Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Or8j3b'

326514

Institutional Source

Beutler Lab

Gene Symbol

Or8j3b

Ensembl Gene

ENSMUSG00000075187

Gene Name

olfactory receptor family 8 subfamily J member 3B

Synonyms

MOR185-11, GA_x6K02T2Q125-47844843-47843896, Olfr1057

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4394 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

86204807-86205754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86205523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 78 (A78T)

Ref Sequence

ENSEMBL: ENSMUSP00000150623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099892] [ENSMUST00000217435]

AlphaFold

Q7TR75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099892
AA Change: A78T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: A78T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.3e-47	PFAM
Pfam:7tm_1	41	290	1.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217435
AA Change: A78T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

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
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	Het

Other mutations in Or8j3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02403:Or8j3b	APN	2	86,204,867 (GRCm39)	missense	probably benign	0.05
IGL03267:Or8j3b	APN	2	86,204,978 (GRCm39)	nonsense	probably null
R0133:Or8j3b	UTSW	2	86,205,159 (GRCm39)	missense	possibly damaging	0.95
R0993:Or8j3b	UTSW	2	86,205,222 (GRCm39)	missense	probably damaging	0.99
R1386:Or8j3b	UTSW	2	86,205,265 (GRCm39)	missense	probably damaging	1.00
R1830:Or8j3b	UTSW	2	86,205,487 (GRCm39)	missense	possibly damaging	0.95
R2398:Or8j3b	UTSW	2	86,205,183 (GRCm39)	missense	probably damaging	0.98
R3753:Or8j3b	UTSW	2	86,205,259 (GRCm39)	missense	possibly damaging	0.53
R4605:Or8j3b	UTSW	2	86,205,141 (GRCm39)	missense	probably benign	0.01
R4835:Or8j3b	UTSW	2	86,204,853 (GRCm39)	missense	possibly damaging	0.93
R5029:Or8j3b	UTSW	2	86,205,234 (GRCm39)	missense	probably damaging	1.00
R5311:Or8j3b	UTSW	2	86,205,094 (GRCm39)	missense	possibly damaging	0.91
R7487:Or8j3b	UTSW	2	86,205,475 (GRCm39)	missense	probably damaging	1.00
R7667:Or8j3b	UTSW	2	86,205,525 (GRCm39)	missense	probably damaging	0.99
R7770:Or8j3b	UTSW	2	86,205,604 (GRCm39)	missense	possibly damaging	0.53
R7888:Or8j3b	UTSW	2	86,205,270 (GRCm39)	missense	probably benign	0.02
R8678:Or8j3b	UTSW	2	86,205,069 (GRCm39)	missense	probably benign	0.01
R9614:Or8j3b	UTSW	2	86,205,012 (GRCm39)	missense	probably damaging	0.99
Z1176:Or8j3b	UTSW	2	86,205,459 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CACCACCATGTAGAGCAGTG -3'
(R):5'- AACAGGGAATCTCACTCATGTCAC -3'

Sequencing Primer
(F):5'- CACCATGTAGAGCAGTGGGTTG -3'
(R):5'- GTATCTGACCGTCCAGAACTG -3'

Posted On

2015-07-06