Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Or8b44'

575610

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

045498-MU

Accession Numbers

Essential gene?

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

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38409967-38410899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38410359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 131 (L131F)

Ref Sequence

ENSEMBL: ENSMUSP00000149897 (fasta)

Gene Model

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

AlphaFold

Q7TRC7

Predicted Effect

probably benign
Transcript: ENSMUST00000052901
AA Change: L131F

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051531
Gene: ENSMUSG00000094810
AA Change: L131F

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

probably benign
Transcript: ENSMUST00000214003
AA Change: L131F

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214264
AA Change: L131F

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,141,303 (GRCm39)	V6A	probably benign	Het
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hepacam	A	G	9: 37,292,005 (GRCm39)	D111G	probably benign	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lrrc37	A	T	11: 103,504,451 (GRCm39)	S2506T	probably benign	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,507 (GRCm39)	F121L	probably null	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 122,378,530 (GRCm39)		probably benign	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	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
R6997:Or8b44	UTSW	9	38,410,607 (GRCm39)	missense	possibly damaging	0.94
R7407:Or8b44	UTSW	9	38,410,800 (GRCm39)	nonsense	probably null
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'- ACGTGATAGCTACATTGGGG -3'
(R):5'- TACTGGTGCAGGAGATCTGG -3'

Sequencing Primer
(F):5'- GATAGCTACATTGGGGAATTTAGC -3'
(R):5'- TCTGGAGCAAAGGGAGGATGTC -3'

Posted On

2019-10-07