Mutagenetix > Incidental Mutation

Incidental Mutation 'R9429:Or5e1'

712809

Institutional Source

Beutler Lab

Gene Symbol

Or5e1

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor family 5 subfamily E member 1

Synonyms

GA_x6K02T2PBJ9-11084889-11085818, Olfr513, MOR195-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R9429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108354065-108354994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108354412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 116 (M116I)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055146] [ENSMUST00000214670]

AlphaFold

Q8VFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000055146
AA Change: M116I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: M116I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	2.7e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	304	2.3e-6	PFAM
Pfam:7tm_1	39	289	2.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214670
AA Change: M116I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	T	8: 33,919,165 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam7	G	C	14: 68,771,080 (GRCm39)	H15Q	probably null	Het
Adgrv1	A	T	13: 81,567,468 (GRCm39)	I5235N	probably damaging	Het
Adgrv1	A	C	13: 81,741,165 (GRCm39)	C100G	probably damaging	Het
Aebp1	A	G	11: 5,821,649 (GRCm39)	T1063A	probably benign	Het
Atmin	A	G	8: 117,670,307 (GRCm39)	R48G	probably benign	Het
Atxn10	A	G	15: 85,346,565 (GRCm39)	E441G	probably benign	Het
Catsper1	T	C	19: 5,389,755 (GRCm39)	V505A	possibly damaging	Het
Chd5	T	C	4: 152,447,364 (GRCm39)	V471A	probably damaging	Het
Cma2	A	G	14: 56,210,276 (GRCm39)	I110V	possibly damaging	Het
Cnst	A	C	1: 179,432,566 (GRCm39)	N243T	probably damaging	Het
Col15a1	A	T	4: 47,310,439 (GRCm39)	N1203I	probably damaging	Het
Col6a3	T	A	1: 90,731,585 (GRCm39)	H1556L	probably benign	Het
Crybg3	T	A	16: 59,375,556 (GRCm39)	K185N	probably benign	Het
Dnah1	G	A	14: 30,997,499 (GRCm39)	Q2620*	probably null	Het
Dusp10	A	C	1: 183,801,091 (GRCm39)	D286A	probably benign	Het
Erich6	A	G	3: 58,536,935 (GRCm39)	V252A	possibly damaging	Het
Fhod1	A	G	8: 106,057,139 (GRCm39)	L945P	probably damaging	Het
Foxh1	C	T	15: 76,553,442 (GRCm39)	R120Q	probably null	Het
Frmd4b	T	C	6: 97,279,252 (GRCm39)	D591G	probably damaging	Het
Gbe1	G	A	16: 70,292,203 (GRCm39)	V512I	probably benign	Het
Ghitm	A	G	14: 36,852,655 (GRCm39)	S142P	probably damaging	Het
Gldc	C	T	19: 30,091,172 (GRCm39)	A808T	possibly damaging	Het
Gm14496	C	T	2: 181,637,934 (GRCm39)	T336I	possibly damaging	Het
Ido2	T	C	8: 25,037,194 (GRCm39)	T171A	probably damaging	Het
Kctd19	A	T	8: 106,109,652 (GRCm39)	I930N	probably damaging	Het
Kctd2	T	C	11: 115,318,277 (GRCm39)	Y187H	probably damaging	Het
L3hypdh	T	C	12: 72,124,203 (GRCm39)	T246A	probably damaging	Het
Lama1	A	G	17: 68,118,449 (GRCm39)	M2554V		Het
Laptm5	A	G	4: 130,655,961 (GRCm39)	Y93C		Het
Mroh2b	T	A	15: 4,963,907 (GRCm39)	L833Q	probably damaging	Het
Ms4a12	T	C	19: 11,193,424 (GRCm39)	D187G	probably damaging	Het
Muc4	C	T	16: 32,576,098 (GRCm39)	T1866I	unknown	Het
Myo1a	G	T	10: 127,543,247 (GRCm39)	D168Y	probably damaging	Het
Nek1	C	T	8: 61,559,892 (GRCm39)	S1005L	probably benign	Het
Nrg1	T	A	8: 32,308,592 (GRCm39)	M523L	probably benign	Het
Nt5c2	T	A	19: 46,877,459 (GRCm39)	H494L	probably benign	Het
Oasl2	G	A	5: 115,043,040 (GRCm39)	V271I	probably benign	Het
Or13a1	T	G	6: 116,471,292 (GRCm39)	S241A	probably damaging	Het
Or52s1	C	T	7: 102,861,871 (GRCm39)	A268V	possibly damaging	Het
Per2	T	C	1: 91,351,489 (GRCm39)	T1006A	probably benign	Het
Phyhd1	C	A	2: 30,156,917 (GRCm39)	F19L	probably benign	Het
Pter	T	A	2: 12,985,112 (GRCm39)	D147E	probably benign	Het
Rps6ka1	A	C	4: 133,598,900 (GRCm39)	L90V	probably damaging	Het
Rrp15	A	T	1: 186,481,368 (GRCm39)	D46E	probably benign	Het
Ryr2	A	G	13: 11,809,459 (GRCm39)	F789L	probably damaging	Het
Sepsecs	T	C	5: 52,801,294 (GRCm39)	K456R	probably benign	Het
Septin11	G	A	5: 93,321,397 (GRCm39)		probably null	Het
Sowahb	T	C	5: 93,191,080 (GRCm39)	I546M	possibly damaging	Het
Spata31	C	A	13: 65,070,336 (GRCm39)	T828K	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,034 (GRCm39)	T147A	probably benign	Het
Tcf3	G	A	10: 80,252,436 (GRCm39)	P350S	probably benign	Het
Tek	A	G	4: 94,715,515 (GRCm39)	D402G	probably benign	Het
Themis3	T	C	17: 66,866,665 (GRCm39)	R192G	probably damaging	Het
Tmc1	T	A	19: 20,793,548 (GRCm39)	I538F	possibly damaging	Het
Trpc3	T	G	3: 36,705,777 (GRCm39)	I473L	probably benign	Het
Ttll2	A	T	17: 7,620,085 (GRCm39)	L4Q	probably damaging	Het
Urb2	T	A	8: 124,750,226 (GRCm39)	Y5*	probably null	Het
Vav3	T	A	3: 109,564,561 (GRCm39)	Y673*	probably null	Het
Vmn1r32	T	A	6: 66,530,237 (GRCm39)	T180S	probably benign	Het
Vmn1r90	A	T	7: 14,295,647 (GRCm39)	N150K	probably damaging	Het
Zbed6	A	C	1: 133,585,453 (GRCm39)	I628R	probably damaging	Het
Zfp1007	A	T	5: 109,824,334 (GRCm39)	L372*	probably null	Het
Zfp750	G	A	11: 121,404,693 (GRCm39)	R61C	probably damaging	Het
Zfp87	A	G	13: 74,520,703 (GRCm39)	I125T	probably damaging	Het
Zfta	T	C	19: 7,399,594 (GRCm39)	L447P	probably damaging	Het

Other mutations in Or5e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Or5e1	APN	7	108,354,321 (GRCm39)	missense	probably damaging	1.00
IGL03086:Or5e1	APN	7	108,355,003 (GRCm39)	utr 3 prime	probably benign
FR4340:Or5e1	UTSW	7	108,354,161 (GRCm39)	small insertion	probably benign
IGL02799:Or5e1	UTSW	7	108,354,830 (GRCm39)	missense	probably benign
R0218:Or5e1	UTSW	7	108,354,781 (GRCm39)	nonsense	probably null
R1103:Or5e1	UTSW	7	108,354,090 (GRCm39)	missense	possibly damaging	0.92
R1251:Or5e1	UTSW	7	108,354,114 (GRCm39)	missense	probably damaging	0.99
R1450:Or5e1	UTSW	7	108,354,719 (GRCm39)	missense	probably damaging	1.00
R1582:Or5e1	UTSW	7	108,354,317 (GRCm39)	missense	probably benign	0.04
R1608:Or5e1	UTSW	7	108,354,309 (GRCm39)	missense	probably damaging	0.99
R1726:Or5e1	UTSW	7	108,354,215 (GRCm39)	missense	probably benign	0.00
R1880:Or5e1	UTSW	7	108,354,335 (GRCm39)	missense	probably damaging	1.00
R1881:Or5e1	UTSW	7	108,354,335 (GRCm39)	missense	probably damaging	1.00
R2136:Or5e1	UTSW	7	108,354,430 (GRCm39)	missense	possibly damaging	0.58
R2216:Or5e1	UTSW	7	108,354,819 (GRCm39)	missense	probably damaging	1.00
R4006:Or5e1	UTSW	7	108,354,468 (GRCm39)	missense	probably damaging	1.00
R4603:Or5e1	UTSW	7	108,354,834 (GRCm39)	missense	probably damaging	1.00
R4881:Or5e1	UTSW	7	108,354,612 (GRCm39)	missense	probably damaging	1.00
R5132:Or5e1	UTSW	7	108,354,477 (GRCm39)	missense	probably damaging	1.00
R5426:Or5e1	UTSW	7	108,354,924 (GRCm39)	missense	possibly damaging	0.94
R5679:Or5e1	UTSW	7	108,354,203 (GRCm39)	missense	probably damaging	0.97
R5848:Or5e1	UTSW	7	108,354,781 (GRCm39)	nonsense	probably null
R5911:Or5e1	UTSW	7	108,354,882 (GRCm39)	missense	probably benign	0.36
R6474:Or5e1	UTSW	7	108,354,236 (GRCm39)	missense	probably damaging	1.00
R7016:Or5e1	UTSW	7	108,354,918 (GRCm39)	missense	probably damaging	1.00
R7783:Or5e1	UTSW	7	108,354,776 (GRCm39)	missense	probably damaging	1.00
R8113:Or5e1	UTSW	7	108,354,438 (GRCm39)	missense	probably damaging	1.00
R8385:Or5e1	UTSW	7	108,354,511 (GRCm39)	nonsense	probably null
R9746:Or5e1	UTSW	7	108,354,639 (GRCm39)	missense	probably benign
Z1088:Or5e1	UTSW	7	108,354,311 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AACCTTGGCATGATCTTGCTC -3'
(R):5'- AGTGGTGGATCACATTGGAG -3'

Sequencing Primer
(F):5'- TTGCTCATCAAGGCAGATTCCAG -3'
(R):5'- TCACATTGGAGTTGCAGAAAGAC -3'

Posted On

2022-05-16