Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Or1e17'

164775

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

039522-MU

Accession Numbers

Essential gene?

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

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73827503-73833484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73831383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 104 (F104L)

Ref Sequence

ENSEMBL: ENSMUSP00000150593 (fasta)

Gene Model

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

AlphaFold

Q7TRX4

Predicted Effect

probably benign
Transcript: ENSMUST00000092917
AA Change: F104L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: F104L

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: ENSMUST00000214210
AA Change: F104L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1917

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Asap2	A	G	12: 21,263,180 (GRCm39)	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,634,677 (GRCm39)	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,312,351 (GRCm39)	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Primpol	A	G	8: 47,046,672 (GRCm39)	V208A	probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably 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
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
R5470:Or1e17	UTSW	11	73,831,696 (GRCm39)	missense	probably benign	0.06
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'- GGGAACCTCGTCATCATTGTCCTC -3'
(R):5'- GAATATCAGAGCAGGCCAGCTTCAG -3'

Sequencing Primer
(F):5'- GTCATCATTGTCCTCATTCATCTGG -3'
(R):5'- CCTAGTTAAGAGCAAAGTGTGCAAC -3'

Posted On

2014-03-28