Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:Or5h26'

38414

Institutional Source

Beutler Lab

Gene Symbol

Or5h26

Ensembl Gene

ENSMUSG00000096695

Gene Name

olfactory receptor family 5 subfamily H member 26

Synonyms

MOR183-1, Olfr196, GA_x54KRFPKG5P-55389051-55388122

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58987010-58990817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58988269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 79 (P79L)

Ref Sequence

ENSEMBL: ENSMUSP00000145684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077027] [ENSMUST00000205471] [ENSMUST00000207673]

AlphaFold

E9PYP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077027
AA Change: P79L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076285
Gene: ENSMUSG00000096695
AA Change: P79L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.1e-48	PFAM
Pfam:7tm_1	41	290	1.1e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205471
AA Change: P79L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207673
AA Change: P79L

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	C	14: 59,377,079 (GRCm39)	N105D	possibly damaging	Het
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Nol4l	T	A	2: 153,253,672 (GRCm39)	S390C	probably benign	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,728,170 (GRCm39)	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
St7l	T	C	3: 104,803,125 (GRCm39)		probably benign	Het
Stap2	A	G	17: 56,307,097 (GRCm39)	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	probably damaging	Het

Other mutations in Or5h26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02560:Or5h26	APN	16	58,987,891 (GRCm39)	nonsense	probably null
PIT4495001:Or5h26	UTSW	16	58,988,337 (GRCm39)	missense	possibly damaging	0.48
R0312:Or5h26	UTSW	16	58,988,202 (GRCm39)	missense	probably benign	0.00
R0644:Or5h26	UTSW	16	58,987,979 (GRCm39)	missense	probably damaging	1.00
R0679:Or5h26	UTSW	16	58,987,979 (GRCm39)	missense	probably damaging	1.00
R1709:Or5h26	UTSW	16	58,988,264 (GRCm39)	missense	probably benign	0.03
R1818:Or5h26	UTSW	16	58,988,243 (GRCm39)	missense	probably benign	0.00
R2090:Or5h26	UTSW	16	58,988,503 (GRCm39)	start codon destroyed	probably null	0.99
R5327:Or5h26	UTSW	16	58,987,983 (GRCm39)	missense	possibly damaging	0.96
R5945:Or5h26	UTSW	16	58,988,482 (GRCm39)	missense	probably benign	0.42
R6093:Or5h26	UTSW	16	58,988,330 (GRCm39)	missense	probably damaging	1.00
R6268:Or5h26	UTSW	16	58,987,656 (GRCm39)	splice site	probably null
R6487:Or5h26	UTSW	16	58,988,536 (GRCm39)	splice site	probably null
R6628:Or5h26	UTSW	16	58,988,344 (GRCm39)	missense	probably benign	0.00
R6679:Or5h26	UTSW	16	58,988,209 (GRCm39)	missense	probably benign
R7642:Or5h26	UTSW	16	58,988,080 (GRCm39)	missense	probably benign	0.01
R8285:Or5h26	UTSW	16	58,988,176 (GRCm39)	missense	probably benign	0.35
R8336:Or5h26	UTSW	16	58,987,918 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTGGAGATGCAGGACGCACATAC -3'
(R):5'- TCATCTGCCACAGTGGAAAATCCC -3'

Sequencing Primer
(F):5'- CTGAATACCTGAATTGAGCCAG -3'
(R):5'- AGTGGAAAATCCCCCTGTTC -3'

Posted On

2013-05-23