Mutagenetix > Incidental Mutation

Incidental Mutation 'R0113:Or1j21'

20567

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

038399-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R0113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36683250-36684188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36684007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 253 (G253V)

Ref Sequence

ENSEMBL: ENSMUSP00000149484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000072114
AA Change: G253V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: G253V

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: ENSMUST00000112950
AA Change: G253V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: G253V

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 damaging
Transcript: ENSMUST00000216753
AA Change: G253V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217041
AA Change: G253V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6406

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 95.2%
20x: 87.5%

Validation Efficiency

99% (70/71)

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
3930402G23Rik	A	G	8: 10,976,126 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,242,114 (GRCm39)	I1326F	possibly damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Aspscr1	C	G	11: 120,579,751 (GRCm39)	Q97E	probably damaging	Het
Atad2	A	G	15: 57,984,330 (GRCm39)		probably benign	Het
Atcay	A	T	10: 81,050,554 (GRCm39)		probably null	Het
Brme1	C	T	8: 84,893,871 (GRCm39)	T311I	probably damaging	Het
C4b	T	A	17: 34,960,214 (GRCm39)	Y279F	probably damaging	Het
Cav1	A	T	6: 17,308,048 (GRCm39)	S67C	possibly damaging	Het
Ceacam23	G	A	7: 17,642,873 (GRCm39)		noncoding transcript	Het
Celf2	A	C	2: 6,629,525 (GRCm39)	H113Q	probably damaging	Het
Cep170	A	C	1: 176,586,021 (GRCm39)	N590K	probably damaging	Het
Ces1f	A	T	8: 94,006,327 (GRCm39)	M1K	probably null	Het
Chrna1	C	A	2: 73,397,180 (GRCm39)	D370Y	possibly damaging	Het
Csmd1	C	A	8: 16,034,849 (GRCm39)	G2441C	probably damaging	Het
D630003M21Rik	C	T	2: 158,038,495 (GRCm39)	D984N	possibly damaging	Het
Dhrs1	T	C	14: 55,977,396 (GRCm39)	T241A	probably benign	Het
Edar	A	C	10: 58,465,271 (GRCm39)	C31G	probably damaging	Het
Eps8	A	G	6: 137,514,682 (GRCm39)	S24P	possibly damaging	Het
Fam149a	T	C	8: 45,794,061 (GRCm39)	E669G	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
G3bp1	T	A	11: 55,386,252 (GRCm39)	V237E	probably benign	Het
Galnt5	A	G	2: 57,888,889 (GRCm39)	E163G	probably benign	Het
Gpr87	T	C	3: 59,086,932 (GRCm39)	D192G	possibly damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Ints1	T	C	5: 139,750,968 (GRCm39)	T810A		Het
Kalrn	A	G	16: 33,870,306 (GRCm39)		probably benign	Het
Kcnk6	T	C	7: 28,931,634 (GRCm39)	D92G	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd6	A	T	1: 52,748,348 (GRCm39)	N172K	probably damaging	Het
Mtcl1	G	T	17: 66,661,237 (GRCm39)	Q1225K	possibly damaging	Het
Nav2	C	T	7: 49,185,701 (GRCm39)	T948M	probably damaging	Het
Nfic	T	C	10: 81,256,419 (GRCm39)	K104E	probably damaging	Het
Nup58	G	A	14: 60,488,740 (GRCm39)		probably benign	Het
Nwd2	A	T	5: 63,965,241 (GRCm39)	K1608N	probably damaging	Het
Or10n1	T	A	9: 39,525,298 (GRCm39)	I145K	probably benign	Het
Phf21b	T	C	15: 84,688,968 (GRCm39)	D186G	probably damaging	Het
Poli	C	T	18: 70,661,829 (GRCm39)	C57Y	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,345,927 (GRCm39)	Y256C	probably benign	Het
Satb1	C	A	17: 52,089,726 (GRCm39)	E374*	probably null	Het
Scn4a	C	T	11: 106,236,262 (GRCm39)	E333K	probably benign	Het
Sec14l2	C	T	11: 4,053,661 (GRCm39)		probably benign	Het
Slain1	T	C	14: 103,923,261 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syne2	T	C	12: 75,977,352 (GRCm39)	S1266P	probably damaging	Het
Syne2	A	G	12: 76,080,496 (GRCm39)	E4810G	probably damaging	Het
Tbck	T	C	3: 132,448,841 (GRCm39)	I618T	probably damaging	Het
Tmem132d	A	T	5: 127,861,657 (GRCm39)	N821K	probably benign	Het
Trim28	T	A	7: 12,762,628 (GRCm39)	V381E	probably damaging	Het
Ttc1	T	C	11: 43,636,115 (GRCm39)	S43G	probably benign	Het
Ube2u	A	G	4: 100,338,852 (GRCm39)	E39G	possibly damaging	Het
Urb2	T	C	8: 124,757,665 (GRCm39)	V1124A	probably benign	Het
Usp13	A	G	3: 32,872,025 (GRCm39)		probably benign	Het
Vmn1r216	A	T	13: 23,283,631 (GRCm39)	S105C	probably damaging	Het
Yipf2	T	C	9: 21,501,412 (GRCm39)	T23A	probably damaging	Het
Zfp521	G	A	18: 13,978,148 (GRCm39)	T755M	probably damaging	Het
Zfp619	T	A	7: 39,187,183 (GRCm39)	M1071K	probably benign	Het
Zfp942	A	T	17: 22,148,066 (GRCm39)	C188S	probably benign	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	36,684,006 (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
R7164:Or1j21	UTSW	2	36,683,709 (GRCm39)	missense	probably benign	0.34
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'- TCTGCTTTGCTGAAGCTGTCCAG -3'
(R):5'- CCCATCAGTGTGAACACAGTCTCC -3'

Sequencing Primer
(F):5'- TGAAGCTGTCCAGCTCAGAC -3'
(R):5'- TGAACACAGTCTCCTGCTGAG -3'

Posted On

2013-04-11