Incidental Mutation 'R7335:Arpp21'
ID 591012
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 045372-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 112005319 bp (GRCm39)
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]
AlphaFold Q9DCB4
Predicted Effect probably null
Transcript: ENSMUST00000035085
SMART Domains Protein: ENSMUSP00000035085
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 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

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 null
Transcript: ENSMUST00000111872
SMART Domains Protein: ENSMUSP00000107503
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 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

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 probably null
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
Predicted Effect probably benign
Transcript: ENSMUST00000160478
SMART Domains Protein: ENSMUSP00000124550
Gene: ENSMUSG00000032503

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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 null
Transcript: ENSMUST00000162065
SMART Domains Protein: ENSMUSP00000125684
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 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

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: ENSMUST00000162796
SMART Domains Protein: ENSMUSP00000124670
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
Predicted Effect probably null
Transcript: ENSMUST00000164754
SMART Domains Protein: ENSMUSP00000125862
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
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,493,093 (GRCm39) S35G probably benign Het
Adcy6 G T 15: 98,501,757 (GRCm39) Q286K probably benign Het
Agrn A G 4: 156,260,989 (GRCm39) S676P probably damaging Het
Bmal2 A G 6: 146,711,217 (GRCm39) M74V probably benign Het
C1rb A T 6: 124,552,238 (GRCm39) I319F possibly damaging Het
C2cd3 T C 7: 100,071,810 (GRCm39) V629A Het
Cacna1i T G 15: 80,259,776 (GRCm39) F1287C probably damaging Het
Catspere2 A G 1: 177,926,074 (GRCm39) I247V probably benign Het
Cd101 C G 3: 100,926,045 (GRCm39) A229P probably benign Het
Cdh23 T C 10: 60,140,895 (GRCm39) D3151G probably damaging Het
Cenpc1 C A 5: 86,182,212 (GRCm39) K557N possibly damaging Het
Col6a4 G A 9: 105,954,091 (GRCm39) T416M possibly damaging Het
Cyp2c67 A T 19: 39,628,451 (GRCm39) C164* probably null Het
Dop1b A G 16: 93,544,396 (GRCm39) E179G probably benign Het
Duoxa2 A T 2: 122,131,821 (GRCm39) Y170F possibly damaging Het
Fras1 A G 5: 96,884,829 (GRCm39) K2569R possibly damaging Het
Fsip2 C A 2: 82,813,462 (GRCm39) H3260Q probably benign Het
Gm3402 T C 5: 146,452,043 (GRCm39) I121T probably benign Het
Herc3 T A 6: 58,853,773 (GRCm39) H606Q possibly damaging Het
Hmcn2 T C 2: 31,282,169 (GRCm39) V1927A possibly damaging Het
Hnf4g A G 3: 3,717,924 (GRCm39) H347R possibly damaging Het
Hs3st3a1 A G 11: 64,411,163 (GRCm39) T234A probably benign Het
Hyal1 G T 9: 107,456,359 (GRCm39) V379L probably benign Het
Ighv1-19 A G 12: 114,672,571 (GRCm39) probably benign Het
Iqcc T A 4: 129,510,501 (GRCm39) Q338L not run Het
Kdm5b T C 1: 134,488,177 (GRCm39) V34A probably damaging Het
Lgals4 T C 7: 28,540,571 (GRCm39) F225L probably benign Het
Lmtk3 C T 7: 45,444,581 (GRCm39) T1088I unknown Het
Magel2 A T 7: 62,030,524 (GRCm39) S1143C unknown Het
Mapk4 A T 18: 74,070,338 (GRCm39) L185Q possibly damaging Het
Mtcl2 T C 2: 156,872,925 (GRCm39) Q862R possibly damaging Het
Ncam1 A G 9: 49,418,211 (GRCm39) S1030P Het
Nynrin A T 14: 56,101,371 (GRCm39) T347S probably benign Het
Pak5 T C 2: 135,940,219 (GRCm39) T532A probably damaging Het
Pcdhb15 A G 18: 37,607,389 (GRCm39) E207G probably damaging Het
Pde6h T C 6: 136,940,211 (GRCm39) W66R probably damaging Het
Pmaip1 T C 18: 66,591,885 (GRCm39) probably null Het
Prkd3 A G 17: 79,261,995 (GRCm39) F774S probably damaging Het
Prox1 T A 1: 189,894,042 (GRCm39) R134S possibly damaging Het
Ptpn22 T A 3: 103,793,335 (GRCm39) H495Q probably damaging Het
Ptprj G T 2: 90,271,126 (GRCm39) Q1201K probably benign Het
Rp1l1 A G 14: 64,269,447 (GRCm39) S1678G probably benign Het
Sez6l G T 5: 112,724,678 (GRCm39) probably null Het
Sgcg T A 14: 61,477,816 (GRCm39) Y91F probably damaging Het
Skint2 C T 4: 112,481,415 (GRCm39) L93F probably damaging Het
Slc22a22 A T 15: 57,126,771 (GRCm39) D99E probably benign Het
Slco3a1 A G 7: 73,934,090 (GRCm39) I694T probably damaging Het
Smurf2 A T 11: 106,736,911 (GRCm39) I305N possibly damaging Het
Stac3 T A 10: 127,340,769 (GRCm39) V178D probably benign Het
Suclg2 G A 6: 95,543,444 (GRCm39) A329V probably damaging Het
Suclg2 T A 6: 95,543,441 (GRCm39) N330I probably damaging Het
Tas2r118 C T 6: 23,969,749 (GRCm39) C104Y probably damaging Het
Tom1l2 T G 11: 60,135,991 (GRCm39) E327D probably benign Het
Trit1 T C 4: 122,910,572 (GRCm39) M57T possibly damaging Het
Vav1 G A 17: 57,603,720 (GRCm39) S134N probably benign Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Zfp735 T A 11: 73,602,379 (GRCm39) V441E possibly 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
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
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
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'- TTGGGACTTACATCCTGGTGC -3'
(R):5'- TCCTGAACTAACCCAGAACACTTTG -3'

Sequencing Primer
(F):5'- GACTTACATCCTGGTGCTGCTG -3'
(R):5'- TGAGAAACAGCAATGCCTACTG -3'
Posted On 2019-11-04