Mutagenetix > Incidental Mutation

Incidental Mutation 'R1551:Or5ac21'

169957

Institutional Source

Beutler Lab

Gene Symbol

Or5ac21

Ensembl Gene

ENSMUSG00000068182

Gene Name

olfactory receptor family 5 subfamily AC member 21

Synonyms

GA_x54KRFPKG5P-55517445-55518365, Olfr203, MOR182-5

MMRRC Submission

039590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59123518-59124438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59123766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 84 (N84K)

Ref Sequence

ENSEMBL: ENSMUSP00000086719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000201687] [ENSMUST00000215893]

AlphaFold

L7N205

Predicted Effect

probably benign
Transcript: ENSMUST00000089305
AA Change: N84K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: N84K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1e-46	PFAM
Pfam:7tm_1	41	290	7.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201687
AA Change: N83K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: N83K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	3.4e-46	PFAM
Pfam:7tm_1	40	289	1.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215893
AA Change: N83K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 83.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,101 (GRCm39)	I1534M	probably benign	Het
Acad11	G	A	9: 104,003,785 (GRCm39)	A626T	probably damaging	Het
Akap9	T	A	5: 4,119,174 (GRCm39)	N3560K	probably benign	Het
Aldh3a2	C	T	11: 61,144,470 (GRCm39)	V363I	probably benign	Het
Anks1b	A	G	10: 89,912,843 (GRCm39)	T289A	probably benign	Het
Atp11a	A	G	8: 12,862,340 (GRCm39)	N64S	probably damaging	Het
Atp11c	T	C	X: 59,282,072 (GRCm39)		probably null	Het
Cd101	T	C	3: 100,919,329 (GRCm39)	H591R	probably damaging	Het
Cd36	C	T	5: 18,002,120 (GRCm39)	V294I	probably benign	Het
Cfap47	C	A	X: 78,532,251 (GRCm39)	L842F	probably damaging	Het
Cgref1	T	C	5: 31,090,929 (GRCm39)	E295G	probably benign	Het
Cit	A	G	5: 116,083,901 (GRCm39)	M787V	probably benign	Het
Clcn6	G	A	4: 148,097,235 (GRCm39)	P611S	possibly damaging	Het
Clec12a	A	C	6: 129,327,384 (GRCm39)	M1L	probably damaging	Het
Cmtm6	C	T	9: 114,575,573 (GRCm39)	R161W	probably damaging	Het
Colec10	G	T	15: 54,325,658 (GRCm39)	V163L	probably damaging	Het
Coq8b	A	G	7: 26,956,907 (GRCm39)	Y520C	probably damaging	Het
Ctsll3	C	A	13: 60,948,821 (GRCm39)	E45*	probably null	Het
Dsg3	A	G	18: 20,669,975 (GRCm39)	E663G	possibly damaging	Het
Dst	G	A	1: 34,231,293 (GRCm39)	R2962H	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fbxo36	T	C	1: 84,858,835 (GRCm39)	I40T	probably damaging	Het
Fgd2	G	A	17: 29,597,383 (GRCm39)	V568M	probably damaging	Het
Fmn1	T	C	2: 113,356,207 (GRCm39)	Y883H	possibly damaging	Het
Fpr-rs4	A	T	17: 18,242,589 (GRCm39)	T199S	possibly damaging	Het
Gm12789	A	G	4: 101,846,131 (GRCm39)	K131E	probably benign	Het
Gm17641	C	A	3: 68,777,448 (GRCm39)		silent	Het
Gm6665	G	T	18: 31,953,340 (GRCm39)	R43S	probably damaging	Het
Gzmc	T	A	14: 56,470,203 (GRCm39)	H98L	probably damaging	Het
Hecw1	T	A	13: 14,491,528 (GRCm39)	E75V	probably damaging	Het
Herc2	G	T	7: 55,796,417 (GRCm39)	V1930L	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htr6	A	T	4: 138,801,776 (GRCm39)	C99*	probably null	Het
Lgals2	C	T	15: 78,736,511 (GRCm39)	M16I	probably benign	Het
Lrrc8c	A	G	5: 105,756,090 (GRCm39)	N622D	probably damaging	Het
Myo15a	A	T	11: 60,383,791 (GRCm39)	I1613F	possibly damaging	Het
Oacyl	C	T	18: 65,875,280 (GRCm39)	R455C	probably benign	Het
Or13c25	A	T	4: 52,911,397 (GRCm39)	Y132*	probably null	Het
Or5bh3	T	C	X: 49,098,872 (GRCm39)	T81A	possibly damaging	Het
Orm3	A	G	4: 63,275,146 (GRCm39)		probably null	Het
Phf2	G	C	13: 48,985,579 (GRCm39)	T67S	unknown	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pigt	T	C	2: 164,349,323 (GRCm39)	V542A	probably damaging	Het
Pnpla7	T	C	2: 24,937,720 (GRCm39)	F992L	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Pramel11	A	G	4: 143,622,263 (GRCm39)	M364T	probably benign	Het
Prmt7	A	G	8: 106,964,014 (GRCm39)	T303A	probably benign	Het
Prpf4b	A	T	13: 35,078,426 (GRCm39)	I679F	possibly damaging	Het
Psd4	T	A	2: 24,293,292 (GRCm39)	M719K	probably benign	Het
Ranbp9	A	T	13: 43,578,593 (GRCm39)	M160K	probably benign	Het
Rfc1	A	G	5: 65,434,706 (GRCm39)	Y687H	probably damaging	Het
Rimbp2	T	C	5: 128,883,423 (GRCm39)	K119R	probably damaging	Het
Rnf113a1	T	C	X: 36,455,046 (GRCm39)	M1T	probably null	Het
Rnf40	A	C	7: 127,195,506 (GRCm39)	K511Q	possibly damaging	Het
Ryr2	T	A	13: 11,800,029 (GRCm39)		probably null	Het
Scrib	A	T	15: 75,937,011 (GRCm39)	V365E	probably damaging	Het
Slc6a17	A	G	3: 107,379,443 (GRCm39)	V575A	possibly damaging	Het
Spta1	A	G	1: 174,067,732 (GRCm39)	N2053S	possibly damaging	Het
Ssbp2	G	A	13: 91,790,511 (GRCm39)		probably null	Het
Stab1	G	T	14: 30,882,456 (GRCm39)	N460K	probably benign	Het
Tbc1d9	T	A	8: 83,992,787 (GRCm39)	C964S	probably benign	Het
Tmed11	A	G	5: 108,927,680 (GRCm39)		probably null	Het
Tmem191	C	A	16: 17,095,984 (GRCm39)	R285S	probably damaging	Het
Tpr	T	C	1: 150,312,552 (GRCm39)	S1917P	probably benign	Het
Vill	A	T	9: 118,892,440 (GRCm39)	H357L	probably benign	Het
Vmn1r229	A	G	17: 21,035,051 (GRCm39)	T99A	probably benign	Het
Vmn2r14	A	G	5: 109,369,283 (GRCm39)	S97P	probably damaging	Het
Wasf2	G	T	4: 132,917,483 (GRCm39)	R194L	unknown	Het

Other mutations in Or5ac21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Or5ac21	APN	16	59,123,996 (GRCm39)	missense	probably damaging	0.99
IGL02294:Or5ac21	APN	16	59,123,975 (GRCm39)	missense	probably damaging	1.00
IGL02412:Or5ac21	APN	16	59,123,555 (GRCm39)	missense	probably damaging	1.00
IGL02899:Or5ac21	APN	16	59,123,649 (GRCm39)	missense	probably damaging	1.00
R0792:Or5ac21	UTSW	16	59,124,352 (GRCm39)	missense	probably damaging	0.99
R1701:Or5ac21	UTSW	16	59,123,651 (GRCm39)	missense	probably benign	0.23
R1975:Or5ac21	UTSW	16	59,124,091 (GRCm39)	missense	probably damaging	0.98
R2272:Or5ac21	UTSW	16	59,123,807 (GRCm39)	missense	possibly damaging	0.55
R5199:Or5ac21	UTSW	16	59,124,103 (GRCm39)	missense	probably benign
R5843:Or5ac21	UTSW	16	59,123,724 (GRCm39)	missense	probably damaging	1.00
R5928:Or5ac21	UTSW	16	59,123,521 (GRCm39)	missense	probably damaging	1.00
R6708:Or5ac21	UTSW	16	59,124,416 (GRCm39)	missense	probably damaging	1.00
R6747:Or5ac21	UTSW	16	59,124,004 (GRCm39)	missense	probably benign	0.03
R6894:Or5ac21	UTSW	16	59,124,142 (GRCm39)	missense	probably damaging	0.98
R7324:Or5ac21	UTSW	16	59,123,611 (GRCm39)	missense	probably benign
R7380:Or5ac21	UTSW	16	59,124,391 (GRCm39)	missense	probably damaging	1.00
R7612:Or5ac21	UTSW	16	59,123,990 (GRCm39)	missense	probably damaging	1.00
R7775:Or5ac21	UTSW	16	59,123,614 (GRCm39)	missense	probably damaging	1.00
R8010:Or5ac21	UTSW	16	59,123,867 (GRCm39)	missense	probably damaging	1.00
R8408:Or5ac21	UTSW	16	59,124,418 (GRCm39)	nonsense	probably null
R8424:Or5ac21	UTSW	16	59,123,772 (GRCm39)	missense	possibly damaging	0.60
R8746:Or5ac21	UTSW	16	59,123,973 (GRCm39)	missense	probably benign	0.03
Z1176:Or5ac21	UTSW	16	59,123,532 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAAGTTCCCATGTTCTTGGTGTTC -3'
(R):5'- AGGTAACAGCTTGTATCACAGCAGC -3'

Sequencing Primer
(F):5'- GGTGTTCTTCTTCATCTATGTCAC -3'
(R):5'- TATGAGCCACTTATCAGGCAAG -3'

Posted On

2014-04-13