Mutagenetix > Incidental Mutations

Incidental Mutation 'R7335:Arpp21'

591012

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112065091-112235938 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 112176251 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035085] [ENSMUST00000070218] [ENSMUST00000111872] [ENSMUST00000159055] [ENSMUST00000159246] [ENSMUST00000159451] [ENSMUST00000160478] [ENSMUST00000161097] [ENSMUST00000161412] [ENSMUST00000162065] [ENSMUST00000162097] [ENSMUST00000162796] [ENSMUST00000164754] [ENSMUST00000172380] [ENSMUST00000178410]

Predicted Effect

probably null
Transcript: ENSMUST00000035085

SMART Domains

Protein: ENSMUSP00000035085
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	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 null
Transcript: ENSMUST00000070218

SMART Domains

Protein: ENSMUSP00000069264
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	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 null
Transcript: ENSMUST00000111872

SMART Domains

Protein: ENSMUSP00000107503
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	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 null
Transcript: ENSMUST00000159055

SMART Domains

Protein: ENSMUSP00000123883
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

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

probably null
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: ENSMUST00000160478

SMART Domains

Protein: ENSMUSP00000124550
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161097

SMART Domains

Protein: ENSMUSP00000123937
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161412

SMART Domains

Protein: ENSMUSP00000125282
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

Predicted Effect

probably null
Transcript: ENSMUST00000162065

SMART Domains

Protein: ENSMUSP00000125684
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	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 null
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: ENSMUST00000162796

SMART Domains

Protein: ENSMUSP00000124670
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

Predicted Effect

probably null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000172380

SMART Domains

Protein: ENSMUSP00000130558
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178410

SMART Domains

Protein: ENSMUSP00000136769
Gene: ENSMUSG00000032503

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,602,266	S35G	probably benign	Het
Adcy6	G	T	15: 98,603,876	Q286K	probably benign	Het
Agrn	A	G	4: 156,176,532	S676P	probably damaging	Het
Arntl2	A	G	6: 146,809,719	M74V	probably benign	Het
C1rb	A	T	6: 124,575,279	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,422,603	V629A		Het
Cacna1i	T	G	15: 80,375,575	F1287C	probably damaging	Het
Catspere2	A	G	1: 178,098,508	I247V	probably benign	Het
Cd101	C	G	3: 101,018,729	A229P	probably benign	Het
Cdh23	T	C	10: 60,305,116	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,034,353	K557N	possibly damaging	Het
Col6a4	G	A	9: 106,076,892	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,640,007	C164*	probably null	Het
Dopey2	A	G	16: 93,747,508	E179G	probably benign	Het
Duoxa2	A	T	2: 122,301,340	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,736,970	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,983,118	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,515,233	I121T	probably benign	Het
Herc3	T	A	6: 58,876,788	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,392,157	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,652,864	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,520,337	T234A	probably benign	Het
Hyal1	G	T	9: 107,579,160	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,708,951		probably benign	Het
Iqcc	T	A	4: 129,616,708	Q338L	not run	Het
Kdm5b	T	C	1: 134,560,439	V34A	probably damaging	Het
Lgals4	T	C	7: 28,841,146	F225L	probably benign	Het
Lmtk3	C	T	7: 45,795,157	T1088I	unknown	Het
Magel2	A	T	7: 62,380,776	S1143C	unknown	Het
Mapk4	A	T	18: 73,937,267	L185Q	possibly damaging	Het
Ncam1	A	G	9: 49,506,911	S1030P		Het
Nynrin	A	T	14: 55,863,914	T347S	probably benign	Het
Pak7	T	C	2: 136,098,299	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,474,336	E207G	probably damaging	Het
Pde6h	T	C	6: 136,963,213	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,458,814		probably null	Het
Prkd3	A	G	17: 78,954,566	F774S	probably damaging	Het
Prox1	T	A	1: 190,161,845	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,886,019	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,440,782	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,031,998	S1678G	probably benign	Het
Sez6l	G	T	5: 112,576,812		probably null	Het
Sgcg	T	A	14: 61,240,367	Y91F	probably damaging	Het
Skint2	C	T	4: 112,624,218	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,263,375	D99E	probably benign	Het
Slco3a1	A	G	7: 74,284,342	I694T	probably damaging	Het
Smurf2	A	T	11: 106,846,085	I305N	possibly damaging	Het
Soga1	T	C	2: 157,031,005	Q862R	possibly damaging	Het
Stac3	T	A	10: 127,504,900	V178D	probably benign	Het
Suclg2	T	A	6: 95,566,460	N330I	probably damaging	Het
Suclg2	G	A	6: 95,566,463	A329V	probably damaging	Het
Tas2r118	C	T	6: 23,969,750	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,245,165	E327D	probably benign	Het
Trit1	T	C	4: 123,016,779	M57T	possibly damaging	Het
Vav1	G	A	17: 57,296,720	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Zfp735	T	A	11: 73,711,553	V441E	possibly damaging	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	splice site	probably null
R0040:Arpp21	UTSW	9	112147409	splice site	probably benign
R0533:Arpp21	UTSW	9	112126505	missense	probably benign	0.36
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
R7813:Arpp21	UTSW	9	112179065	missense	probably damaging	0.97
R8090:Arpp21	UTSW	9	112116701	missense	unknown
R8204:Arpp21	UTSW	9	112136570	missense	noncoding transcript
R8397:Arpp21	UTSW	9	112149372	missense	possibly damaging	0.79
X0013:Arpp21	UTSW	9	112179160	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGACTTACATCCTGGTGC -3'
(R):5'- TCCTGAACTAACCCAGAACACTTTG -3'

Sequencing Primer
(F):5'- GACTTACATCCTGGTGCTGCTG -3'
(R):5'- TGAGAAACAGCAATGCCTACTG -3'

Posted On

2019-11-04