Mutagenetix > Incidental Mutation

Incidental Mutation 'R9614:Or8j3b'

724419

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

Accession Numbers

Essential gene?

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

Stock #

R9614 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86204807-86205754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86205012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000150623 (fasta)

Gene Model

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

AlphaFold

Q7TR75

Predicted Effect

probably damaging
Transcript: ENSMUST00000099892
AA Change: V248A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: V248A

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

probably damaging
Transcript: ENSMUST00000217435
AA Change: V248A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,364 (GRCm39)	T317I	possibly damaging	Het
Adamts7	T	A	9: 90,077,251 (GRCm39)	V1306E	probably damaging	Het
Adcy9	C	T	16: 4,106,547 (GRCm39)	D1093N	probably damaging	Het
Adgra3	A	G	5: 50,164,250 (GRCm39)	V243A	probably damaging	Het
Aqp4	C	T	18: 15,526,687 (GRCm39)	A265T	probably benign	Het
Atad2	A	T	15: 57,970,119 (GRCm39)		probably null	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Best2	A	C	8: 85,740,051 (GRCm39)	C38G		Het
Bicra	A	T	7: 15,705,880 (GRCm39)	S1520R	probably damaging	Het
C1s2	A	G	6: 124,602,588 (GRCm39)	L541P	probably damaging	Het
Calcoco2	T	A	11: 95,991,185 (GRCm39)	H184L	probably benign	Het
Cav1	A	T	6: 17,339,403 (GRCm39)	I163F	probably benign	Het
Cep57l1	T	C	10: 41,597,563 (GRCm39)	H356R	probably damaging	Het
Clu	A	C	14: 66,208,851 (GRCm39)	H32P	unknown	Het
Col5a1	T	A	2: 27,879,186 (GRCm39)	D840E	unknown	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Csmd1	C	A	8: 16,208,239 (GRCm39)	V1239L	probably benign	Het
Cubn	T	A	2: 13,482,945 (GRCm39)	Q267L	probably benign	Het
Cul7	C	T	17: 46,975,212 (GRCm39)	R1689W	probably damaging	Het
Dao	A	T	5: 114,152,060 (GRCm39)	D126V	probably benign	Het
Eif3l	T	C	15: 78,978,423 (GRCm39)	M560T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,379 (GRCm39)	I154N	probably damaging	Het
Fam184a	T	C	10: 53,517,144 (GRCm39)	E980G	probably damaging	Het
Fgf21	T	C	7: 45,264,703 (GRCm39)	T10A	probably benign	Het
Fhad1	A	C	4: 141,678,882 (GRCm39)	V598G	possibly damaging	Het
Foxc1	A	T	13: 31,991,863 (GRCm39)	I225F	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Galnt9	G	A	5: 110,744,047 (GRCm39)	G294S	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Idh2	A	T	7: 79,747,925 (GRCm39)	Y258*	probably null	Het
Immp2l	T	C	12: 41,160,933 (GRCm39)	V77A	probably damaging	Het
Isl1	T	C	13: 116,441,924 (GRCm39)	E103G		Het
Itgad	A	T	7: 127,803,022 (GRCm39)	T1059S	probably damaging	Het
Kcnj6	G	A	16: 94,633,307 (GRCm39)	T268I	probably damaging	Het
Lgals3bp	A	G	11: 118,284,037 (GRCm39)	V514A	probably benign	Het
Mcfd2	A	T	17: 87,565,421 (GRCm39)	H27Q	probably benign	Het
Mettl13	A	G	1: 162,364,769 (GRCm39)	W537R	probably damaging	Het
Mybl2	G	T	2: 162,906,225 (GRCm39)	G102V	probably damaging	Het
Nars2	C	T	7: 96,689,125 (GRCm39)	T349M	probably damaging	Het
Nat8f3	A	T	6: 85,738,708 (GRCm39)	V18E		Het
Npepps	T	C	11: 97,149,177 (GRCm39)	E115G	probably benign	Het
Odad3	T	C	9: 21,904,310 (GRCm39)	D322G	probably benign	Het
Oog2	T	A	4: 143,922,707 (GRCm39)	V324E	probably damaging	Het
Or2y12	T	A	11: 49,426,071 (GRCm39)	W20R	probably damaging	Het
Or7g12	A	T	9: 18,899,526 (GRCm39)	M81L	possibly damaging	Het
Or8d2b	G	A	9: 38,789,281 (GRCm39)	V270M	probably damaging	Het
Pdzd2	A	G	15: 12,375,486 (GRCm39)	S1550P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pms2	T	C	5: 143,854,420 (GRCm39)	V243A	probably benign	Het
Ptpn9	A	G	9: 56,944,005 (GRCm39)	D293G	probably benign	Het
Ptprb	A	G	10: 116,203,441 (GRCm39)	K1784R	probably damaging	Het
Rab23	CAA	CA	1: 33,764,077 (GRCm39)		probably null	Het
Raf1	T	C	6: 115,596,597 (GRCm39)	N576D	probably benign	Het
Rasa4	C	A	5: 136,140,343 (GRCm39)	H782Q	possibly damaging	Het
Rims1	C	A	1: 22,491,969 (GRCm39)	E168*	probably null	Het
Rpgrip1l	A	T	8: 91,987,434 (GRCm39)	N874K	possibly damaging	Het
Rxfp4	C	T	3: 88,559,969 (GRCm39)	V161I	possibly damaging	Het
Scel	G	A	14: 103,843,032 (GRCm39)	G558D	probably damaging	Het
Sipa1l2	T	C	8: 126,196,565 (GRCm39)	K723R	probably null	Het
Slc12a1	A	T	2: 125,002,445 (GRCm39)	R142W	probably damaging	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Sox4	C	T	13: 29,136,079 (GRCm39)	G309D	probably damaging	Het
Terb1	T	C	8: 105,223,476 (GRCm39)	T111A	probably benign	Het
Tgfa	G	A	6: 86,248,397 (GRCm39)	R133H	probably damaging	Het
Ticrr	T	C	7: 79,345,754 (GRCm39)	S1836P	probably damaging	Het
Tlk2	A	G	11: 105,138,328 (GRCm39)	D292G	probably benign	Het
Tmc7	A	G	7: 118,141,160 (GRCm39)	I657T	probably benign	Het
Tmprss11c	G	A	5: 86,383,379 (GRCm39)	T349I	probably benign	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Tsc22d1	T	G	14: 76,653,983 (GRCm39)	I154S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,587 (GRCm39)	Y169H	probably damaging	Het
Vmn1r77	G	T	7: 11,775,766 (GRCm39)	V181L	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
R4394:Or8j3b	UTSW	2	86,205,523 (GRCm39)	missense	possibly damaging	0.77
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
Z1176:Or8j3b	UTSW	2	86,205,459 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CCAACAATATCTTTGAAGAACAGTGCC -3'
(R):5'- CACTCACCTTCCAGAAACTGTTG -3'

Sequencing Primer
(F):5'- CATATAAGATTGAATCGTTTGCATGG -3'
(R):5'- TGAGGATCCGTTCATCTG -3'

Posted On

2022-09-12