Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Or1e22'

350698

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

040944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73376713-73377648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73376961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 230 (S230P)

Ref Sequence

ENSEMBL: ENSMUSP00000149355 (fasta)

Gene Model

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

AlphaFold

Q5SSP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078358
AA Change: S230P

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077467
Gene: ENSMUSG00000072708
AA Change: S230P

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

possibly damaging
Transcript: ENSMUST00000119863
AA Change: S230P

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113846
Gene: ENSMUSG00000072708
AA Change: S230P

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

possibly damaging
Transcript: ENSMUST00000214623
AA Change: S230P

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215358
AA Change: S230P

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.4475

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

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
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Eno3	T	A	11: 70,552,237 (GRCm39)	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Syn2	C	G	6: 115,214,259 (GRCm39)	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Tes	T	A	6: 17,099,700 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Twsg1	T	C	17: 66,236,758 (GRCm39)	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,116,678 (GRCm39)	C56F	probably benign	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
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
R5810:Or1e22	UTSW	11	73,376,921 (GRCm39)	nonsense	probably null
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'- TTCAGCATGGGAGTCACCAC -3'
(R):5'- ATGCTGTATTCCATGTTGCACAC -3'

Sequencing Primer
(F):5'- GAGTCACCACTGTGTACATCATGG -3'
(R):5'- CATTCTGTGAGGACAATGTGATCCC -3'

Posted On

2015-10-08