Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Or8b37'

218497

Institutional Source

Beutler Lab

Gene Symbol

Or8b37

Ensembl Gene

ENSMUSG00000095893

Gene Name

olfactory receptor family 8 subfamily B member 37

Synonyms

GA_x6K02T2PVTD-31726544-31727473, MOR162-9P, MOR162-11P, Olfr1550-ps1, MOR162-13, Olfr884, MOR162-11P

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0715 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37957851-37961433 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37959123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 202 (V202L)

Ref Sequence

ENSEMBL: ENSMUSP00000138035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077732] [ENSMUST00000181088]

AlphaFold

Q7TRE1

Predicted Effect

probably benign
Transcript: ENSMUST00000077732
AA Change: V202L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076912
Gene: ENSMUSG00000095893
AA Change: V202L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	8e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	300	1.5e-6	PFAM
Pfam:7tm_1	41	288	5.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181088
AA Change: V202L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138035
Gene: ENSMUSG00000095893
AA Change: V202L

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	35	300	1.5e-6	PFAM
Pfam:7tm_1	41	288	4.6e-30	PFAM
Pfam:7tm_4	138	281	3.9e-45	PFAM

Meta Mutation Damage Score

0.2502

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

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
4930438A08Rik	A	G	11: 58,179,176 (GRCm39)	Y170C	probably damaging	Het
Adcy2	C	T	13: 69,036,161 (GRCm39)	V167I	probably benign	Het
Agl	A	G	3: 116,545,825 (GRCm39)	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,641,860 (GRCm39)	Q170K	probably damaging	Het
Asah2	A	G	19: 31,994,176 (GRCm39)	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,932,068 (GRCm39)	H240Q	probably benign	Het
Btbd16	T	A	7: 130,390,557 (GRCm39)	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,803,499 (GRCm39)		probably benign	Het
Cecr2	G	T	6: 120,735,159 (GRCm39)	M21I	probably benign	Het
Ckap2l	T	C	2: 129,127,636 (GRCm39)	T181A	probably benign	Het
Col4a3	T	C	1: 82,629,879 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,252,576 (GRCm39)	C1933S	probably benign	Het
Dnah9	A	G	11: 65,972,074 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,611,706 (GRCm39)	L516P	possibly damaging	Het
Fat3	T	C	9: 16,286,419 (GRCm39)	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947 (GRCm39)	T10A	unknown	Het
Gm9631	C	A	11: 121,833,328 (GRCm39)	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,531,614 (GRCm39)		probably benign	Het
Gsk3a	A	G	7: 24,931,134 (GRCm39)	V277A	probably damaging	Het
H2-M1	T	A	17: 36,981,120 (GRCm39)		probably benign	Het
Hesx1	T	A	14: 26,722,809 (GRCm39)	W45R	probably damaging	Het
Il23r	T	A	6: 67,463,317 (GRCm39)	M59L	possibly damaging	Het
Insc	T	A	7: 114,444,312 (GRCm39)	V433E	probably benign	Het
Itga8	T	C	2: 12,196,053 (GRCm39)		probably benign	Het
Kif13a	T	A	13: 46,966,299 (GRCm39)	E436V	probably damaging	Het
Liph	A	G	16: 21,814,100 (GRCm39)	F7S	probably benign	Het
Lpar2	T	C	8: 70,276,823 (GRCm39)	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,662,668 (GRCm39)		probably null	Het
Man2b2	A	T	5: 36,983,402 (GRCm39)	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,156 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,705,639 (GRCm39)		probably benign	Het
Mtx3	T	C	13: 92,986,869 (GRCm39)	S271P	probably damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Necab2	A	G	8: 120,197,670 (GRCm39)	D332G	probably damaging	Het
Ngfr	A	G	11: 95,465,065 (GRCm39)	I261T	possibly damaging	Het
Nrap	T	C	19: 56,345,757 (GRCm39)	E617G	probably damaging	Het
Obscn	G	T	11: 58,941,306 (GRCm39)	T4505K	probably benign	Het
Or8b57	A	G	9: 40,003,807 (GRCm39)	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,062,100 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,552,041 (GRCm39)	V301A	probably damaging	Het
Phf3	A	T	1: 30,850,919 (GRCm39)	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,626,540 (GRCm39)	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,811,127 (GRCm39)	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,721,984 (GRCm39)	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,331,976 (GRCm39)	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,373,341 (GRCm39)	E836G	possibly damaging	Het
Simc1	G	T	13: 54,673,468 (GRCm39)	M605I	possibly damaging	Het
Slc12a3	G	A	8: 95,056,061 (GRCm39)	E66K	possibly damaging	Het
Spg11	T	C	2: 121,915,464 (GRCm39)	N1060S	probably benign	Het
Supt5	A	T	7: 28,028,462 (GRCm39)	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,756,740 (GRCm39)	F126L	probably benign	Het
Ube2m	T	A	7: 12,771,553 (GRCm39)	Q35L	probably benign	Het
Usp33	A	G	3: 152,086,211 (GRCm39)	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,238,373 (GRCm39)	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,104,434 (GRCm39)	D352E	probably damaging	Het
Zfp516	A	G	18: 83,005,388 (GRCm39)	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,167,473 (GRCm39)		probably benign	Het

Other mutations in Or8b37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Or8b37	APN	9	37,959,036 (GRCm39)	missense	probably damaging	1.00
IGL02612:Or8b37	APN	9	37,958,662 (GRCm39)	missense	probably damaging	1.00
IGL02802:Or8b37	UTSW	9	37,959,345 (GRCm39)	missense	probably damaging	0.99
R0015:Or8b37	UTSW	9	37,958,963 (GRCm39)	nonsense	probably null
R0142:Or8b37	UTSW	9	37,959,406 (GRCm39)	missense	probably benign	0.37
R0559:Or8b37	UTSW	9	37,959,123 (GRCm39)	missense	probably benign	0.16
R0561:Or8b37	UTSW	9	37,959,123 (GRCm39)	missense	probably benign	0.16
R0723:Or8b37	UTSW	9	37,959,123 (GRCm39)	missense	probably benign	0.16
R0729:Or8b37	UTSW	9	37,959,123 (GRCm39)	missense	probably benign	0.16
R1350:Or8b37	UTSW	9	37,959,111 (GRCm39)	missense	probably benign	0.02
R1869:Or8b37	UTSW	9	37,959,498 (GRCm39)	splice site	probably null
R3917:Or8b37	UTSW	9	37,958,841 (GRCm39)	missense	probably damaging	1.00
R4131:Or8b37	UTSW	9	37,959,170 (GRCm39)	nonsense	probably null
R4764:Or8b37	UTSW	9	37,959,436 (GRCm39)	missense	probably benign
R5857:Or8b37	UTSW	9	37,959,049 (GRCm39)	missense	probably benign	0.18
R5976:Or8b37	UTSW	9	37,958,997 (GRCm39)	missense	possibly damaging	0.80
R6329:Or8b37	UTSW	9	37,959,121 (GRCm39)	missense	probably benign	0.02
R7344:Or8b37	UTSW	9	37,959,253 (GRCm39)	missense	probably benign
R8289:Or8b37	UTSW	9	37,959,000 (GRCm39)	missense	probably benign	0.02
R8485:Or8b37	UTSW	9	37,959,253 (GRCm39)	missense	probably benign	0.00
R8973:Or8b37	UTSW	9	37,958,839 (GRCm39)	missense	possibly damaging	0.95
R9026:Or8b37	UTSW	9	37,958,885 (GRCm39)	nonsense	probably null
R9378:Or8b37	UTSW	9	37,958,775 (GRCm39)	missense	possibly damaging	0.67
R9395:Or8b37	UTSW	9	37,959,136 (GRCm39)	missense	probably damaging	0.99
R9655:Or8b37	UTSW	9	37,959,387 (GRCm39)	missense	probably benign	0.00
R9731:Or8b37	UTSW	9	37,958,892 (GRCm39)	missense	probably damaging	1.00
RF009:Or8b37	UTSW	9	37,959,043 (GRCm39)	missense	probably damaging	1.00
X0052:Or8b37	UTSW	9	37,958,995 (GRCm39)	missense	possibly damaging	0.53
Z1177:Or8b37	UTSW	9	37,959,111 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTTTACCAGGTCACCATGTCTCATCAG -3'
(R):5'- AGATGAAAGGATTCAGCATTGGACCC -3'

Sequencing Primer
(F):5'- AGGTCTGCCTATTGATGACTATG -3'
(R):5'- TTCAGCATTGGACCCAAAATGG -3'

Posted On

2014-08-11