Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Or1e22'

447478

Institutional Source

Beutler Lab

Gene Symbol

Or1e22

Ensembl Gene

ENSMUSG00000072708

Gene Name

olfactory receptor family 1 subfamily E member 22

Synonyms

Olfr381, GA_x6K02T2P1NL-3646409-3645474, MOR135-4

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73376713-73377648 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 73376921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 243 (S243*)

Ref Sequence

ENSEMBL: ENSMUSP00000149355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078358] [ENSMUST00000119863] [ENSMUST00000214623] [ENSMUST00000215358]

AlphaFold

Q5SSP0

Predicted Effect

probably null
Transcript: ENSMUST00000078358
AA Change: S243*

SMART Domains

Protein: ENSMUSP00000077467
Gene: ENSMUSG00000072708
AA Change: S243*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	1.3e-35	PFAM
Pfam:7tm_4	139	283	5.3e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119863
AA Change: S243*

SMART Domains

Protein: ENSMUSP00000113846
Gene: ENSMUSG00000072708
AA Change: S243*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-57	PFAM
Pfam:7tm_1	41	290	2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206673

Predicted Effect

probably null
Transcript: ENSMUST00000214623
AA Change: S243*

Predicted Effect

probably null
Transcript: ENSMUST00000215358
AA Change: S243*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Or1e22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Or1e22	APN	11	73,377,398 (GRCm39)	missense	probably benign	0.22
IGL02867:Or1e22	APN	11	73,376,817 (GRCm39)	missense	probably damaging	1.00
IGL03202:Or1e22	APN	11	73,377,351 (GRCm39)	nonsense	probably null
R0207:Or1e22	UTSW	11	73,377,401 (GRCm39)	missense	probably benign	0.00
R0539:Or1e22	UTSW	11	73,376,889 (GRCm39)	missense	probably benign	0.22
R1469:Or1e22	UTSW	11	73,377,149 (GRCm39)	missense	possibly damaging	0.81
R1469:Or1e22	UTSW	11	73,377,149 (GRCm39)	missense	possibly damaging	0.81
R1835:Or1e22	UTSW	11	73,377,200 (GRCm39)	missense	probably benign	0.08
R2095:Or1e22	UTSW	11	73,377,420 (GRCm39)	missense	probably damaging	1.00
R3612:Or1e22	UTSW	11	73,376,766 (GRCm39)	missense	probably benign	0.23
R3983:Or1e22	UTSW	11	73,376,961 (GRCm39)	missense	possibly damaging	0.84
R4959:Or1e22	UTSW	11	73,376,893 (GRCm39)	nonsense	probably null
R4983:Or1e22	UTSW	11	73,377,623 (GRCm39)	missense	probably benign	0.04
R5297:Or1e22	UTSW	11	73,377,215 (GRCm39)	missense	probably damaging	0.99
R5447:Or1e22	UTSW	11	73,377,002 (GRCm39)	missense	probably benign	0.01
R5569:Or1e22	UTSW	11	73,377,518 (GRCm39)	missense	probably damaging	0.97
R5580:Or1e22	UTSW	11	73,377,036 (GRCm39)	missense	probably benign
R5711:Or1e22	UTSW	11	73,377,008 (GRCm39)	missense	probably damaging	1.00
R6974:Or1e22	UTSW	11	73,377,299 (GRCm39)	missense	probably benign	0.00
R7383:Or1e22	UTSW	11	73,376,715 (GRCm39)	makesense	probably null
R7661:Or1e22	UTSW	11	73,377,426 (GRCm39)	missense	probably damaging	1.00
R7748:Or1e22	UTSW	11	73,376,994 (GRCm39)	missense	probably benign	0.03
R7913:Or1e22	UTSW	11	73,377,224 (GRCm39)	missense	probably benign	0.01
R9400:Or1e22	UTSW	11	73,376,807 (GRCm39)	missense	probably damaging	1.00
R9666:Or1e22	UTSW	11	73,376,885 (GRCm39)	missense	probably damaging	0.98
Z1177:Or1e22	UTSW	11	73,376,979 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ACAAGGGCCTCTTTTATATCTCTG -3'
(R):5'- GTGAGGACAATGTGATCCCTC -3'

Sequencing Primer
(F):5'- CTGTTCCTCAGGCTGTAGATGAAAG -3'
(R):5'- GACATATCTGCACTGCTCAAGTTGG -3'

Posted On

2016-12-15