Mutagenetix > Incidental Mutation

Incidental Mutation 'R5999:Or1j10'

480704

Institutional Source

Beutler Lab

Gene Symbol

Or1j10

Ensembl Gene

ENSMUSG00000068950

Gene Name

olfactory receptor family 1 subfamily J member 10

Synonyms

GA_x6K02T2NLDC-33070879-33071799, Olfr338, MOR136-5

MMRRC Submission

044178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5999 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36266790-36267710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36267322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 178 (D178G)

Ref Sequence

ENSEMBL: ENSMUSP00000149146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000091006] [ENSMUST00000217511]

AlphaFold

Q8VGK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072114
AA Change: D178G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: D178G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.3e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.8e-8	PFAM
Pfam:7tm_1	41	290	1.1e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091006
AA Change: D178G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088528
Gene: ENSMUSG00000068950
AA Change: D178G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.9e-56	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217511
AA Change: D178G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.4253

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

98% (55/56)

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
Acot5	A	G	12: 84,122,328 (GRCm39)	D304G	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akap9	A	G	5: 4,093,925 (GRCm39)	N2149S	probably damaging	Het
Akp3	T	A	1: 87,055,263 (GRCm39)	Y437N	probably damaging	Het
Anks1b	C	T	10: 90,194,910 (GRCm39)	T530I	probably damaging	Het
Bltp2	T	C	11: 78,176,294 (GRCm39)	F1799L	probably damaging	Het
Bnc2	C	T	4: 84,474,137 (GRCm39)	R3H	probably benign	Het
Cald1	A	T	6: 34,723,273 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,315,817 (GRCm39)	T87A	probably damaging	Het
Ccdc88c	A	G	12: 100,934,613 (GRCm39)	L175P	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cd44	A	T	2: 102,675,742 (GRCm39)	N310K	probably benign	Het
Cenpc1	T	A	5: 86,160,122 (GRCm39)	K905N	probably damaging	Het
Cept1	A	T	3: 106,440,759 (GRCm39)	D133E	probably damaging	Het
Cltc	T	C	11: 86,594,955 (GRCm39)	H1381R	possibly damaging	Het
Col4a4	T	A	1: 82,470,340 (GRCm39)	T730S	unknown	Het
Col6a4	A	T	9: 105,945,120 (GRCm39)	M998K	probably benign	Het
Cpne6	T	C	14: 55,750,516 (GRCm39)	V119A	probably benign	Het
Ddx54	G	T	5: 120,761,645 (GRCm39)	A474S	probably benign	Het
Dmbx1	G	T	4: 115,775,373 (GRCm39)	N302K	probably damaging	Het
Dnah8	A	G	17: 30,882,279 (GRCm39)	E617G	probably benign	Het
Ei24	A	G	9: 36,704,603 (GRCm39)	V10A	probably benign	Het
Elp3	A	G	14: 65,768,989 (GRCm39)	V543A	probably benign	Het
Frmd3	T	C	4: 74,088,928 (GRCm39)	I375T	possibly damaging	Het
Gm6408	A	G	5: 146,421,067 (GRCm39)	D232G	possibly damaging	Het
Inmt	A	T	6: 55,151,933 (GRCm39)	Y12*	probably null	Het
Inpp5k	G	T	11: 75,523,926 (GRCm39)	A44S	probably damaging	Het
Kalrn	T	A	16: 34,177,713 (GRCm39)	T169S	probably damaging	Het
Kif28	A	T	1: 179,523,355 (GRCm39)	F992I	probably damaging	Het
Kmt2c	A	T	5: 25,489,203 (GRCm39)	Y1199N	probably damaging	Het
Large2	C	T	2: 92,196,403 (GRCm39)	E475K	probably benign	Het
Mroh2b	T	A	15: 4,942,366 (GRCm39)		probably null	Het
Mrpl42	T	C	10: 95,336,341 (GRCm39)		probably benign	Het
Muc5b	A	T	7: 141,411,116 (GRCm39)	H1354L	unknown	Het
Myof	C	A	19: 37,928,304 (GRCm39)	E1095*	probably null	Het
Ncor2	A	G	5: 125,110,505 (GRCm39)	V1385A	probably damaging	Het
Nr5a2	T	C	1: 136,773,280 (GRCm39)	Y474C	probably damaging	Het
Or5a21	C	T	19: 12,311,008 (GRCm39)	D71N	probably damaging	Het
Or5l13	A	T	2: 87,780,145 (GRCm39)		probably null	Het
Pogz	A	G	3: 94,763,428 (GRCm39)	T67A	possibly damaging	Het
Prep	T	A	10: 44,948,225 (GRCm39)		probably null	Het
Prf1	A	G	10: 61,138,807 (GRCm39)	D255G	probably damaging	Het
Psme2	A	G	14: 55,827,539 (GRCm39)	L24P	probably damaging	Het
Scmh1	T	A	4: 120,362,712 (GRCm39)		probably null	Het
Scpep1	A	G	11: 88,820,139 (GRCm39)	V383A	possibly damaging	Het
Slc4a10	A	T	2: 62,073,775 (GRCm39)	N279I	probably benign	Het
Sphkap	T	C	1: 83,245,126 (GRCm39)	S1498G	probably benign	Het
Spinkl	C	A	18: 44,301,206 (GRCm39)	S44I	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tle5	T	C	10: 81,397,098 (GRCm39)	S25P	probably damaging	Het
Tmem213	A	G	6: 38,086,386 (GRCm39)	Q14R	probably benign	Het
Tns1	A	T	1: 73,967,256 (GRCm39)	Y1172*	probably null	Het
Ugt2b37	A	C	5: 87,402,036 (GRCm39)	I198M	probably benign	Het
Usp17lb	A	C	7: 104,489,552 (GRCm39)	I457M	probably damaging	Het
Usp6nl	G	T	2: 6,446,150 (GRCm39)	R709L	probably damaging	Het
Zer1	A	G	2: 29,995,009 (GRCm39)	L462P	probably damaging	Het
Zfhx2	A	G	14: 55,311,462 (GRCm39)	S411P	probably benign	Het

Other mutations in Or1j10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or1j10	APN	2	36,266,928 (GRCm39)	missense	probably damaging	0.99
IGL01089:Or1j10	APN	2	36,267,178 (GRCm39)	missense	probably damaging	1.00
IGL01298:Or1j10	APN	2	36,267,460 (GRCm39)	missense	probably benign	0.01
IGL01300:Or1j10	APN	2	36,267,054 (GRCm39)	missense	probably benign	0.13
IGL01632:Or1j10	APN	2	36,267,576 (GRCm39)	missense	probably benign	0.02
IGL02480:Or1j10	APN	2	36,267,504 (GRCm39)	missense	probably damaging	0.98
IGL02519:Or1j10	APN	2	36,267,325 (GRCm39)	missense	possibly damaging	0.84
IGL02658:Or1j10	APN	2	36,267,072 (GRCm39)	missense	probably damaging	0.97
IGL02716:Or1j10	APN	2	36,267,355 (GRCm39)	missense	possibly damaging	0.88
IGL02983:Or1j10	APN	2	36,267,649 (GRCm39)	missense	probably damaging	1.00
IGL03334:Or1j10	APN	2	36,267,063 (GRCm39)	missense	possibly damaging	0.66
IGL03054:Or1j10	UTSW	2	36,266,944 (GRCm39)	missense	possibly damaging	0.65
R0469:Or1j10	UTSW	2	36,267,474 (GRCm39)	missense	probably benign	0.02
R1263:Or1j10	UTSW	2	36,267,006 (GRCm39)	missense	probably damaging	0.99
R1500:Or1j10	UTSW	2	36,267,633 (GRCm39)	missense	probably benign	0.04
R2444:Or1j10	UTSW	2	36,267,625 (GRCm39)	missense	possibly damaging	0.59
R5571:Or1j10	UTSW	2	36,267,129 (GRCm39)	missense	probably benign	0.01
R6030:Or1j10	UTSW	2	36,267,556 (GRCm39)	missense	probably damaging	0.97
R6030:Or1j10	UTSW	2	36,267,556 (GRCm39)	missense	probably damaging	0.97
R6351:Or1j10	UTSW	2	36,267,208 (GRCm39)	missense	possibly damaging	0.78
R6695:Or1j10	UTSW	2	36,267,117 (GRCm39)	missense	probably benign	0.28
R6785:Or1j10	UTSW	2	36,266,963 (GRCm39)	nonsense	probably null
R6785:Or1j10	UTSW	2	36,266,854 (GRCm39)	missense	probably benign	0.12
R7795:Or1j10	UTSW	2	36,267,453 (GRCm39)	missense	probably benign	0.05
R7814:Or1j10	UTSW	2	36,266,821 (GRCm39)	missense	possibly damaging	0.48
R7878:Or1j10	UTSW	2	36,267,145 (GRCm39)	missense	probably damaging	1.00
R8820:Or1j10	UTSW	2	36,267,006 (GRCm39)	missense	probably damaging	1.00
R8952:Or1j10	UTSW	2	36,267,402 (GRCm39)	missense	probably benign	0.01
R9512:Or1j10	UTSW	2	36,267,325 (GRCm39)	missense	possibly damaging	0.84
R9676:Or1j10	UTSW	2	36,266,848 (GRCm39)	missense	probably benign	0.01
R9705:Or1j10	UTSW	2	36,266,962 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAGGCATTGATAGCTTTCTTCTG -3'
(R):5'- ACATGTGGACAAGGCTTTGC -3'

Sequencing Primer
(F):5'- CTGACTTCCATGGCATATGACAGG -3'
(R):5'- GACAAGGCTTTGCAGATTCC -3'

Posted On

2017-06-26