Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Or1e35'

526291

Institutional Source

Beutler Lab

Gene Symbol

Or1e35

Ensembl Gene

ENSMUSG00000062186

Gene Name

olfactory receptor family 1 subfamily E member 35

Synonyms

MOR135-10, GA_x6K02T2P1NL-4062605-4061667, Olfr395

MMRRC Submission

044696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73797378-73798316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73797629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 230 (S230P)

Ref Sequence

ENSEMBL: ENSMUSP00000149064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072991] [ENSMUST00000215690]

AlphaFold

Q8VGR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072991
AA Change: S230P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072756
Gene: ENSMUSG00000062186
AA Change: S230P

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
Pfam:7tm_4	31	309	6.2e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.8e-8	PFAM
Pfam:7tm_1	41	290	3.7e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215690
AA Change: S230P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.3241

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,961 (GRCm39)	Q34*	probably null	Het
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,722,412 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Chst13	G	T	6: 90,286,588 (GRCm39)	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pigs	A	G	11: 78,230,190 (GRCm39)	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Ppard	G	T	17: 28,516,093 (GRCm39)	E106*	probably null	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	possibly damaging	Het

Other mutations in Or1e35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or1e35	APN	11	73,798,139 (GRCm39)	missense	probably damaging	1.00
IGL01618:Or1e35	APN	11	73,798,303 (GRCm39)	missense	probably damaging	1.00
IGL01995:Or1e35	APN	11	73,798,261 (GRCm39)	missense	possibly damaging	0.52
IGL02494:Or1e35	APN	11	73,797,550 (GRCm39)	missense	possibly damaging	0.55
IGL02995:Or1e35	APN	11	73,798,045 (GRCm39)	missense	possibly damaging	0.90
IGL03256:Or1e35	APN	11	73,797,522 (GRCm39)	missense	probably benign	0.07
R0018:Or1e35	UTSW	11	73,797,452 (GRCm39)	missense	probably damaging	1.00
R0701:Or1e35	UTSW	11	73,797,655 (GRCm39)	missense	probably damaging	1.00
R0839:Or1e35	UTSW	11	73,798,138 (GRCm39)	missense	probably damaging	0.99
R1222:Or1e35	UTSW	11	73,798,240 (GRCm39)	missense	probably damaging	1.00
R1737:Or1e35	UTSW	11	73,797,911 (GRCm39)	missense	possibly damaging	0.69
R1819:Or1e35	UTSW	11	73,797,505 (GRCm39)	missense	probably benign	0.02
R2994:Or1e35	UTSW	11	73,797,541 (GRCm39)	missense	probably damaging	1.00
R3195:Or1e35	UTSW	11	73,797,484 (GRCm39)	missense	possibly damaging	0.91
R4622:Or1e35	UTSW	11	73,797,737 (GRCm39)	missense	possibly damaging	0.55
R4753:Or1e35	UTSW	11	73,797,677 (GRCm39)	missense	probably damaging	1.00
R5137:Or1e35	UTSW	11	73,797,452 (GRCm39)	missense	probably damaging	1.00
R5448:Or1e35	UTSW	11	73,797,437 (GRCm39)	missense	probably damaging	1.00
R5604:Or1e35	UTSW	11	73,797,853 (GRCm39)	missense	probably benign	0.02
R5748:Or1e35	UTSW	11	73,797,721 (GRCm39)	missense	probably damaging	0.98
R5899:Or1e35	UTSW	11	73,797,755 (GRCm39)	missense	probably damaging	1.00
R6156:Or1e35	UTSW	11	73,797,447 (GRCm39)	nonsense	probably null
R6388:Or1e35	UTSW	11	73,798,118 (GRCm39)	missense	probably damaging	1.00
R7241:Or1e35	UTSW	11	73,798,058 (GRCm39)	missense	probably benign	0.05
R8870:Or1e35	UTSW	11	73,797,725 (GRCm39)	missense	probably benign	0.03
R9358:Or1e35	UTSW	11	73,797,451 (GRCm39)	missense	probably damaging	1.00
R9544:Or1e35	UTSW	11	73,797,637 (GRCm39)	missense	probably benign	0.14
R9645:Or1e35	UTSW	11	73,797,713 (GRCm39)	missense	probably benign
R9667:Or1e35	UTSW	11	73,798,097 (GRCm39)	missense	possibly damaging	0.83
R9707:Or1e35	UTSW	11	73,798,090 (GRCm39)	missense	possibly damaging	0.79
Z1177:Or1e35	UTSW	11	73,797,439 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTATAGATGAAGGGGTTCAGCATG -3'
(R):5'- CTGCATACCCTACTCATGGC -3'

Sequencing Primer
(F):5'- ATGGGAGTCACCACTGTGTACATC -3'
(R):5'- GCATACCCTACTCATGGCTAGATTG -3'

Posted On

2018-06-22