Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Or1j21'

557780

Institutional Source

Beutler Lab

Gene Symbol

Or1j21

Ensembl Gene

ENSMUSG00000111021

Gene Name

olfactory receptor family 1 subfamily J member 21

Synonyms

MOR136-6, GA_x6K02T2NLDC-33487752-33488690, ID3, Olfr50

MMRRC Submission

045331-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36683250-36684188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36683709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

Ref Sequence

ENSEMBL: ENSMUSP00000149484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000112950
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: S154P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	3.5e-34	PFAM
Pfam:7tm_4	140	284	3.9e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213498

Predicted Effect

probably benign
Transcript: ENSMUST00000214909

Predicted Effect

probably benign
Transcript: ENSMUST00000215199

Predicted Effect

probably benign
Transcript: ENSMUST00000216753
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217041
AA Change: S154P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Ajm1	T	A	2: 25,468,579 (GRCm39)	H444L	possibly damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Espl1	T	C	15: 102,221,638 (GRCm39)	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm39)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,297,995 (GRCm39)	D202V	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or5ae2	A	G	7: 84,506,251 (GRCm39)	I227V	possibly damaging	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly damaging	Het

Other mutations in Or1j21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Or1j21	APN	2	36,684,012 (GRCm39)	missense	probably benign	0.05
IGL02316:Or1j21	APN	2	36,683,632 (GRCm39)	missense	probably damaging	0.98
IGL02330:Or1j21	APN	2	36,683,907 (GRCm39)	missense	probably benign	0.00
IGL03144:Or1j21	APN	2	36,684,093 (GRCm39)	missense	probably benign	0.44
R0092:Or1j21	UTSW	2	36,683,508 (GRCm39)	missense	probably benign	0.06
R0113:Or1j21	UTSW	2	36,684,007 (GRCm39)	missense	probably damaging	0.99
R0113:Or1j21	UTSW	2	36,684,006 (GRCm39)	missense	probably damaging	0.98
R0604:Or1j21	UTSW	2	36,684,119 (GRCm39)	nonsense	probably null
R0932:Or1j21	UTSW	2	36,683,903 (GRCm39)	nonsense	probably null
R1191:Or1j21	UTSW	2	36,683,350 (GRCm39)	missense	probably damaging	0.97
R1238:Or1j21	UTSW	2	36,683,601 (GRCm39)	missense	probably damaging	1.00
R1525:Or1j21	UTSW	2	36,684,155 (GRCm39)	missense	probably null	0.01
R3103:Or1j21	UTSW	2	36,683,574 (GRCm39)	missense	possibly damaging	0.80
R3955:Or1j21	UTSW	2	36,683,565 (GRCm39)	missense	probably benign	0.34
R4573:Or1j21	UTSW	2	36,683,491 (GRCm39)	missense	probably damaging	1.00
R5256:Or1j21	UTSW	2	36,683,685 (GRCm39)	missense	probably benign
R5650:Or1j21	UTSW	2	36,683,277 (GRCm39)	missense	probably benign	0.36
R6130:Or1j21	UTSW	2	36,684,055 (GRCm39)	missense	probably benign	0.01
R6175:Or1j21	UTSW	2	36,683,980 (GRCm39)	missense	probably damaging	1.00
R6320:Or1j21	UTSW	2	36,683,585 (GRCm39)	missense	possibly damaging	0.90
R6481:Or1j21	UTSW	2	36,683,789 (GRCm39)	missense	possibly damaging	0.63
R7622:Or1j21	UTSW	2	36,683,943 (GRCm39)	missense	probably benign	0.06
R8391:Or1j21	UTSW	2	36,684,096 (GRCm39)	missense	probably damaging	0.99
R8846:Or1j21	UTSW	2	36,683,689 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCACAGCTCCAAAGATGCTC -3'
(R):5'- ACAGTGATGACCACCACTGC -3'

Sequencing Primer
(F):5'- AATCCATCTCACATGCTGGGTG -3'
(R):5'- GTGATGACCACCACTGCTAAAG -3'

Posted On

2019-06-26