Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Or3a1b'

445318

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

043363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74012117-74013064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74012335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 73 (D73E)

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: D73E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078756
Gene: ENSMUSG00000070380
AA Change: D73E

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: D73E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.5738

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Akap8	A	T	17: 32,536,159 (GRCm39)	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,068,927 (GRCm39)	R19L	probably damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 79,968,067 (GRCm39)		probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Map2k6	T	G	11: 110,290,197 (GRCm39)		probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	probably damaging	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
R5522:Or3a1b	UTSW	11	74,012,484 (GRCm39)	missense	probably damaging	1.00
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'- GCCAACGGAACCACTGTTAC -3'
(R):5'- ACCAAAATTCTCTGCACTGAATGG -3'

Sequencing Primer
(F):5'- CGGAACCACTGTTACTGAATTC -3'
(R):5'- AATGGTTCATTCGGGTGCTATAG -3'

Posted On

2016-11-21