Incidental Mutation 'R5957:Arpp21'
ID 471230
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 043246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5957 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112014754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 17 (T17A)
Ref Sequence ENSEMBL: ENSMUSP00000124670 (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 benign
Transcript: ENSMUST00000035085
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: T17A

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: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: T17A

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: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: T17A

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: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123883
Gene: ENSMUSG00000032503
AA Change: T17A

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 noncoding transcript
Transcript: ENSMUST00000159183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159220
Predicted Effect probably benign
Transcript: ENSMUST00000159246
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123715
Gene: ENSMUSG00000032503
AA Change: T17A

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: ENSMUST00000159444
Predicted Effect probably benign
Transcript: ENSMUST00000159451
AA Change: T17A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000125095
Gene: ENSMUSG00000032503
AA Change: T17A

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 noncoding transcript
Transcript: ENSMUST00000159667
Predicted Effect probably benign
Transcript: ENSMUST00000160478
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124550
Gene: ENSMUSG00000032503
AA Change: T17A

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161097
AA Change: T17A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123937
Gene: ENSMUSG00000032503
AA Change: T17A

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161138
Predicted Effect probably benign
Transcript: ENSMUST00000161412
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125282
Gene: ENSMUSG00000032503
AA Change: T17A

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 noncoding transcript
Transcript: ENSMUST00000161467
Predicted Effect probably benign
Transcript: ENSMUST00000162065
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: T17A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161261
Predicted Effect probably benign
Transcript: ENSMUST00000162097
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: T17A

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 noncoding transcript
Transcript: ENSMUST00000162533
Predicted Effect probably benign
Transcript: ENSMUST00000162796
AA Change: T17A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124670
Gene: ENSMUSG00000032503
AA Change: T17A

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 benign
Transcript: ENSMUST00000164754
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: T17A

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
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130558
Gene: ENSMUSG00000032503
AA Change: T17A

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178410
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136769
Gene: ENSMUSG00000032503
AA Change: T17A

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163004
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,922 (GRCm39) T1704A probably benign Het
Adgrg7 T A 16: 56,593,790 (GRCm39) N142I probably damaging Het
Aldh18a1 A T 19: 40,558,981 (GRCm39) Y286* probably null Het
Bnip2 T C 9: 69,906,520 (GRCm39) I147T probably damaging Het
Ccr8 T C 9: 119,922,893 (GRCm39) Y3H probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cul7 G A 17: 46,968,683 (GRCm39) G553S probably damaging Het
Cyp21a1 A G 17: 35,022,150 (GRCm39) I206T probably benign Het
Dennd4b A G 3: 90,178,272 (GRCm39) D488G probably damaging Het
Dip2b T C 15: 100,107,575 (GRCm39) L1195P probably benign Het
Dmac2l T C 12: 69,790,558 (GRCm39) V185A probably benign Het
Dock5 T A 14: 68,095,443 (GRCm39) H77L probably benign Het
Fbxw13 C T 9: 109,021,734 (GRCm39) probably null Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gbf1 G T 19: 46,234,660 (GRCm39) probably null Het
Gm4846 T C 1: 166,314,522 (GRCm39) I374V probably benign Het
Gsk3b C A 16: 38,014,315 (GRCm39) P258T probably damaging Het
Igsf5 T C 16: 96,165,249 (GRCm39) V8A probably benign Het
Il22 T A 10: 118,041,071 (GRCm39) L59Q probably damaging Het
Ildr1 T C 16: 36,545,896 (GRCm39) *517Q probably null Het
Iqca1 T A 1: 90,008,670 (GRCm39) D450V probably damaging Het
Itga5 T C 15: 103,259,856 (GRCm39) D647G probably benign Het
Myh7 T G 14: 55,226,535 (GRCm39) N408T probably damaging Het
Mylk3 T C 8: 86,055,266 (GRCm39) M564V probably damaging Het
Nsd2 T A 5: 34,012,947 (GRCm39) M407K probably damaging Het
Odad2 T C 18: 7,285,706 (GRCm39) E219G probably benign Het
Oprd1 C T 4: 131,871,474 (GRCm39) V75I probably benign Het
Poli G A 18: 70,650,511 (GRCm39) H310Y probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Ptch1 C T 13: 63,672,929 (GRCm39) R755H probably damaging Het
Pygl A T 12: 70,246,494 (GRCm39) M351K probably damaging Het
Serpinb9b T C 13: 33,223,831 (GRCm39) L341P possibly damaging Het
Slc47a1 A G 11: 61,235,168 (GRCm39) V555A probably benign Het
Slc8a2 C A 7: 15,879,209 (GRCm39) T565K possibly damaging Het
Snx14 T C 9: 88,285,327 (GRCm39) I446V possibly damaging Het
Syde1 T C 10: 78,425,951 (GRCm39) Y72C probably damaging Het
Trim37 C T 11: 87,036,377 (GRCm39) R138C probably damaging Het
Tubgcp5 T A 7: 55,464,710 (GRCm39) S530R probably benign Het
Vps13c T C 9: 67,862,253 (GRCm39) S2957P probably damaging Het
Wdr41 T C 13: 95,133,695 (GRCm39) probably null Het
Zyg11b T C 4: 108,102,210 (GRCm39) K504E 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
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
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'- CCTGAACAATTGGGGTCGATTC -3'
(R):5'- CCTCTCTGGGTGTGAATTCAC -3'

Sequencing Primer
(F):5'- GGGGTCGATTCTTAAACTTGATCTCC -3'
(R):5'- GGATCTGGGAGAATGTCTG -3'
Posted On 2017-03-31