Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Or1e17'

433481

Institutional Source

Beutler Lab

Gene Symbol

Or1e17

Ensembl Gene

ENSMUSG00000069816

Gene Name

olfactory receptor family 1 subfamily E member 17

Synonyms

GA_x6K02T2P1NL-4097159-4098136, MTPCR50, MOR135-27, Olfr23

MMRRC Submission

043031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R5470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73827503-73833484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73831696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 208 (I208T)

Ref Sequence

ENSEMBL: ENSMUSP00000150593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092917] [ENSMUST00000121280] [ENSMUST00000214210]

AlphaFold

Q7TRX4

Predicted Effect

probably benign
Transcript: ENSMUST00000092917
AA Change: I208T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: I208T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.8e-60	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.8e-6	PFAM
Pfam:7tm_1	41	290	9.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121280
AA Change: I208T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: I208T

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	1.3e-6	PFAM
Pfam:7tm_1	41	290	4.3e-35	PFAM
Pfam:7tm_4	139	283	1.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214210
AA Change: I208T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,715 (GRCm39)	I813F	probably damaging	Het
Aqr	G	A	2: 113,988,056 (GRCm39)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,892,058 (GRCm39)	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,839,833 (GRCm39)	A44S	probably benign	Het
Brip1	T	C	11: 86,039,368 (GRCm39)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,673,045 (GRCm39)		probably benign	Het
Ccdc7b	T	A	8: 129,799,081 (GRCm39)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,450,066 (GRCm39)	F154L	probably damaging	Het
Cop1	A	T	1: 159,094,430 (GRCm39)		probably benign	Het
Cyp2c39	A	G	19: 39,501,974 (GRCm39)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,309,429 (GRCm39)	M256V	probably benign	Het
Deup1	T	C	9: 15,493,916 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,830,232 (GRCm39)	N709D	probably benign	Het
Dthd1	A	G	5: 62,976,109 (GRCm39)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
En2	C	T	5: 28,371,922 (GRCm39)	T133M	probably benign	Het
Endou	A	G	15: 97,616,836 (GRCm39)	F229S	probably damaging	Het
Etl4	A	T	2: 20,534,791 (GRCm39)	H79L	probably damaging	Het
Fah	C	T	7: 84,242,393 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,752,640 (GRCm39)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,812,008 (GRCm39)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,327,581 (GRCm39)	V179E	probably benign	Het
Gm14129	G	T	2: 148,769,737 (GRCm39)		noncoding transcript	Het
Gorab	A	G	1: 163,220,078 (GRCm39)	I188T	probably damaging	Het
Gpr152	G	A	19: 4,193,128 (GRCm39)	C223Y	probably damaging	Het
Heatr5b	A	T	17: 79,129,008 (GRCm39)		probably null	Het
Hsd17b3	G	T	13: 64,221,713 (GRCm39)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,793,302 (GRCm39)	V283M	probably benign	Het
Klk1b16	A	T	7: 43,786,755 (GRCm39)	I5F	probably damaging	Het
Krt74	G	A	15: 101,662,900 (GRCm39)		noncoding transcript	Het
Lrch3	T	A	16: 32,818,960 (GRCm39)	N650K	probably damaging	Het
Ly96	A	T	1: 16,779,710 (GRCm39)	E126D	probably benign	Het
Mgarp	C	A	3: 51,298,706 (GRCm39)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,242,147 (GRCm39)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,443,643 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,139,450 (GRCm39)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,838,350 (GRCm39)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,617,248 (GRCm39)		probably null	Het
Nsl1	T	C	1: 190,812,737 (GRCm39)	M184T	probably benign	Het
Nup133	T	C	8: 124,657,705 (GRCm39)	N410S	probably benign	Het
Opalin	A	G	19: 41,054,970 (GRCm39)	S75P	probably benign	Het
Or3a4	A	G	11: 73,944,733 (GRCm39)	I284T	possibly damaging	Het
Or51ag1	T	G	7: 103,155,716 (GRCm39)	I146L	probably benign	Het
Palb2	C	A	7: 121,713,574 (GRCm39)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,740,720 (GRCm39)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 108,856,661 (GRCm39)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,603,306 (GRCm39)	C119R	probably benign	Het
Plekha1	T	C	7: 130,510,106 (GRCm39)	V45A	probably damaging	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Rcan2	A	G	17: 44,147,174 (GRCm39)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,012,634 (GRCm39)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,138,880 (GRCm39)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,585,234 (GRCm39)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,115,907 (GRCm39)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,188,527 (GRCm39)	H860Q	probably benign	Het
Strn	A	T	17: 78,964,374 (GRCm39)	H530Q	probably benign	Het
Tex14	A	G	11: 87,442,430 (GRCm39)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,115,381 (GRCm39)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,800,912 (GRCm39)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,935,947 (GRCm39)	D2666G	probably null	Het
Ttn	A	T	2: 76,560,208 (GRCm39)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,653,758 (GRCm39)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,910,698 (GRCm39)	I91V	probably benign	Het
Wdr72	A	T	9: 74,046,981 (GRCm39)	K76*	probably null	Het
Zfp689	C	T	7: 127,043,425 (GRCm39)	A402T	probably damaging	Het
Zfpm1	A	G	8: 123,060,532 (GRCm39)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,686,470 (GRCm39)	R613L	possibly damaging	Het

Other mutations in Or1e17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Or1e17	APN	11	73,832,020 (GRCm39)	missense	probably benign
IGL02290:Or1e17	APN	11	73,831,695 (GRCm39)	missense	probably benign	0.00
IGL02301:Or1e17	APN	11	73,831,894 (GRCm39)	missense	possibly damaging	0.79
IGL02303:Or1e17	APN	11	73,831,276 (GRCm39)	missense	possibly damaging	0.87
IGL02510:Or1e17	APN	11	73,831,831 (GRCm39)	missense	probably damaging	1.00
IGL02558:Or1e17	APN	11	73,831,651 (GRCm39)	missense	probably benign	0.01
IGL02712:Or1e17	APN	11	73,831,756 (GRCm39)	missense	probably benign	0.12
IGL02795:Or1e17	APN	11	73,831,755 (GRCm39)	missense	probably benign	0.05
IGL02800:Or1e17	APN	11	73,831,942 (GRCm39)	missense	probably damaging	1.00
IGL03350:Or1e17	APN	11	73,831,664 (GRCm39)	missense	probably damaging	0.99
R0277:Or1e17	UTSW	11	73,831,773 (GRCm39)	missense	probably benign	0.28
R0323:Or1e17	UTSW	11	73,831,773 (GRCm39)	missense	probably benign	0.28
R0333:Or1e17	UTSW	11	73,831,593 (GRCm39)	missense	possibly damaging	0.78
R0389:Or1e17	UTSW	11	73,831,879 (GRCm39)	missense	probably benign	0.12
R0391:Or1e17	UTSW	11	73,831,935 (GRCm39)	missense	probably damaging	1.00
R0723:Or1e17	UTSW	11	73,831,096 (GRCm39)	missense	probably benign	0.00
R1469:Or1e17	UTSW	11	73,831,383 (GRCm39)	missense	probably benign	0.05
R1469:Or1e17	UTSW	11	73,831,383 (GRCm39)	missense	probably benign	0.05
R1900:Or1e17	UTSW	11	73,831,486 (GRCm39)	missense	possibly damaging	0.79
R2363:Or1e17	UTSW	11	73,831,182 (GRCm39)	missense	possibly damaging	0.96
R4236:Or1e17	UTSW	11	73,831,182 (GRCm39)	missense	possibly damaging	0.96
R4630:Or1e17	UTSW	11	73,831,822 (GRCm39)	missense	probably damaging	1.00
R4717:Or1e17	UTSW	11	73,831,641 (GRCm39)	missense	possibly damaging	0.86
R4801:Or1e17	UTSW	11	73,831,696 (GRCm39)	missense	possibly damaging	0.88
R4802:Or1e17	UTSW	11	73,831,696 (GRCm39)	missense	possibly damaging	0.88
R4964:Or1e17	UTSW	11	73,832,028 (GRCm39)	missense	probably benign	0.04
R5119:Or1e17	UTSW	11	73,831,378 (GRCm39)	missense	possibly damaging	0.76
R6196:Or1e17	UTSW	11	73,831,635 (GRCm39)	missense	possibly damaging	0.86
R6551:Or1e17	UTSW	11	73,831,129 (GRCm39)	missense	probably benign	0.11
R7695:Or1e17	UTSW	11	73,831,720 (GRCm39)	missense	possibly damaging	0.94
R7979:Or1e17	UTSW	11	73,831,401 (GRCm39)	missense	probably benign	0.00
R8074:Or1e17	UTSW	11	73,831,213 (GRCm39)	missense	possibly damaging	0.78
R8834:Or1e17	UTSW	11	73,831,164 (GRCm39)	missense	possibly damaging	0.59
R9344:Or1e17	UTSW	11	73,831,744 (GRCm39)	missense	possibly damaging	0.94
R9352:Or1e17	UTSW	11	73,831,470 (GRCm39)	missense	probably benign	0.12
R9800:Or1e17	UTSW	11	73,831,986 (GRCm39)	missense	probably benign	0.01
X0065:Or1e17	UTSW	11	73,831,150 (GRCm39)	missense	possibly damaging	0.59
Z1088:Or1e17	UTSW	11	73,831,964 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGACAACATTGTGTGCCATG -3'
(R):5'- GGGAGTCACCACAGTGTACATC -3'

Sequencing Primer
(F):5'- TGCCATGTTGCACACTTTG -3'
(R):5'- GACATGACAGTATCCTTCACAGTAG -3'

Posted On

2016-10-06