Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Or2ag1b'

37205

Institutional Source

Beutler Lab

Gene Symbol

Or2ag1b

Ensembl Gene

ENSMUSG00000064223

Gene Name

olfactory receptor family 2 subfamily AG member 1B

Synonyms

MOR283-9, GA_x6K02T2PBJ9-9067220-9066273, Olfr694

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0239 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106287989-106288936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106288462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 159 (Y159H)

Ref Sequence

ENSEMBL: ENSMUSP00000151027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052535] [ENSMUST00000082091] [ENSMUST00000216118] [ENSMUST00000216895]

AlphaFold

K7N641

Predicted Effect

probably benign
Transcript: ENSMUST00000052535
AA Change: Y159H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: Y159H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.1e-43	PFAM
Pfam:7tm_1	41	290	9.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082091
AA Change: Y159H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: Y159H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.6e-6	PFAM
Pfam:7tm_1	41	290	7.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208331

Predicted Effect

probably benign
Transcript: ENSMUST00000216118
AA Change: Y159H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216895
AA Change: Y159H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

100% (3/3)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	probably damaging	Het

Other mutations in Or2ag1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Or2ag1b	APN	7	106,288,738 (GRCm39)	missense	probably damaging	1.00
IGL01759:Or2ag1b	APN	7	106,288,540 (GRCm39)	missense	probably benign	0.04
IGL02435:Or2ag1b	APN	7	106,288,710 (GRCm39)	missense	probably benign	0.26
IGL02569:Or2ag1b	APN	7	106,288,849 (GRCm39)	missense	probably benign	0.19
IGL02611:Or2ag1b	APN	7	106,287,996 (GRCm39)	missense	probably benign	0.11
IGL02726:Or2ag1b	APN	7	106,288,577 (GRCm39)	nonsense	probably null
IGL02944:Or2ag1b	APN	7	106,288,476 (GRCm39)	missense	probably damaging	1.00
IGL03155:Or2ag1b	APN	7	106,288,446 (GRCm39)	missense	probably damaging	1.00
R0238:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0238:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0239:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0609:Or2ag1b	UTSW	7	106,288,205 (GRCm39)	missense	probably damaging	1.00
R0655:Or2ag1b	UTSW	7	106,288,632 (GRCm39)	missense	probably damaging	1.00
R1562:Or2ag1b	UTSW	7	106,288,187 (GRCm39)	missense	probably benign	0.01
R1641:Or2ag1b	UTSW	7	106,288,918 (GRCm39)	missense	probably benign	0.36
R2144:Or2ag1b	UTSW	7	106,288,164 (GRCm39)	missense	probably damaging	0.99
R4416:Or2ag1b	UTSW	7	106,288,218 (GRCm39)	missense	probably benign	0.07
R4444:Or2ag1b	UTSW	7	106,288,353 (GRCm39)	missense	possibly damaging	0.60
R4445:Or2ag1b	UTSW	7	106,288,353 (GRCm39)	missense	possibly damaging	0.60
R4567:Or2ag1b	UTSW	7	106,288,420 (GRCm39)	nonsense	probably null
R4739:Or2ag1b	UTSW	7	106,288,351 (GRCm39)	nonsense	probably null
R4778:Or2ag1b	UTSW	7	106,288,874 (GRCm39)	missense	probably damaging	0.97
R4908:Or2ag1b	UTSW	7	106,288,740 (GRCm39)	missense	probably damaging	1.00
R5244:Or2ag1b	UTSW	7	106,288,396 (GRCm39)	missense	probably benign	0.12
R5944:Or2ag1b	UTSW	7	106,288,853 (GRCm39)	nonsense	probably null
R6260:Or2ag1b	UTSW	7	106,288,079 (GRCm39)	missense	probably damaging	1.00
R6573:Or2ag1b	UTSW	7	106,288,670 (GRCm39)	missense	probably benign	0.00
R6901:Or2ag1b	UTSW	7	106,288,396 (GRCm39)	missense	probably benign	0.03
R7230:Or2ag1b	UTSW	7	106,288,731 (GRCm39)	missense	possibly damaging	0.94
R7420:Or2ag1b	UTSW	7	106,288,227 (GRCm39)	missense	possibly damaging	0.74
R7426:Or2ag1b	UTSW	7	106,288,417 (GRCm39)	missense	possibly damaging	0.88
R8400:Or2ag1b	UTSW	7	106,288,876 (GRCm39)	missense	probably benign	0.25
R8879:Or2ag1b	UTSW	7	106,288,296 (GRCm39)	missense	probably damaging	1.00
R9284:Or2ag1b	UTSW	7	106,288,416 (GRCm39)	missense	possibly damaging	0.88
R9304:Or2ag1b	UTSW	7	106,288,880 (GRCm39)	missense	probably benign	0.04
U24488:Or2ag1b	UTSW	7	106,288,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCAACCACAGTCAGATGGGAAG -3'
(R):5'- GAACTGACACTTGGTAGTGCAGAGG -3'

Sequencing Primer
(F):5'- CATGTGCAGCACAGTGAATAG -3'
(R):5'- TGGTAGTGCAGAGGACCTCC -3'

Posted On

2013-05-09