Mutagenetix > Incidental Mutation

Incidental Mutation 'R5447:Or1e22'

429144

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

043012-MU

Accession Numbers

Essential gene?

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

Stock #

R5447 (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 73377002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 216 (V216A)

Ref Sequence

ENSEMBL: ENSMUSP00000149355 (fasta)

Gene Model

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

AlphaFold

Q5SSP0

Predicted Effect

probably benign
Transcript: ENSMUST00000078358
AA Change: V216A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077467
Gene: ENSMUSG00000072708
AA Change: V216A

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 benign
Transcript: ENSMUST00000119863
AA Change: V216A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113846
Gene: ENSMUSG00000072708
AA Change: V216A

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 benign
Transcript: ENSMUST00000214623
AA Change: V216A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000215358
AA Change: V216A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (71/73)

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
Abcb5	T	C	12: 118,891,061 (GRCm39)	I479V	probably damaging	Het
Adam30	A	G	3: 98,068,659 (GRCm39)	D164G	probably benign	Het
Adgrl3	T	A	5: 81,613,188 (GRCm39)		probably benign	Het
Adrb1	T	C	19: 56,711,519 (GRCm39)	I239T	probably benign	Het
Albfm1	C	A	5: 90,732,169 (GRCm39)	A458E	probably damaging	Het
B4galnt3	T	C	6: 120,192,018 (GRCm39)	T572A	probably benign	Het
Baz2b	T	C	2: 59,744,332 (GRCm39)	E1391G	probably damaging	Het
BC016579	A	G	16: 45,469,252 (GRCm39)	V72A	probably benign	Het
Btnl10	A	T	11: 58,813,144 (GRCm39)	I258F	probably benign	Het
Cdh5	A	T	8: 104,855,994 (GRCm39)	D309V	probably damaging	Het
Cdhr2	A	G	13: 54,881,063 (GRCm39)	D1042G	probably damaging	Het
Clk2	G	T	3: 89,074,498 (GRCm39)	V53F	possibly damaging	Het
Cyfip2	T	C	11: 46,182,413 (GRCm39)	D15G	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dmbt1	A	G	7: 130,721,240 (GRCm39)	Y1836C	probably damaging	Het
Dysf	T	C	6: 84,172,245 (GRCm39)	F1905L	probably damaging	Het
E130114P18Rik	A	G	4: 97,578,955 (GRCm39)	S7P	unknown	Het
Fam110a	T	C	2: 151,812,629 (GRCm39)	E47G	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Helb	T	A	10: 119,938,806 (GRCm39)	D556V	possibly damaging	Het
Hoxd4	A	G	2: 74,557,687 (GRCm39)	E22G	probably damaging	Het
Hsd17b8	A	T	17: 34,245,886 (GRCm39)	V202D	probably damaging	Het
Il1rl2	T	G	1: 40,368,316 (GRCm39)	I162R	probably damaging	Het
Lhfpl5	A	G	17: 28,795,071 (GRCm39)	T33A	probably damaging	Het
Mapk8ip3	G	A	17: 25,118,163 (GRCm39)	A1283V	probably benign	Het
Mettl13	A	G	1: 162,363,449 (GRCm39)	V227A	probably benign	Het
Mmgt2	T	A	11: 62,555,824 (GRCm39)	C57*	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mylk2	T	C	2: 152,754,430 (GRCm39)	S175P	probably damaging	Het
Neu4	C	T	1: 93,950,140 (GRCm39)	T33M	probably damaging	Het
Nfs1	C	T	2: 155,984,056 (GRCm39)	R107H	probably benign	Het
Nfxl1	C	T	5: 72,686,512 (GRCm39)	R563Q	probably benign	Het
Nid1	A	G	13: 13,612,495 (GRCm39)	D70G	probably benign	Het
Nup160	C	A	2: 90,555,959 (GRCm39)	Q1220K	possibly damaging	Het
Or1ad8	G	A	11: 50,898,170 (GRCm39)	V124M	possibly damaging	Het
Or52s6	A	C	7: 103,092,147 (GRCm39)	M61R	probably damaging	Het
Or5k8	A	T	16: 58,644,846 (GRCm39)	C75*	probably null	Het
Pdgfrb	T	A	18: 61,201,180 (GRCm39)	V422E	probably damaging	Het
Pear1	G	A	3: 87,666,449 (GRCm39)	R85C	probably damaging	Het
Pkhd1	T	A	1: 20,309,609 (GRCm39)	M2780L	probably benign	Het
Ppp4r4	T	C	12: 103,550,410 (GRCm39)	V62A	possibly damaging	Het
Prol1	C	T	5: 88,476,125 (GRCm39)	P172S	unknown	Het
Proz	A	G	8: 13,122,578 (GRCm39)	I231V	probably benign	Het
Ptch1	T	G	13: 63,675,059 (GRCm39)	M718L	probably benign	Het
Ptprs	A	G	17: 56,736,128 (GRCm39)	C102R	possibly damaging	Het
Robo2	A	T	16: 73,770,654 (GRCm39)	Y490*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Skint6	T	A	4: 112,963,106 (GRCm39)	S442C	probably benign	Het
Snw1	T	C	12: 87,502,485 (GRCm39)	E303G	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Stk10	C	T	11: 32,554,166 (GRCm39)	Q618*	probably null	Het
Tmc3	A	T	7: 83,271,569 (GRCm39)	E907V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	A	2: 76,729,451 (GRCm39)		probably benign	Het
Vps39	T	C	2: 120,183,413 (GRCm39)	D19G	probably benign	Het
Zan	T	C	5: 137,470,453 (GRCm39)	S229G	probably damaging	Het
Zfp141	A	T	7: 42,124,983 (GRCm39)	C496*	probably null	Het
Zgrf1	T	C	3: 127,356,768 (GRCm39)	S665P	possibly 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
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'- TATGCTGTATTCCATGTTGCACAC -3'

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

Posted On

2016-09-06