Mutagenetix > Incidental Mutation

Incidental Mutation 'R1436:Or2ad1'

160662

Institutional Source

Beutler Lab

Gene Symbol

Or2ad1

Ensembl Gene

ENSMUSG00000045474

Gene Name

olfactory receptor family 2 subfamily AD member 1

Synonyms

MOR256-15, Olfr1368, GA_x6K02T2QHY8-12104556-12105500

MMRRC Submission

039491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21326281-21327225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21327162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 22 (Q22K)

Ref Sequence

ENSEMBL: ENSMUSP00000149549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055298] [ENSMUST00000216039]

AlphaFold

Q8VFG3

Predicted Effect

probably benign
Transcript: ENSMUST00000055298
AA Change: Q22K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000050942
Gene: ENSMUSG00000045474
AA Change: Q22K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.8e-49	PFAM
Pfam:7tm_1	41	290	1.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206267
AA Change: Q22K

Predicted Effect

probably benign
Transcript: ENSMUST00000216039
AA Change: Q22K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

94% (65/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,621,172 (GRCm39)	F292S	probably benign	Het
Aadacl2fm3	A	T	3: 59,772,760 (GRCm39)	D88V	probably damaging	Het
Abca13	T	C	11: 9,242,646 (GRCm39)	V1503A	probably damaging	Het
AI661453	C	T	17: 47,777,627 (GRCm39)		probably benign	Het
Ano2	T	C	6: 125,844,134 (GRCm39)		probably null	Het
Areg	G	T	5: 91,287,664 (GRCm39)		probably benign	Het
Atg16l2	A	G	7: 100,940,757 (GRCm39)	V453A	probably damaging	Het
BC034090	A	G	1: 155,101,662 (GRCm39)	S563P	probably benign	Het
Bhmt-ps1	A	G	4: 26,369,591 (GRCm39)		noncoding transcript	Het
Birc6	C	A	17: 74,959,700 (GRCm39)	P3855Q	probably damaging	Het
Cd151	A	T	7: 141,049,197 (GRCm39)	K8M	probably damaging	Het
Cd163	T	C	6: 124,304,890 (GRCm39)	V1089A	possibly damaging	Het
Chd3	A	T	11: 69,248,400 (GRCm39)		probably null	Het
Cnot6l	T	A	5: 96,281,971 (GRCm39)	E9V	probably damaging	Het
Col22a1	A	G	15: 71,794,806 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,729,484 (GRCm39)	M1T	probably null	Het
Dbp	T	C	7: 45,357,879 (GRCm39)	V149A	probably damaging	Het
Dnah10	T	C	5: 124,839,285 (GRCm39)	V1241A	probably benign	Het
Galnt10	T	C	11: 57,662,295 (GRCm39)	S314P	probably damaging	Het
Glce	C	T	9: 61,977,292 (GRCm39)		probably null	Het
Gm5093	C	G	17: 46,750,680 (GRCm39)	D116H	probably damaging	Het
Golim4	A	G	3: 75,785,951 (GRCm39)		probably null	Het
Helz2	A	T	2: 180,877,317 (GRCm39)	I1107N	probably damaging	Het
Hoxc9	T	C	15: 102,890,304 (GRCm39)	S74P	probably benign	Het
Ikbkb	T	A	8: 23,163,419 (GRCm39)	N297I	probably benign	Het
Il20ra	T	A	10: 19,625,000 (GRCm39)	I93N	probably damaging	Het
Itch	C	A	2: 155,034,065 (GRCm39)	N412K	probably damaging	Het
Kcna5	T	A	6: 126,511,724 (GRCm39)	T135S	probably damaging	Het
Lncpint	G	A	6: 31,157,974 (GRCm39)		noncoding transcript	Het
Lrrc39	A	T	3: 116,373,293 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Moxd1	C	T	10: 24,120,256 (GRCm39)	T128M	probably damaging	Het
Mpeg1	C	T	19: 12,439,823 (GRCm39)	S427F	probably damaging	Het
Nckap5	T	C	1: 125,953,798 (GRCm39)	Y854C	possibly damaging	Het
Ncln	C	T	10: 81,325,727 (GRCm39)	E373K	probably damaging	Het
Neurod4	T	C	10: 130,106,540 (GRCm39)	T245A	possibly damaging	Het
Nsun5	T	C	5: 135,399,067 (GRCm39)	L39P	probably damaging	Het
Or4c105	A	T	2: 88,648,336 (GRCm39)	T274S	possibly damaging	Het
Or4f7	A	G	2: 111,644,906 (GRCm39)	L55S	probably damaging	Het
Pde8b	T	C	13: 95,162,678 (GRCm39)	T815A	probably benign	Het
Pofut2	C	T	10: 77,104,398 (GRCm39)	R392W	probably damaging	Het
Ppip5k2	G	A	1: 97,639,507 (GRCm39)	T1186I	probably benign	Het
Rhot2	A	C	17: 26,060,374 (GRCm39)	S277R	probably benign	Het
Satb1	T	G	17: 52,111,391 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,524,634 (GRCm39)	I88V	probably damaging	Het
Selenon	T	A	4: 134,267,997 (GRCm39)	E483V	probably damaging	Het
Serpinc1	A	G	1: 160,820,981 (GRCm39)	T22A	possibly damaging	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sf3b1	A	G	1: 55,040,580 (GRCm39)	Y561H	possibly damaging	Het
Smarcc1	T	A	9: 109,947,708 (GRCm39)		probably benign	Het
Stard3nl	C	T	13: 19,556,819 (GRCm39)	R107Q	probably damaging	Het
Syce1	C	T	7: 140,357,593 (GRCm39)	R324H	possibly damaging	Het
Tnk1	G	T	11: 69,743,119 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,150,968 (GRCm39)	F198L	probably damaging	Het
Trip4	A	T	9: 65,788,233 (GRCm39)	W71R	probably damaging	Het
Ubox5	A	C	2: 130,439,213 (GRCm39)		probably benign	Het
Ust	G	A	10: 8,183,202 (GRCm39)	T167M	probably damaging	Het
Zbtb2	T	C	10: 4,318,697 (GRCm39)	Q443R	probably benign	Het
Zfp407	A	G	18: 84,361,196 (GRCm39)		probably benign	Het

Other mutations in Or2ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03354:Or2ad1	APN	13	21,326,654 (GRCm39)	missense	probably damaging	1.00
IGL03385:Or2ad1	APN	13	21,326,657 (GRCm39)	missense	probably benign	0.01
R0137:Or2ad1	UTSW	13	21,326,336 (GRCm39)	missense	possibly damaging	0.86
R1168:Or2ad1	UTSW	13	21,326,787 (GRCm39)	missense	probably benign	0.04
R1212:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1214:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1237:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1238:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1239:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1280:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1309:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1443:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1444:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1602:Or2ad1	UTSW	13	21,326,820 (GRCm39)	missense	probably damaging	0.99
R1627:Or2ad1	UTSW	13	21,327,125 (GRCm39)	missense	probably damaging	0.99
R1649:Or2ad1	UTSW	13	21,326,912 (GRCm39)	missense	probably damaging	1.00
R1781:Or2ad1	UTSW	13	21,326,934 (GRCm39)	missense	probably benign	0.08
R1858:Or2ad1	UTSW	13	21,326,564 (GRCm39)	missense	probably damaging	1.00
R2520:Or2ad1	UTSW	13	21,326,746 (GRCm39)	nonsense	probably null
R4873:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R4875:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R5009:Or2ad1	UTSW	13	21,326,435 (GRCm39)	missense	probably benign	0.01
R6222:Or2ad1	UTSW	13	21,327,047 (GRCm39)	missense	probably damaging	1.00
R7031:Or2ad1	UTSW	13	21,327,170 (GRCm39)	missense	probably benign
R7126:Or2ad1	UTSW	13	21,326,888 (GRCm39)	missense	probably damaging	1.00
R7691:Or2ad1	UTSW	13	21,327,140 (GRCm39)	missense	probably benign
R7875:Or2ad1	UTSW	13	21,327,093 (GRCm39)	missense	probably damaging	1.00
R7966:Or2ad1	UTSW	13	21,326,356 (GRCm39)	nonsense	probably null
R8015:Or2ad1	UTSW	13	21,326,303 (GRCm39)	missense	probably benign
R8155:Or2ad1	UTSW	13	21,327,062 (GRCm39)	missense	probably damaging	1.00
R8247:Or2ad1	UTSW	13	21,326,295 (GRCm39)	missense	probably benign
R8787:Or2ad1	UTSW	13	21,326,453 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGACAGACAGCAGCATAGCGG -3'
(R):5'- GTTCAGCACATTGTAGAATCACTTGGC -3'

Sequencing Primer
(F):5'- AGATTTACCAGCATCTGTGGGAC -3'
(R):5'- CTATGGAGAAGCTCTGGTCAC -3'

Posted On

2014-03-14