Incidental Mutation 'R3964:Arpp21'
ID 312262
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 040933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3964 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 111894844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 805 (V805L)
Ref Sequence ENSEMBL: ENSMUSP00000125862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035085] [ENSMUST00000070218] [ENSMUST00000111872] [ENSMUST00000159246] [ENSMUST00000162065] [ENSMUST00000162097] [ENSMUST00000164754]
AlphaFold Q9DCB4
Predicted Effect probably damaging
Transcript: ENSMUST00000035085
AA Change: V787L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: V787L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000070218
AA Change: V807L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: V807L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000111872
AA Change: V807L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: V807L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Predicted Effect probably damaging
Transcript: ENSMUST00000162065
AA Change: V807L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: V807L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000162097
AA Change: V805L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: V805L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000164754
AA Change: V805L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: V805L

DomainStartEndE-ValueType
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 0.1090 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C A 12: 81,607,583 (GRCm39) A60S possibly damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Cdh18 A T 15: 23,474,187 (GRCm39) T686S probably benign Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cttnbp2nl T C 3: 104,913,321 (GRCm39) K188E probably damaging Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Dhx57 T A 17: 80,572,541 (GRCm39) K711* probably null Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Gadl1 T C 9: 115,794,676 (GRCm39) S284P probably damaging Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsdmc2 A G 15: 63,721,683 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,449,320 (GRCm39) T110A probably benign Het
Il23r G A 6: 67,443,281 (GRCm39) T274I probably benign Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Lrp1b A G 2: 41,202,482 (GRCm39) probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Mrs2 A G 13: 25,185,746 (GRCm39) I142T possibly damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Muc5b A T 7: 141,420,705 (GRCm39) I4191F possibly damaging Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Nmi T C 2: 51,846,081 (GRCm39) E67G possibly damaging Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1j4 A G 2: 36,740,729 (GRCm39) T224A probably benign Het
Or8b1b T C 9: 38,375,979 (GRCm39) I214T probably benign Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pcdhga12 A T 18: 37,900,254 (GRCm39) Q362L probably benign Het
Peak1 C T 9: 56,167,263 (GRCm39) E222K probably damaging Het
Pik3r1 T C 13: 101,825,193 (GRCm39) E458G possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Plxdc2 T A 2: 16,665,651 (GRCm39) F284I probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppfia4 A T 1: 134,250,754 (GRCm39) D478E probably benign Het
Ptprd A G 4: 75,978,073 (GRCm39) probably benign Het
Ptprj A G 2: 90,298,785 (GRCm39) I315T probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Rnf13 G A 3: 57,676,533 (GRCm39) G63S probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shld2 T A 14: 33,981,644 (GRCm39) Q498L probably damaging Het
Slc50a1 T C 3: 89,176,093 (GRCm39) I151V probably benign Het
Snx27 T A 3: 94,438,613 (GRCm39) R207S probably damaging Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Tbc1d9b A G 11: 50,059,523 (GRCm39) E975G possibly damaging Het
Tbccd1 A G 16: 22,660,523 (GRCm39) S98P probably damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Usp19 T A 9: 108,375,228 (GRCm39) V818E probably damaging Het
Wdr38 A G 2: 38,889,362 (GRCm39) Y51C probably damaging Het
Zfp456 T C 13: 67,514,900 (GRCm39) T269A probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Arpp21
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1803:Arpp21 UTSW 9 111,956,466 (GRCm39) missense possibly damaging 0.61
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
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'- CTAGCAGACATGACGGAATTATGC -3'
(R):5'- AATCATGCTGCCCAGTCAG -3'

Sequencing Primer
(F):5'- GCACCATTAACCAGCTAATGTGTG -3'
(R):5'- CAGTCAGGCAGGCCAAG -3'
Posted On 2015-04-29