Incidental Mutation 'R8090:Arpp21'
ID 629897
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 067523-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8090 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111945769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 593 (L593S)
Ref Sequence ENSEMBL: ENSMUSP00000125095 (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
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 benign
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 benign
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 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 unknown
Transcript: ENSMUST00000159451
AA Change: L593S
SMART Domains Protein: ENSMUSP00000125095
Gene: ENSMUSG00000032503
AA Change: L593S

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: 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 benign
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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 92.1%
Validation Efficiency 99% (73/74)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat T C 11: 116,487,017 (GRCm39) C75R probably damaging Het
Ackr2 A G 9: 121,738,045 (GRCm39) D140G possibly damaging Het
Adgrv1 C A 13: 81,596,953 (GRCm39) probably null Het
Atn1 G A 6: 124,722,304 (GRCm39) P850S unknown Het
Capn13 G A 17: 73,689,849 (GRCm39) S54L probably benign Het
Cd1d2 C T 3: 86,893,964 (GRCm39) P5S possibly damaging Het
Cgn A G 3: 94,687,263 (GRCm39) V13A probably damaging Het
Clint1 T C 11: 45,778,267 (GRCm39) V136A probably damaging Het
Cox5a T A 9: 57,436,346 (GRCm39) L66M probably damaging Het
Crb2 G T 2: 37,685,503 (GRCm39) C1205F probably damaging Het
Ddx3y C T Y: 1,264,897 (GRCm39) S519N probably benign Het
Defb50 G A 8: 22,321,087 (GRCm39) G26S probably damaging Het
Dock8 T C 19: 25,131,606 (GRCm39) L1112P probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Gm9837 A G 11: 53,361,065 (GRCm39) S50P unknown Het
Gon4l A G 3: 88,799,931 (GRCm39) I859V probably damaging Het
Grin3a A T 4: 49,714,224 (GRCm39) D840E probably damaging Het
Ifit2 T A 19: 34,550,662 (GRCm39) N67K possibly damaging Het
Il17re G A 6: 113,439,250 (GRCm39) W53* probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Krt25 T A 11: 99,207,416 (GRCm39) probably null Het
Krt26 T C 11: 99,227,315 (GRCm39) M171V probably benign Het
Lrba T C 3: 86,255,796 (GRCm39) L1046S probably benign Het
Lrp2 G T 2: 69,295,089 (GRCm39) P3410T possibly damaging Het
Madd T C 2: 90,985,968 (GRCm39) K1241R probably benign Het
Mcm8 T G 2: 132,673,569 (GRCm39) S402A probably benign Het
Mpc1 A C 17: 8,515,705 (GRCm39) Q74H probably benign Het
Mroh4 A G 15: 74,496,550 (GRCm39) V279A probably benign Het
Muc21 G C 17: 35,932,617 (GRCm39) T523S unknown Het
Ndufs2 A T 1: 171,064,247 (GRCm39) H380Q probably damaging Het
Nkx2-6 T C 14: 69,409,465 (GRCm39) L72P possibly damaging Het
Nme6 T A 9: 109,671,019 (GRCm39) L73* probably null Het
Odf2l G T 3: 144,832,796 (GRCm39) A85S probably damaging Het
Or51ac3 A T 7: 103,214,048 (GRCm39) I146K probably benign Het
P4ha3 T A 7: 99,949,859 (GRCm39) C109S probably damaging Het
Plpp6 C T 19: 28,942,271 (GRCm39) Q291* probably null Het
Plxnd1 G A 6: 115,933,578 (GRCm39) A1855V probably damaging Het
Ptcd1 A T 5: 145,096,345 (GRCm39) H249Q possibly damaging Het
Rnf149 C A 1: 39,616,304 (GRCm39) A18S unknown Het
Scara5 C T 14: 65,979,586 (GRCm39) R368* probably null Het
Sfmbt2 G A 2: 10,466,190 (GRCm39) D342N probably benign Het
Shank3 T A 15: 89,389,661 (GRCm39) probably null Het
Slc22a27 A G 19: 7,843,101 (GRCm39) probably null Het
Srgap3 G T 6: 112,757,996 (GRCm39) Y170* probably null Het
Szt2 A T 4: 118,244,199 (GRCm39) probably null Het
Tbccd1 A G 16: 22,660,805 (GRCm39) S4P probably benign Het
Tcf20 A G 15: 82,740,207 (GRCm39) S415P probably damaging Het
Tdrd9 T C 12: 111,982,369 (GRCm39) S487P probably damaging Het
Trim26 A G 17: 37,167,640 (GRCm39) Q300R possibly damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Yif1b A G 7: 28,943,726 (GRCm39) N93S probably benign Het
Zdhhc22 C A 12: 87,030,394 (GRCm39) V185F probably benign Het
Zfp638 G T 6: 83,906,801 (GRCm39) S322I probably damaging Het
Zfp786 T A 6: 47,796,943 (GRCm39) H665L probably damaging Het
Zfp799 C T 17: 33,039,949 (GRCm39) V106I 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
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
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'- GTAACAACCATCTAAAGGGACAATGTC -3'
(R):5'- GCCATGGGTGACAGTCATTG -3'

Sequencing Primer
(F):5'- GAACATTCCCATAAATAACCCCACTG -3'
(R):5'- TCATTGTGGTCTGAGAGTAAGAGAC -3'
Posted On 2020-06-30