Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Or1e17'

620430

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

067508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73827503-73833484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73831213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 47 (V47D)

Ref Sequence

ENSEMBL: ENSMUSP00000150593 (fasta)

Gene Model

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

AlphaFold

Q7TRX4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092917
AA Change: V47D

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: V47D

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

possibly damaging
Transcript: ENSMUST00000214210
AA Change: V47D

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.5205

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	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
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
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'- GTAAAGCCCTTGTCTTACGTATATG -3'
(R):5'- CATAACGGTCATAGGCCATGG -3'

Sequencing Primer
(F):5'- GGAAGATAGATCATGCCTGG -3'
(R):5'- GGCAACAAGGAGTAAACTCTCAAC -3'

Posted On

2020-01-23