Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Arpp21'

203301

Institutional Source

Beutler Lab

Gene Symbol

Arpp21

Ensembl Gene

ENSMUSG00000032503

Gene Name

cyclic AMP-regulated phosphoprotein, 21

Synonyms

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

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111894159-112065006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111956466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 471 (T471A)

Ref Sequence

ENSEMBL: ENSMUSP00000107503 (fasta)

Gene Model

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

AlphaFold

Q9DCB4

Predicted Effect

probably benign
Transcript: ENSMUST00000035085
AA Change: T451A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: T451A

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: T471A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: T471A

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

possibly damaging
Transcript: ENSMUST00000111872
AA Change: T471A

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: T471A

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
AA Change: T402A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125095
Gene: ENSMUSG00000032503
AA Change: T402A

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: T471A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: T471A

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
AA Change: T504A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: T504A

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
AA Change: T504A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: T504A

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably damaging	Het

Other mutations in Arpp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Arpp21	APN	9	112,005,191 (GRCm39)	missense	probably damaging	1.00
IGL02369:Arpp21	APN	9	111,948,266 (GRCm39)	missense	probably benign
IGL02516:Arpp21	APN	9	112,014,729 (GRCm39)	missense	probably damaging	1.00
IGL02687:Arpp21	APN	9	111,894,883 (GRCm39)	nonsense	probably null
IGL02698:Arpp21	APN	9	112,014,812 (GRCm39)	utr 5 prime	probably benign
IGL02948:Arpp21	APN	9	112,005,268 (GRCm39)	missense	probably damaging	1.00
Noom	UTSW	9	112,005,319 (GRCm39)	splice site	probably null
R0040:Arpp21	UTSW	9	111,976,477 (GRCm39)	splice site	probably benign
R0533:Arpp21	UTSW	9	111,955,573 (GRCm39)	missense	probably benign	0.36
R0636:Arpp21	UTSW	9	112,012,566 (GRCm39)	missense	probably benign	0.30
R0696:Arpp21	UTSW	9	112,012,657 (GRCm39)	splice site	probably null
R0707:Arpp21	UTSW	9	111,986,824 (GRCm39)	missense	probably benign	0.25
R0970:Arpp21	UTSW	9	111,965,516 (GRCm39)	splice site	probably benign
R1300:Arpp21	UTSW	9	111,972,442 (GRCm39)	missense	probably damaging	1.00
R1416:Arpp21	UTSW	9	112,008,197 (GRCm39)	missense	probably damaging	1.00
R1713:Arpp21	UTSW	9	111,896,237 (GRCm39)	missense	probably damaging	1.00
R1884:Arpp21	UTSW	9	111,972,595 (GRCm39)	missense	probably damaging	1.00
R1918:Arpp21	UTSW	9	111,948,246 (GRCm39)	splice site	probably benign
R1992:Arpp21	UTSW	9	111,986,861 (GRCm39)	missense	probably damaging	0.97
R2121:Arpp21	UTSW	9	111,965,738 (GRCm39)	missense	probably damaging	1.00
R2932:Arpp21	UTSW	9	112,008,173 (GRCm39)	missense	probably damaging	1.00
R3729:Arpp21	UTSW	9	111,895,047 (GRCm39)	missense	possibly damaging	0.76
R3964:Arpp21	UTSW	9	111,894,844 (GRCm39)	missense	probably damaging	1.00
R4130:Arpp21	UTSW	9	111,984,376 (GRCm39)	intron	probably benign
R4131:Arpp21	UTSW	9	111,984,376 (GRCm39)	intron	probably benign
R4514:Arpp21	UTSW	9	112,006,745 (GRCm39)	missense	probably damaging	0.99
R4789:Arpp21	UTSW	9	111,896,360 (GRCm39)	missense	probably benign	0.02
R5138:Arpp21	UTSW	9	112,008,152 (GRCm39)	missense	probably damaging	1.00
R5218:Arpp21	UTSW	9	111,972,499 (GRCm39)	missense	probably damaging	1.00
R5371:Arpp21	UTSW	9	111,895,000 (GRCm39)	missense	probably benign	0.01
R5373:Arpp21	UTSW	9	111,896,336 (GRCm39)	missense	probably benign
R5407:Arpp21	UTSW	9	111,945,821 (GRCm39)	intron	probably benign
R5528:Arpp21	UTSW	9	111,978,421 (GRCm39)	missense	probably benign	0.04
R5957:Arpp21	UTSW	9	112,014,754 (GRCm39)	missense	probably benign	0.01
R5992:Arpp21	UTSW	9	111,972,553 (GRCm39)	nonsense	probably null
R6166:Arpp21	UTSW	9	111,948,266 (GRCm39)	missense	probably benign
R6294:Arpp21	UTSW	9	111,956,520 (GRCm39)	missense	probably damaging	0.99
R6632:Arpp21	UTSW	9	111,956,424 (GRCm39)	nonsense	probably null
R6952:Arpp21	UTSW	9	111,955,550 (GRCm39)	missense	probably damaging	0.98
R7083:Arpp21	UTSW	9	112,012,612 (GRCm39)	missense	probably benign	0.22
R7089:Arpp21	UTSW	9	111,955,514 (GRCm39)	missense	probably benign	0.23
R7335:Arpp21	UTSW	9	112,005,319 (GRCm39)	splice site	probably null
R7813:Arpp21	UTSW	9	112,008,133 (GRCm39)	missense	probably damaging	0.97
R8090:Arpp21	UTSW	9	111,945,769 (GRCm39)	missense	unknown
R8204:Arpp21	UTSW	9	111,965,638 (GRCm39)	missense	noncoding transcript
R8397:Arpp21	UTSW	9	111,978,440 (GRCm39)	missense	possibly damaging	0.79
R8853:Arpp21	UTSW	9	111,976,516 (GRCm39)	missense	probably damaging	0.99
R9014:Arpp21	UTSW	9	112,006,796 (GRCm39)	missense	probably damaging	0.99
R9053:Arpp21	UTSW	9	111,984,583 (GRCm39)	missense	possibly damaging	0.51
R9183:Arpp21	UTSW	9	111,895,066 (GRCm39)	missense	probably benign	0.10
R9258:Arpp21	UTSW	9	111,953,956 (GRCm39)	missense	probably benign	0.17
R9324:Arpp21	UTSW	9	111,986,765 (GRCm39)	missense	probably damaging	1.00
R9344:Arpp21	UTSW	9	112,014,720 (GRCm39)	missense	possibly damaging	0.67
R9461:Arpp21	UTSW	9	111,965,704 (GRCm39)	missense	probably damaging	0.99
R9562:Arpp21	UTSW	9	111,956,354 (GRCm39)	missense	possibly damaging	0.94
X0013:Arpp21	UTSW	9	112,008,228 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATAGATTGCTGACCTGAACC -3'
(R):5'- GAACACATGTGACCTTGGAGC -3'

Sequencing Primer
(F):5'- AGATTGCTGACCTGAACCCTATTG -3'
(R):5'- AGGGTCCCTGTCTTGAATTCC -3'

Posted On

2014-06-23