71,025,221 (GRCm39)		probably null	Het
Entr1	A	G	2: 26,278,655 (GRCm39)		probably benign	Het
Exoc5	T	C	14: 49,251,806 (GRCm39)	I582V	probably benign	Het
Exoc5	A	T	14: 49,270,864 (GRCm39)	L387*	probably null	Het
Fbxw8	A	G	5: 118,251,704 (GRCm39)	S270P	probably damaging	Het
Fgf14	C	A	14: 124,914,032 (GRCm39)	G33V	probably benign	Het
Hoxd9	T	A	2: 74,528,710 (GRCm39)	V104E	probably damaging	Het
Igsf10	T	C	3: 59,233,546 (GRCm39)	H1729R	possibly damaging	Het
Irf8	C	T	8: 121,480,310 (GRCm39)	R274C	probably damaging	Het
Itgb4	G	A	11: 115,894,496 (GRCm39)	M1350I	probably damaging	Het
Lrrn4	A	G	2: 132,711,786 (GRCm39)		probably null	Het
Map3k6	C	T	4: 132,972,384 (GRCm39)	T320I	probably benign	Het
Morc2a	A	G	11: 3,633,700 (GRCm39)	E604G	possibly damaging	Het
Mtmr6	T	C	14: 60,537,747 (GRCm39)	I582T	probably benign	Het
Ninl	A	G	2: 150,792,168 (GRCm39)	V785A	probably benign	Het
Obscn	T	C	11: 58,969,911 (GRCm39)	E77G	probably damaging	Het
Or2n1	T	G	17: 38,486,793 (GRCm39)	F273V	probably damaging	Het
Or4f61	A	G	2: 111,922,965 (GRCm39)	L27P	probably benign	Het
Pcdhb2	A	G	18: 37,429,470 (GRCm39)	D124G	probably damaging	Het
Pfkl	G	A	10: 77,832,179 (GRCm39)	T304M	probably damaging	Het
Ppil4	T	A	10: 7,696,935 (GRCm39)	S483T	unknown	Het
Slc7a10	C	T	7: 34,898,325 (GRCm39)	T332I	probably damaging	Het
Spats2	T	C	15: 99,108,795 (GRCm39)	S382P	probably benign	Het
Stpg1	T	A	4: 135,242,197 (GRCm39)	D70E	probably benign	Het
Tmprss11e	G	A	5: 86,857,315 (GRCm39)	Q333*	probably null	Het
Trpv1	A	T	11: 73,145,128 (GRCm39)	D430V	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Zc3h6	A	G	2: 128,839,712 (GRCm39)	Y175C	probably damaging	Het

Other mutations in Or2b11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0140:Or2b11	UTSW	11	59,461,804 (GRCm39)	missense	probably damaging	1.00
R3830:Or2b11	UTSW	11	59,462,427 (GRCm39)	missense	probably damaging	1.00
R5593:Or2b11	UTSW	11	59,461,874 (GRCm39)	missense	possibly damaging	0.62
R6538:Or2b11	UTSW	11	59,462,411 (GRCm39)	missense	probably benign	0.25
R6641:Or2b11	UTSW	11	59,461,666 (GRCm39)	missense	possibly damaging	0.62
R7074:Or2b11	UTSW	11	59,461,835 (GRCm39)	missense	probably damaging	1.00
R8121:Or2b11	UTSW	11	59,461,870 (GRCm39)	missense	probably damaging	0.98
R9334:Or2b11	UTSW	11	59,462,272 (GRCm39)	missense	probably damaging	1.00
X0028:Or2b11	UTSW	11	59,462,344 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATAGCATAGCGGAGTGGCTC -3'
(R):5'- TGACAACCACAGCTGCTTCTG -3'

Sequencing Primer
(F):5'- TCACAGATGGCCACGTAGC -3'
(R):5'- ACAGCTGCTTCTGGGACAC -3'

Posted On

2015-03-18