Mutagenetix > Incidental Mutation

Incidental Mutation 'R2272:Or5ac21'

242601

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

040272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59123518-59124438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59123807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 98 (M98R)

Ref Sequence

ENSEMBL: ENSMUSP00000086719 (fasta)

Gene Model

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

AlphaFold

L7N205

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089305
AA Change: M98R

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: M98R

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

possibly damaging
Transcript: ENSMUST00000201687
AA Change: M97R

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: M97R

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

possibly damaging
Transcript: ENSMUST00000215893
AA Change: M97R

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Ago1	C	A	4: 126,347,443 (GRCm39)	M435I	probably benign	Het
Apol7b	G	A	15: 77,307,910 (GRCm39)	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atg2b	C	T	12: 105,604,267 (GRCm39)	V1545I	probably benign	Het
Atp4a	C	A	7: 30,414,925 (GRCm39)	S238*	probably null	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Brinp3	A	G	1: 146,777,142 (GRCm39)	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnah10	A	G	5: 124,808,530 (GRCm39)	N195S	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hydin	A	T	8: 111,035,764 (GRCm39)	I152L	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnq3	T	A	15: 65,900,529 (GRCm39)	D242V	probably damaging	Het
Klhl1	T	C	14: 96,755,344 (GRCm39)	D137G	probably benign	Het
Lama5	T	C	2: 179,820,396 (GRCm39)	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,022,399 (GRCm39)	L254S	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matn4	A	T	2: 164,239,162 (GRCm39)	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865 (GRCm39)	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,381,774 (GRCm39)	H3612R	probably null	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Myo7b	C	T	18: 32,110,096 (GRCm39)	S1122N	probably benign	Het
Myo9a	T	A	9: 59,722,584 (GRCm39)	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Neil1	A	G	9: 57,054,069 (GRCm39)	S84P	probably damaging	Het
Nfix	A	G	8: 85,453,804 (GRCm39)	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,342,222 (GRCm39)	D474E	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pcnx1	T	C	12: 82,042,088 (GRCm39)	V2240A	probably benign	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Prss54	C	T	8: 96,297,735 (GRCm39)	W45*	probably null	Het
Psg29	A	T	7: 16,944,621 (GRCm39)	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Serpinb9c	C	T	13: 33,338,524 (GRCm39)	G125E	probably damaging	Het
Skint4	A	G	4: 111,977,065 (GRCm39)	T152A	probably benign	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
Ttn	T	A	2: 76,594,864 (GRCm39)	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,214,114 (GRCm39)	V510A	possibly damaging	Het
Usf1	T	C	1: 171,245,628 (GRCm39)	L291P	possibly damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,359,616 (GRCm39)	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,672,228 (GRCm39)	Q163L	probably damaging	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
R1551:Or5ac21	UTSW	16	59,123,766 (GRCm39)	missense	probably benign	0.03
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
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'- GCTGCAAGTTCCCATGTTCTTG -3'
(R):5'- GACCTACATGAATAAGTGGATGCAG -3'

Sequencing Primer
(F):5'- TATGTCACTACCATGGTGGGCAAC -3'
(R):5'- GCAGAAAACCGATTATATATGAGCC -3'

Posted On

2014-10-16