Incidental Mutation 'R0707:Arpp21'
ID 63177
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 038890-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0707 (G1)
Quality Score 140
Status Validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111986824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 242 (S242R)
Ref Sequence ENSEMBL: ENSMUSP00000125862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035085] [ENSMUST00000070218] [ENSMUST00000111872] [ENSMUST00000159055] [ENSMUST00000159246] [ENSMUST00000162065] [ENSMUST00000162097] [ENSMUST00000164754] [ENSMUST00000161412] [ENSMUST00000159451]
AlphaFold Q9DCB4
Predicted Effect probably benign
Transcript: ENSMUST00000035085
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: S242R

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 benign
Transcript: ENSMUST00000070218
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: S242R

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: ENSMUST00000111872
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: S242R

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: ENSMUST00000159055
AA Change: S242R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123883
Gene: ENSMUSG00000032503
AA Change: S242R

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
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 probably benign
Transcript: ENSMUST00000162065
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: S242R

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: ENSMUST00000162097
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: S242R

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 benign
Transcript: ENSMUST00000164754
AA Change: S242R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: S242R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159667
Predicted Effect probably benign
Transcript: ENSMUST00000161412
SMART Domains Protein: ENSMUSP00000125282
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
Predicted Effect probably benign
Transcript: ENSMUST00000159451
SMART Domains Protein: ENSMUSP00000125095
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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,617,329 (GRCm39) F259S probably damaging Het
Aldh16a1 T A 7: 44,793,931 (GRCm39) probably benign Het
Ankrd24 A T 10: 81,478,547 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,564,951 (GRCm39) S641P probably damaging Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Bud31 A G 5: 145,083,265 (GRCm39) Y77C probably damaging Het
Ccdc65 G A 15: 98,607,095 (GRCm39) V101I possibly damaging Het
Ccr7 T A 11: 99,036,809 (GRCm39) T38S probably damaging Het
Cdc14a T C 3: 116,087,362 (GRCm39) probably benign Het
Ces2f C T 8: 105,677,618 (GRCm39) H208Y possibly damaging Het
Chst1 C A 2: 92,443,964 (GRCm39) N145K possibly damaging Het
Clock A G 5: 76,374,976 (GRCm39) V731A possibly damaging Het
Cog6 C T 3: 52,921,283 (GRCm39) V108I possibly damaging Het
Cplane1 T A 15: 8,287,805 (GRCm39) N2881K unknown Het
Crtc2 T A 3: 90,170,804 (GRCm39) F626I probably damaging Het
Dicer1 A T 12: 104,673,144 (GRCm39) F792I probably damaging Het
Dnajc13 T C 9: 104,049,781 (GRCm39) K1780R probably benign Het
Dph5 A C 3: 115,708,782 (GRCm39) N155H probably benign Het
Dscam T C 16: 96,626,982 (GRCm39) probably null Het
Etl4 C A 2: 20,810,382 (GRCm39) probably benign Het
Flt3l T C 7: 44,785,450 (GRCm39) S9G probably benign Het
Fmnl2 A G 2: 52,944,498 (GRCm39) E159G possibly damaging Het
Fryl A G 5: 73,240,715 (GRCm39) I1295T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Herc6 G A 6: 57,639,347 (GRCm39) G905E possibly damaging Het
Hhip T A 8: 80,724,884 (GRCm39) N296I probably damaging Het
Hmgcr A T 13: 96,787,151 (GRCm39) probably benign Het
Kalrn T G 16: 33,830,951 (GRCm39) N723H possibly damaging Het
Mroh5 T A 15: 73,662,588 (GRCm39) Y242F possibly damaging Het
Msh3 T A 13: 92,483,848 (GRCm39) K258* probably null Het
Myo1a T C 10: 127,555,732 (GRCm39) probably benign Het
Nlrp4f C T 13: 65,342,317 (GRCm39) E443K probably benign Het
Nupr2 A G 5: 129,937,533 (GRCm39) Y34C probably damaging Het
Ociad1 T C 5: 73,452,255 (GRCm39) probably benign Het
Or1af1 A T 2: 37,110,208 (GRCm39) K236* probably null Het
Or5af2 T A 11: 58,708,577 (GRCm39) L248M probably damaging Het
Or5b3 A T 19: 13,388,784 (GRCm39) M284L probably benign Het
Or5p5 A G 7: 107,414,331 (GRCm39) D182G probably damaging Het
Or6ae1 T C 7: 139,742,002 (GRCm39) N287S probably damaging Het
P2ry12 C A 3: 59,124,908 (GRCm39) V256F probably damaging Het
Pcdhb22 T A 18: 37,651,904 (GRCm39) I124N probably damaging Het
Pcnt A G 10: 76,256,375 (GRCm39) F622L probably damaging Het
Pfas A T 11: 68,888,863 (GRCm39) N361K probably benign Het
Plod2 T G 9: 92,487,480 (GRCm39) L600V possibly damaging Het
Pole T C 5: 110,446,854 (GRCm39) Y631H probably damaging Het
Proser1 T C 3: 53,386,197 (GRCm39) L693P probably damaging Het
Ptprd A G 4: 75,875,476 (GRCm39) Y1195H probably damaging Het
Rbm27 T A 18: 42,459,091 (GRCm39) probably null Het
Ric8a A G 7: 140,437,886 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rimkla C T 4: 119,335,177 (GRCm39) V69M probably damaging Het
Scfd1 A T 12: 51,459,360 (GRCm39) K307M probably damaging Het
Sh2b2 A G 5: 136,261,117 (GRCm39) F33S probably damaging Het
Smg7 T G 1: 152,746,508 (GRCm39) probably null Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Strn3 G A 12: 51,657,187 (GRCm39) T642I probably damaging Het
Syne2 T C 12: 76,028,837 (GRCm39) probably null Het
Syne3 A G 12: 104,935,619 (GRCm39) L53P probably damaging Het
Tcea1 T A 1: 4,950,569 (GRCm39) probably benign Het
Tmem30b T C 12: 73,592,942 (GRCm39) N58D probably benign Het
Tnpo1 A G 13: 98,991,954 (GRCm39) Y641H probably damaging Het
Trim25 A T 11: 88,890,564 (GRCm39) T84S probably benign Het
Trip4 A T 9: 65,746,286 (GRCm39) F537I possibly damaging Het
Uaca G A 9: 60,755,900 (GRCm39) probably benign Het
Ugt2b34 T A 5: 87,040,758 (GRCm39) Y388F possibly damaging Het
Vmn2r71 T C 7: 85,268,640 (GRCm39) V281A probably benign Het
Vps13d A T 4: 144,882,502 (GRCm39) D1030E probably damaging Het
Vps8 C A 16: 21,261,107 (GRCm39) F82L probably damaging Het
Zfp296 A G 7: 19,313,661 (GRCm39) D172G probably benign Het
Zfp977 C A 7: 42,229,958 (GRCm39) C189F probably damaging 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
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
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'- TGCTAAGCAACTGGAGCAATACCAC -3'
(R):5'- ACCTGCCTATGTTGCCAGCAATTC -3'

Sequencing Primer
(F):5'- TACCCGGTGAATGCTGGAG -3'
(R):5'- GTTGCCAGCAATTCTAATTTCAC -3'
Posted On 2013-07-30