Mutagenetix > Incidental Mutation

Incidental Mutation 'R5522:Or3a1b'

431629

Institutional Source

Beutler Lab

Gene Symbol

Or3a1b

Ensembl Gene

ENSMUSG00000070380

Gene Name

olfactory receptor family 3 subfamily A member 1B

Synonyms

GA_x6K02T2P1NL-4278037-4278984, Olfr401, MOR255-6

MMRRC Submission

043081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74012117-74013064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74012484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 123 (Y123C)

Ref Sequence

ENSEMBL: ENSMUSP00000149542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079827] [ENSMUST00000213754]

AlphaFold

Q8VFX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000079827
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000078756
Gene: ENSMUSG00000070380
AA Change: Y123C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.4e-51	PFAM
Pfam:7tm_1	44	293	2.2e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213754
AA Change: Y123C

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

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 93.9%
20x: 85.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,649,704 (GRCm39)	Y121H	possibly damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,731,671 (GRCm39)		probably null	Het
Cd69	A	T	6: 129,248,379 (GRCm39)	S36T	probably damaging	Het
Ceacam5	A	T	7: 17,449,005 (GRCm39)	I124L	probably benign	Het
Cerkl	T	C	2: 79,223,328 (GRCm39)	H131R	probably benign	Het
Cfap57	A	T	4: 118,453,085 (GRCm39)	N539K	probably benign	Het
Cyp4x1	C	A	4: 114,979,174 (GRCm39)	W141L	probably damaging	Het
Dlgap1	T	C	17: 70,823,993 (GRCm39)		probably null	Het
Dnaaf9	G	A	2: 130,656,222 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,296,954 (GRCm39)	I5781T	possibly damaging	Het
Epha2	T	A	4: 141,035,867 (GRCm39)	V101E	probably damaging	Het
Exph5	T	C	9: 53,285,613 (GRCm39)	F898S	possibly damaging	Het
Fyco1	G	A	9: 123,623,836 (GRCm39)	R1398*	probably null	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grb10	T	C	11: 11,886,746 (GRCm39)	I508V	probably benign	Het
Igf1r	C	A	7: 67,833,258 (GRCm39)	Q473K	probably damaging	Het
Ighv1-66	T	A	12: 115,556,755 (GRCm39)	D109V	probably damaging	Het
Ipmk	C	A	10: 71,199,304 (GRCm39)	T55K	probably benign	Het
Kdm2b	A	G	5: 123,087,225 (GRCm39)	Y192H	probably damaging	Het
Krt32	A	T	11: 99,977,497 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,620 (GRCm39)	L178Q	possibly damaging	Het
Mchr1	A	T	15: 81,122,211 (GRCm39)	K320N	possibly damaging	Het
Mdn1	T	C	4: 32,685,783 (GRCm39)	L858S	probably damaging	Het
Myo3a	T	A	2: 22,464,353 (GRCm39)	F198Y	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfatc1	T	C	18: 80,696,744 (GRCm39)	T647A	probably benign	Het
Nuf2	A	G	1: 169,326,453 (GRCm39)	Y433H	probably damaging	Het
Nup210l	T	C	3: 90,061,972 (GRCm39)	V717A	probably benign	Het
Or5h17	A	T	16: 58,820,268 (GRCm39)	L73F	probably benign	Het
Or6c35	A	T	10: 129,168,798 (GRCm39)	D16V	probably damaging	Het
Pbrm1	A	G	14: 30,811,520 (GRCm39)	Y1210C	probably damaging	Het
Pcdhb6	A	G	18: 37,467,402 (GRCm39)	I108V	probably benign	Het
Plac8	T	A	5: 100,710,584 (GRCm39)	T6S	probably benign	Het
Plbd1	A	T	6: 136,594,298 (GRCm39)	V317E	probably benign	Het
Rars1	A	T	11: 35,708,195 (GRCm39)	Y406*	probably null	Het
Scamp3	T	C	3: 89,084,929 (GRCm39)	F11L	possibly damaging	Het
Sctr	A	G	1: 119,964,146 (GRCm39)	N142S	probably benign	Het
Sh2d4a	T	C	8: 68,749,349 (GRCm39)	S128P	probably benign	Het
Snrnp70	C	T	7: 45,026,601 (GRCm39)		probably benign	Het
Taf3	T	C	2: 9,945,816 (GRCm39)	K596R	probably damaging	Het
Tango6	T	C	8: 107,422,230 (GRCm39)		probably null	Het
Taok3	A	G	5: 117,411,822 (GRCm39)	T414A	probably benign	Het
Tmem104	G	A	11: 115,079,149 (GRCm39)		probably null	Het
Tmem231	T	A	8: 112,645,042 (GRCm39)	S155C	possibly damaging	Het
Tssk3	G	A	4: 129,383,343 (GRCm39)	R110W	possibly damaging	Het
Ugt2b37	T	C	5: 87,388,759 (GRCm39)	T485A	probably benign	Het
Unc5b	T	C	10: 60,613,974 (GRCm39)	K292E	possibly damaging	Het
Upf3a	T	A	8: 13,845,497 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,229,918 (GRCm39)	V797E	probably damaging	Het
Vcan	T	C	13: 89,839,929 (GRCm39)	T1872A	possibly damaging	Het
Vmn1r195	A	G	13: 22,463,120 (GRCm39)	M197V	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Xab2	A	T	8: 3,661,718 (GRCm39)	D578E	probably benign	Het
Xpo7	A	T	14: 70,909,090 (GRCm39)	Y810*	probably null	Het
Zcchc2	A	G	1: 105,951,426 (GRCm39)	N587S	probably benign	Het
Zfp189	C	T	4: 49,529,739 (GRCm39)	R281*	probably null	Het
Zranb1	T	C	7: 132,585,678 (GRCm39)	*735R	probably null	Het

Other mutations in Or3a1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Or3a1b	APN	11	74,012,705 (GRCm39)	missense	probably benign	0.00
IGL01303:Or3a1b	APN	11	74,012,160 (GRCm39)	missense	probably damaging	1.00
IGL01397:Or3a1b	APN	11	74,012,590 (GRCm39)	missense	probably damaging	0.97
IGL02101:Or3a1b	APN	11	74,012,571 (GRCm39)	nonsense	probably null
IGL02121:Or3a1b	APN	11	74,012,113 (GRCm39)	splice site	probably benign
IGL02347:Or3a1b	APN	11	74,012,397 (GRCm39)	missense	probably benign	0.03
IGL03113:Or3a1b	APN	11	74,012,529 (GRCm39)	missense	probably benign	0.13
IGL03126:Or3a1b	APN	11	74,012,610 (GRCm39)	missense	probably benign	0.01
IGL03302:Or3a1b	APN	11	74,012,459 (GRCm39)	missense	possibly damaging	0.60
R0549:Or3a1b	UTSW	11	74,012,301 (GRCm39)	missense	probably damaging	1.00
R1180:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R1350:Or3a1b	UTSW	11	74,013,039 (GRCm39)	missense	possibly damaging	0.96
R1800:Or3a1b	UTSW	11	74,012,234 (GRCm39)	missense	probably benign	0.00
R1808:Or3a1b	UTSW	11	74,012,257 (GRCm39)	missense	probably damaging	0.96
R1962:Or3a1b	UTSW	11	74,012,650 (GRCm39)	missense	probably benign	0.02
R1998:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R1999:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R2000:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R2859:Or3a1b	UTSW	11	74,012,808 (GRCm39)	missense	probably damaging	1.00
R4914:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4915:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4916:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4918:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R5292:Or3a1b	UTSW	11	74,012,877 (GRCm39)	missense	probably damaging	0.99
R5761:Or3a1b	UTSW	11	74,012,335 (GRCm39)	missense	probably damaging	0.97
R6318:Or3a1b	UTSW	11	74,012,547 (GRCm39)	missense	possibly damaging	0.82
R6608:Or3a1b	UTSW	11	74,012,454 (GRCm39)	missense	probably benign	0.00
R6737:Or3a1b	UTSW	11	74,012,732 (GRCm39)	missense	probably benign
R6790:Or3a1b	UTSW	11	74,012,427 (GRCm39)	missense	probably damaging	1.00
R7243:Or3a1b	UTSW	11	74,012,559 (GRCm39)	missense	probably damaging	0.97
R7423:Or3a1b	UTSW	11	74,012,811 (GRCm39)	missense	probably benign	0.01
R7517:Or3a1b	UTSW	11	74,012,335 (GRCm39)	missense	probably damaging	0.97
R7833:Or3a1b	UTSW	11	74,012,663 (GRCm39)	missense	probably damaging	1.00
R8241:Or3a1b	UTSW	11	74,013,035 (GRCm39)	missense	probably benign	0.03
R8423:Or3a1b	UTSW	11	74,012,492 (GRCm39)	missense	probably benign	0.06
R8937:Or3a1b	UTSW	11	74,012,874 (GRCm39)	missense	probably benign	0.03
R9145:Or3a1b	UTSW	11	74,012,526 (GRCm39)	missense	probably benign	0.01
R9725:Or3a1b	UTSW	11	74,012,612 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCTTCCTGGGGAATCTGTCAG -3'
(R):5'- TGATCTGGGTACTGGAGCAG -3'

Sequencing Primer
(F):5'- CCTGGGGAATCTGTCAGTGATG -3'
(R):5'- GTCGCAGTAGAAGTTGTCAATCAC -3'

Posted On

2016-10-05