Mutagenetix > Incidental Mutation

Incidental Mutation 'R5191:Or2a54'

398140

Institutional Source

Beutler Lab

Gene Symbol

Or2a54

Ensembl Gene

ENSMUSG00000094669

Gene Name

olfactory receptor family 2 subfamily A member 54

Synonyms

GA_x6K02T2P3E9-4442577-4441645, Olfr441, MOR261-3

MMRRC Submission

043263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43092678-43093610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43092800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 41 (N41K)

Ref Sequence

ENSEMBL: ENSMUSP00000150572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095954] [ENSMUST00000204092] [ENSMUST00000213649]

AlphaFold

Q8VFS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095954
AA Change: N41K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: N41K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204092
AA Change: N41K

SMART Domains

Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: N41K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213649
AA Change: N41K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8042

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	G	15: 101,034,946 (GRCm39)	E235G	probably damaging	Het
Adam26b	T	C	8: 43,973,028 (GRCm39)	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,843 (GRCm39)	R1407G	probably benign	Het
Aknad1	T	C	3: 108,659,306 (GRCm39)	S107P	probably benign	Het
Aknad1	G	A	3: 108,659,867 (GRCm39)	V294I	probably benign	Het
Arfgef2	A	G	2: 166,718,431 (GRCm39)	T1407A	probably damaging	Het
Atp5f1a	C	T	18: 77,867,929 (GRCm39)	P318S	probably damaging	Het
Atp9a	C	T	2: 168,503,983 (GRCm39)	V494M	possibly damaging	Het
Ccdc69	A	T	11: 54,943,719 (GRCm39)		probably null	Het
Crh	T	C	3: 19,748,093 (GRCm39)	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,791,035 (GRCm39)	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,042,955 (GRCm39)	A862T	probably benign	Het
Dact3	T	G	7: 16,609,375 (GRCm39)	V9G	probably damaging	Het
Dnaaf9	A	T	2: 130,579,323 (GRCm39)	I638N	possibly damaging	Het
Dnah8	A	G	17: 30,965,739 (GRCm39)	E2357G	probably damaging	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Etl4	G	T	2: 20,344,810 (GRCm39)	S38I	probably damaging	Het
Fyb2	G	T	4: 104,852,994 (GRCm39)	C558F	possibly damaging	Het
Galnt3	T	C	2: 65,924,050 (GRCm39)	E406G	probably damaging	Het
Golga3	T	A	5: 110,332,173 (GRCm39)		probably benign	Het
Gpr179	T	A	11: 97,228,975 (GRCm39)	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,647,024 (GRCm39)	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,314,964 (GRCm39)	V141E	probably damaging	Het
Kcnj2	C	T	11: 110,963,297 (GRCm39)	Q230*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Limch1	T	C	5: 67,184,904 (GRCm39)	L631P	probably damaging	Het
Lpin1	T	C	12: 16,630,829 (GRCm39)	N23S	possibly damaging	Het
Macf1	A	G	4: 123,366,755 (GRCm39)	S1104P	probably benign	Het
Man2b1	A	G	8: 85,811,088 (GRCm39)	D73G	probably damaging	Het
Marf1	A	G	16: 13,963,942 (GRCm39)	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,298,466 (GRCm39)	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,846,668 (GRCm39)	E304G	probably damaging	Het
Mst1r	G	A	9: 107,788,750 (GRCm39)	R423H	probably damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Muc5b	A	G	7: 141,412,276 (GRCm39)	T1741A	unknown	Het
Myo1g	C	T	11: 6,465,105 (GRCm39)	A447T	probably benign	Het
Nr1h2	C	A	7: 44,199,840 (GRCm39)	A360S	probably damaging	Het
Nufip1	A	G	14: 76,349,429 (GRCm39)	K154E	probably damaging	Het
Or12k8	T	G	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or7e166	G	A	9: 19,624,630 (GRCm39)	C169Y	probably damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Plec	T	C	15: 76,059,365 (GRCm39)	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sarm1	G	A	11: 78,387,945 (GRCm39)	Q114*	probably null	Het
Sec31a	T	C	5: 100,553,370 (GRCm39)	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a2	G	T	1: 40,783,053 (GRCm39)	R439L	probably damaging	Het
Sptb	C	A	12: 76,659,608 (GRCm39)	E1097D	probably benign	Het
Stk38	A	C	17: 29,193,344 (GRCm39)	C362G	probably benign	Het
Stmn2	A	T	3: 8,610,635 (GRCm39)	M40L	probably benign	Het
Sytl2	A	T	7: 90,024,860 (GRCm39)	T283S	probably damaging	Het
Tcf4	A	G	18: 69,775,954 (GRCm39)	S48G	probably damaging	Het
Tlr4	A	T	4: 66,759,616 (GRCm39)	H803L	probably damaging	Het
Ttn	C	T	2: 76,709,432 (GRCm39)		probably benign	Het
Tyk2	G	T	9: 21,018,793 (GRCm39)	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,203,755 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,447 (GRCm39)	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,743,582 (GRCm39)	P451T	possibly damaging	Het
Zeb2	T	C	2: 44,892,612 (GRCm39)	S146G	probably benign	Het
Zfp236	T	A	18: 82,639,548 (GRCm39)	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,119,022 (GRCm39)	V174A	probably damaging	Het
Zswim1	G	A	2: 164,667,939 (GRCm39)	S397N	probably benign	Het

Other mutations in Or2a54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0470:Or2a54	UTSW	6	43,093,558 (GRCm39)	missense	probably null	0.04
R0528:Or2a54	UTSW	6	43,093,150 (GRCm39)	missense	possibly damaging	0.56
R1441:Or2a54	UTSW	6	43,092,880 (GRCm39)	missense	probably benign	0.02
R2048:Or2a54	UTSW	6	43,093,312 (GRCm39)	missense	probably benign	0.00
R2191:Or2a54	UTSW	6	43,092,999 (GRCm39)	missense	probably benign	0.13
R4438:Or2a54	UTSW	6	43,093,221 (GRCm39)	missense	probably benign	0.09
R4465:Or2a54	UTSW	6	43,092,852 (GRCm39)	missense	probably damaging	0.97
R6353:Or2a54	UTSW	6	43,093,070 (GRCm39)	nonsense	probably null
R6719:Or2a54	UTSW	6	43,092,907 (GRCm39)	missense	probably damaging	1.00
R8297:Or2a54	UTSW	6	43,093,440 (GRCm39)	missense	probably benign	0.39
R8850:Or2a54	UTSW	6	43,092,905 (GRCm39)	missense	possibly damaging	0.67
Z1177:Or2a54	UTSW	6	43,093,169 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCACAGCTTTGACCTTTCAGTG -3'
(R):5'- CAGCTCATGATGACAGTGTAGTG -3'

Sequencing Primer
(F):5'- ACAGCTTTGACCTTTCAGTGTGAAC -3'
(R):5'- ATCAGGCACTCTATGGAAGC -3'

Posted On

2016-07-06