Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Or8b44'

544288

Institutional Source

Beutler Lab

Gene Symbol

Or8b44

Ensembl Gene

ENSMUSG00000094810

Gene Name

olfactory receptor family 8 subfamily B member 44

Synonyms

MOR165-5, GA_x6K02T2PVTD-32204729-32205661, Olfr907

MMRRC Submission

045103-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38409967-38410899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38410607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 214 (I214T)

Ref Sequence

ENSEMBL: ENSMUSP00000148894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052901] [ENSMUST00000214003] [ENSMUST00000214264]

AlphaFold

Q7TRC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052901
AA Change: I214T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051531
Gene: ENSMUSG00000094810
AA Change: I214T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.4e-46	PFAM
Pfam:7tm_1	41	290	2.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214003
AA Change: I214T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214264
AA Change: I214T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

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
Adam3	T	C	8: 25,171,539 (GRCm39)	Y764C	probably benign	Het
Atxn1	C	T	13: 45,721,095 (GRCm39)	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793 (GRCm38)	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,474 (GRCm39)	L111P	probably damaging	Het
Ccl8	A	T	11: 82,006,865 (GRCm39)	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,882,596 (GRCm39)		probably benign	Het
Cnga3	C	A	1: 37,283,965 (GRCm39)	H89Q	probably benign	Het
Cnga4	A	T	7: 105,056,190 (GRCm39)	Q264L	probably damaging	Het
Coil	A	G	11: 88,872,673 (GRCm39)	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,723,281 (GRCm39)	L461P	probably damaging	Het
Dock2	T	C	11: 34,414,922 (GRCm39)	E151G	probably damaging	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,168,743 (GRCm39)	C357S	probably null	Het
Ebf3	A	C	7: 136,826,994 (GRCm39)	I306R	probably damaging	Het
Eprs1	A	G	1: 185,128,360 (GRCm39)	H580R	possibly damaging	Het
Ermap	A	T	4: 119,035,810 (GRCm39)	F393I	probably damaging	Het
Flii	T	C	11: 60,613,151 (GRCm39)	T217A	probably benign	Het
Fras1	C	T	5: 96,762,732 (GRCm39)	Q745*	probably null	Het
Gja8	A	G	3: 96,826,657 (GRCm39)	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333 (GRCm38)	N48K	probably damaging	Het
Gpr158	C	T	2: 21,653,802 (GRCm39)	T457I	possibly damaging	Het
Kcnv1	A	T	15: 44,977,997 (GRCm39)	S14T	unknown	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Map1b	T	C	13: 99,567,142 (GRCm39)	T1860A	unknown	Het
Map2k7	T	C	8: 4,294,035 (GRCm39)	Y194H	possibly damaging	Het
Map4	T	A	9: 109,881,982 (GRCm39)	M282K	probably benign	Het
Mmp10	A	G	9: 7,503,531 (GRCm39)	I134V	probably benign	Het
Mrtfa	G	T	15: 80,902,649 (GRCm39)	S220*	probably null	Het
Msh5	A	T	17: 35,248,978 (GRCm39)	L685Q	probably damaging	Het
Myh1	T	A	11: 67,111,463 (GRCm39)	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,217,980 (GRCm39)	R18*	probably null	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Ninl	G	T	2: 150,808,145 (GRCm39)	H294Q	probably benign	Het
Or4a79	G	A	2: 89,552,269 (GRCm39)	A62V	possibly damaging	Het
Or51b17	A	T	7: 103,542,238 (GRCm39)	S235T	probably benign	Het
Orm3	T	A	4: 63,275,180 (GRCm39)	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,889,281 (GRCm39)	N432S	probably benign	Het
Pikfyve	T	A	1: 65,285,822 (GRCm39)	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371 (GRCm38)	D60E	probably benign	Het
Rack1	T	A	11: 48,694,752 (GRCm39)	V198E	probably damaging	Het
Ripk1	C	T	13: 34,201,100 (GRCm39)	A271V	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	T	13: 11,669,266 (GRCm39)	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,534,147 (GRCm39)	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfxn5	A	G	6: 85,233,414 (GRCm39)	V181A	probably benign	Het
Slc5a4b	C	T	10: 75,925,812 (GRCm39)	A198T	probably damaging	Het
Sp2	C	T	11: 96,848,552 (GRCm39)	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tnfrsf11b	G	A	15: 54,115,770 (GRCm39)	L276F	probably damaging	Het
Usp37	A	G	1: 74,493,118 (GRCm39)	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844 (GRCm39)	R36I	probably damaging	Het
Vcan	T	C	13: 89,838,737 (GRCm39)	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,485,338 (GRCm39)	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 9,902,998 (GRCm39)	G477R	probably benign	Het
Vmn2r60	C	A	7: 41,791,716 (GRCm39)	N546K	probably benign	Het
Wnt8b	G	A	19: 44,500,280 (GRCm39)	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,329,925 (GRCm39)	M10R	probably benign	Het
Zfp945	T	A	17: 23,071,543 (GRCm39)	K140*	probably null	Het

Other mutations in Or8b44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Or8b44	APN	9	38,410,171 (GRCm39)	missense	probably benign	0.04
IGL01960:Or8b44	APN	9	38,410,003 (GRCm39)	missense	probably damaging	1.00
IGL02612:Or8b44	APN	9	38,410,769 (GRCm39)	missense	probably benign	0.01
R0366:Or8b44	UTSW	9	38,410,450 (GRCm39)	missense	possibly damaging	0.94
R0400:Or8b44	UTSW	9	38,410,207 (GRCm39)	missense	possibly damaging	0.63
R0726:Or8b44	UTSW	9	38,410,418 (GRCm39)	missense	possibly damaging	0.72
R1511:Or8b44	UTSW	9	38,410,114 (GRCm39)	missense	probably benign
R1663:Or8b44	UTSW	9	38,410,868 (GRCm39)	missense	unknown
R1763:Or8b44	UTSW	9	38,410,334 (GRCm39)	missense	probably damaging	1.00
R4810:Or8b44	UTSW	9	38,410,620 (GRCm39)	nonsense	probably null
R4851:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b44	UTSW	9	38,410,585 (GRCm39)	missense	probably damaging	1.00
R5535:Or8b44	UTSW	9	38,410,294 (GRCm39)	missense	probably benign	0.10
R5576:Or8b44	UTSW	9	38,410,204 (GRCm39)	missense	probably damaging	1.00
R5618:Or8b44	UTSW	9	38,410,036 (GRCm39)	nonsense	probably null
R5829:Or8b44	UTSW	9	38,410,545 (GRCm39)	nonsense	probably null
R6249:Or8b44	UTSW	9	38,410,880 (GRCm39)	missense	unknown
R6353:Or8b44	UTSW	9	38,410,112 (GRCm39)	missense	probably benign	0.30
R6580:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R6611:Or8b44	UTSW	9	38,410,534 (GRCm39)	missense	probably damaging	1.00
R7407:Or8b44	UTSW	9	38,410,800 (GRCm39)	nonsense	probably null
R7420:Or8b44	UTSW	9	38,410,359 (GRCm39)	missense	probably benign	0.11
R7567:Or8b44	UTSW	9	38,410,369 (GRCm39)	missense	probably benign	0.00
R8382:Or8b44	UTSW	9	38,410,588 (GRCm39)	missense	probably damaging	0.98
X0028:Or8b44	UTSW	9	38,410,386 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGGCCATTTGCAATCCACTC -3'
(R):5'- GGTCCATAGACTCAACTGAGG -3'

Sequencing Primer
(F):5'- TCTGGTGCCATGATCCATACTGG -3'
(R):5'- CTCAACTGAGGAGGGTTTTAGATAC -3'

Posted On

2019-05-13