Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Or1e22'

232062

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

040099-MU

Accession Numbers

Essential gene?

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

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73376713-73377648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73377420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 77 (T77S)

Ref Sequence

ENSEMBL: ENSMUSP00000149355 (fasta)

Gene Model

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

AlphaFold

Q5SSP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000078358
AA Change: T77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077467
Gene: ENSMUSG00000072708
AA Change: T77S

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 damaging
Transcript: ENSMUST00000119863
AA Change: T77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113846
Gene: ENSMUSG00000072708
AA Change: T77S

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 damaging
Transcript: ENSMUST00000214623
AA Change: T77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215358
AA Change: T77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2263

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	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
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
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'- TGCAACATGGAATACAGCATAC -3'
(R):5'- CAGAGTACCAGCACCTGTTC -3'

Sequencing Primer
(F):5'- CAAACACAGAGCTTGGGGC -3'
(R):5'- AGAGTACCAGCACCTGTTCTATGC -3'

Posted On

2014-09-18