Incidental Mutation 'R4131:Arpp21'
ID 314681
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 040994-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4131 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 111984376 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] [ENSMUST00000162097] [ENSMUST00000159451] [ENSMUST00000164754] [ENSMUST00000162065]
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: 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 noncoding transcript
Transcript: ENSMUST00000159432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159667
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: 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: 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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (32/32)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Abca12 A G 1: 71,359,030 (GRCm39) probably null Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Art3 A T 5: 92,540,421 (GRCm39) M55L probably benign Het
C1d C T 11: 17,214,054 (GRCm39) probably benign Het
Ces1c A G 8: 93,827,312 (GRCm39) M484T probably damaging Het
Cisd3 T C 11: 97,579,257 (GRCm39) V133A possibly damaging Het
Clpx A G 9: 65,223,937 (GRCm39) I230V possibly damaging Het
Cmklr1 C A 5: 113,752,545 (GRCm39) R152L probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Heca A G 10: 17,777,987 (GRCm39) S537P probably damaging Het
Igha C A 12: 113,222,449 (GRCm39) probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Klk1b3 T A 7: 43,851,111 (GRCm39) N181K probably damaging Het
Klra2 T A 6: 131,205,180 (GRCm39) R220S probably benign Het
Lama2 C T 10: 26,917,170 (GRCm39) V2252I probably benign Het
Megf10 G A 18: 57,313,607 (GRCm39) C17Y probably damaging Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or52n4b C G 7: 108,143,744 (GRCm39) S2* probably null Het
Or8b37 T A 9: 37,959,170 (GRCm39) Y217* probably null Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Phactr1 A T 13: 43,190,953 (GRCm39) Q141L probably damaging Het
Prelid2 T G 18: 42,084,224 (GRCm39) D6A possibly damaging Het
Psmd1 T C 1: 86,006,422 (GRCm39) S263P probably damaging Het
Rassf6 C T 5: 90,757,646 (GRCm39) D105N probably damaging Het
Ryr3 C T 2: 112,757,328 (GRCm39) probably null Het
Sema4g T A 19: 44,987,358 (GRCm39) F501L probably benign Het
Ssrp1 A G 2: 84,874,791 (GRCm39) E537G probably null Het
Try4 T A 6: 41,282,335 (GRCm39) Y218* probably null Het
Zbtb40 G T 4: 136,722,707 (GRCm39) S790R 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
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'- AGGTGATCTGCTACCTAGATGTAAAG -3'
(R):5'- CCCATTTAGAGATGACAGACGAAG -3'

Sequencing Primer
(F):5'- TCTACCCTGGTAGGTGAT -3'
(R):5'- ACGAAGTAAATCAATTGAAGAGAGAG -3'
Posted On 2015-05-14