Mutagenetix > Incidental Mutations

Incidental Mutation 'R0533:Arpp21'

49326

Institutional Source

Beutler Lab

Gene Symbol

Arpp21

Ensembl Gene

ENSMUSG00000032503

Gene Name

cyclic AMP-regulated phosphoprotein, 21

Synonyms

ARPP-21, 0710001E13Rik, Tarpp, D9Bwg1012e, R3hdm3

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112065091-112235938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112126505 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 522 (V522A)

Ref Sequence

ENSEMBL: ENSMUSP00000125684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035085] [ENSMUST00000070218] [ENSMUST00000111872] [ENSMUST00000159246] [ENSMUST00000159451] [ENSMUST00000162065] [ENSMUST00000162097] [ENSMUST00000164754]

Predicted Effect

probably benign
Transcript: ENSMUST00000035085
AA Change: V502A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: V502A

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	282	297	N/A	INTRINSIC
low complexity region	348	368	N/A	INTRINSIC
low complexity region	459	482	N/A	INTRINSIC
low complexity region	490	503	N/A	INTRINSIC
low complexity region	642	657	N/A	INTRINSIC
low complexity region	662	674	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070218
AA Change: V522A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: V522A

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	302	317	N/A	INTRINSIC
low complexity region	368	388	N/A	INTRINSIC
low complexity region	479	502	N/A	INTRINSIC
low complexity region	510	523	N/A	INTRINSIC
low complexity region	662	677	N/A	INTRINSIC
low complexity region	682	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111872
AA Change: V522A

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

SMART Domains

Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: V522A

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	302	317	N/A	INTRINSIC
low complexity region	368	388	N/A	INTRINSIC
low complexity region	479	502	N/A	INTRINSIC
low complexity region	510	523	N/A	INTRINSIC
low complexity region	662	677	N/A	INTRINSIC
low complexity region	682	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159246

SMART Domains

Protein: ENSMUSP00000123715
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	260	274	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159432

Predicted Effect

probably benign
Transcript: ENSMUST00000159451

SMART Domains

Protein: ENSMUSP00000125095
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	233	248	N/A	INTRINSIC
low complexity region	299	319	N/A	INTRINSIC
low complexity region	410	433	N/A	INTRINSIC
low complexity region	558	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162065
AA Change: V522A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: V522A

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
low complexity region	302	317	N/A	INTRINSIC
low complexity region	368	388	N/A	INTRINSIC
low complexity region	479	502	N/A	INTRINSIC
low complexity region	510	523	N/A	INTRINSIC
low complexity region	662	677	N/A	INTRINSIC
low complexity region	682	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162097

SMART Domains

Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
Pfam:SUZ	244	298	3.4e-15	PFAM
low complexity region	335	350	N/A	INTRINSIC
low complexity region	401	421	N/A	INTRINSIC
low complexity region	512	535	N/A	INTRINSIC
low complexity region	660	675	N/A	INTRINSIC
low complexity region	680	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164754

SMART Domains

Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
low complexity region	101	122	N/A	INTRINSIC
R3H	146	223	6.67e-16	SMART
Pfam:SUZ	244	298	3.4e-15	PFAM
low complexity region	335	350	N/A	INTRINSIC
low complexity region	401	421	N/A	INTRINSIC
low complexity region	512	535	N/A	INTRINSIC
low complexity region	660	675	N/A	INTRINSIC
low complexity region	680	692	N/A	INTRINSIC

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mice are viable and display normal brain anatomy and no obvious behavioral or morphological defects. However, in medium spiny neurons from mutant mice, the ability of both M1 and D2 receptor activation to modulate L-type calcium channel currents is enhanced by nearly 2-fold. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Arpp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Arpp21	APN	9	112176123	missense	probably damaging	1.00
IGL02369:Arpp21	APN	9	112119198	missense	probably benign
IGL02516:Arpp21	APN	9	112185661	missense	probably damaging	1.00
IGL02687:Arpp21	APN	9	112065815	nonsense	probably null
IGL02698:Arpp21	APN	9	112185744	utr 5 prime	probably benign
IGL02948:Arpp21	APN	9	112176200	missense	probably damaging	1.00
Noom	UTSW	9	112176251	intron	probably null
R0040:Arpp21	UTSW	9	112147409	splice site	probably benign
R0636:Arpp21	UTSW	9	112183498	missense	probably benign	0.30
R0696:Arpp21	UTSW	9	112183589	splice site	probably null
R0707:Arpp21	UTSW	9	112157756	missense	probably benign	0.25
R0970:Arpp21	UTSW	9	112136448	splice site	probably benign
R1300:Arpp21	UTSW	9	112143374	missense	probably damaging	1.00
R1416:Arpp21	UTSW	9	112179129	missense	probably damaging	1.00
R1713:Arpp21	UTSW	9	112067169	missense	probably damaging	1.00
R1803:Arpp21	UTSW	9	112127398	missense	possibly damaging	0.61
R1884:Arpp21	UTSW	9	112143527	missense	probably damaging	1.00
R1918:Arpp21	UTSW	9	112119178	splice site	probably benign
R1992:Arpp21	UTSW	9	112157793	missense	probably damaging	0.97
R2121:Arpp21	UTSW	9	112136670	missense	probably damaging	1.00
R2932:Arpp21	UTSW	9	112179105	missense	probably damaging	1.00
R3729:Arpp21	UTSW	9	112065979	missense	possibly damaging	0.76
R3964:Arpp21	UTSW	9	112065776	missense	probably damaging	1.00
R4130:Arpp21	UTSW	9	112155308	intron	probably benign
R4131:Arpp21	UTSW	9	112155308	intron	probably benign
R4514:Arpp21	UTSW	9	112177677	missense	probably damaging	0.99
R4789:Arpp21	UTSW	9	112067292	missense	probably benign	0.02
R5138:Arpp21	UTSW	9	112179084	missense	probably damaging	1.00
R5218:Arpp21	UTSW	9	112143431	missense	probably damaging	1.00
R5371:Arpp21	UTSW	9	112065932	missense	probably benign	0.01
R5373:Arpp21	UTSW	9	112067268	missense	probably benign
R5407:Arpp21	UTSW	9	112116753	intron	probably benign
R5528:Arpp21	UTSW	9	112149353	missense	probably benign	0.04
R5957:Arpp21	UTSW	9	112185686	missense	probably benign	0.01
R5992:Arpp21	UTSW	9	112143485	nonsense	probably null
R6166:Arpp21	UTSW	9	112119198	missense	probably benign
R6294:Arpp21	UTSW	9	112127452	missense	probably damaging	0.99
R6632:Arpp21	UTSW	9	112127356	nonsense	probably null
R6952:Arpp21	UTSW	9	112126482	missense	probably damaging	0.98
R7083:Arpp21	UTSW	9	112183544	missense	probably benign	0.22
R7089:Arpp21	UTSW	9	112126446	missense	probably benign	0.23
R7335:Arpp21	UTSW	9	112176251	intron	probably null
R7813:Arpp21	UTSW	9	112179065	missense	probably damaging	0.97
X0013:Arpp21	UTSW	9	112179160	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGATGGATGCACACATGGATG -3'
(R):5'- GTCTGTAAGTTCAGAGCACCCAACC -3'

Sequencing Primer
(F):5'- tgagcacatctgcttgcc -3'
(R):5'- GACACTTCAAGGCAGGCTTTC -3'

Posted On

2013-06-12