Incidental Mutation 'R8397:Arpp21'
ID 647667
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 067760-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 111894159-112065006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111978440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 298 (S298A)
Ref Sequence ENSEMBL: ENSMUSP00000125862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035085] [ENSMUST00000070218] [ENSMUST00000111872] [ENSMUST00000159246] [ENSMUST00000159451] [ENSMUST00000162065] [ENSMUST00000164754] [ENSMUST00000162097]
AlphaFold Q9DCB4
Predicted Effect probably damaging
Transcript: ENSMUST00000035085
AA Change: S265A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: S265A

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 possibly damaging
Transcript: ENSMUST00000070218
AA Change: S265A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: S265A

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 possibly damaging
Transcript: ENSMUST00000111872
AA Change: S265A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: S265A

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
AA Change: I228M

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123715
Gene: ENSMUSG00000032503
AA Change: I228M

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 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 possibly damaging
Transcript: ENSMUST00000162065
AA Change: S265A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: S265A

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 possibly damaging
Transcript: ENSMUST00000164754
AA Change: S298A

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: S298A

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 possibly damaging
Transcript: ENSMUST00000162097
AA Change: S298A

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: S298A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,767,141 (GRCm39) T499A probably benign Het
Ahsa1 G T 12: 87,320,451 (GRCm39) E311* probably null Het
Apol9a C T 15: 77,288,813 (GRCm39) V185I probably benign Het
Arhgap27 T A 11: 103,224,073 (GRCm39) D580V probably damaging Het
B4galnt2 T A 11: 95,756,989 (GRCm39) T481S probably benign Het
Cct8 G A 16: 87,290,651 (GRCm39) R59C possibly damaging Het
Cdhr5 C T 7: 140,851,801 (GRCm39) G501E possibly damaging Het
Chka G A 19: 3,902,414 (GRCm39) probably null Het
Cit C A 5: 116,024,856 (GRCm39) N366K probably benign Het
Dennd4a A T 9: 64,796,391 (GRCm39) M806L probably benign Het
Dhx9 T A 1: 153,344,657 (GRCm39) H510L probably damaging Het
Esyt3 C T 9: 99,209,966 (GRCm39) V305I probably benign Het
Fbxo40 A T 16: 36,790,985 (GRCm39) C42S probably damaging Het
Fbxw26 T C 9: 109,561,715 (GRCm39) M160V probably damaging Het
Frem2 A G 3: 53,560,562 (GRCm39) V1315A probably benign Het
Gbp9 T A 5: 105,231,464 (GRCm39) N374I possibly damaging Het
Gm11992 T G 11: 9,011,305 (GRCm39) S249A probably damaging Het
Gm14418 T A 2: 177,079,086 (GRCm39) Q303L probably damaging Het
Hectd4 C A 5: 121,397,957 (GRCm39) P295Q probably damaging Het
Kdm2b T C 5: 123,018,579 (GRCm39) N954D probably benign Het
Klf15 C T 6: 90,443,778 (GRCm39) H118Y probably damaging Het
Lrit2 G T 14: 36,791,034 (GRCm39) A238S probably damaging Het
Man2c1 A C 9: 57,042,783 (GRCm39) M218L probably benign Het
Map3k1 T A 13: 111,892,138 (GRCm39) H1039L probably damaging Het
Map3k9 A G 12: 81,769,136 (GRCm39) S971P probably benign Het
Map4k3 C T 17: 80,971,446 (GRCm39) V74I probably damaging Het
Mars1 A T 10: 127,136,368 (GRCm39) S486T possibly damaging Het
Mettl13 A T 1: 162,371,887 (GRCm39) S327R possibly damaging Het
Mkks G A 2: 136,722,923 (GRCm39) T78M possibly damaging Het
Mst1 C T 9: 107,958,698 (GRCm39) probably benign Het
Myh1 G T 11: 67,112,465 (GRCm39) A1811S probably damaging Het
Myh13 A G 11: 67,241,113 (GRCm39) H830R possibly damaging Het
Nek4 A G 14: 30,692,505 (GRCm39) D443G possibly damaging Het
Nf1 T C 11: 79,438,518 (GRCm39) L137P probably damaging Het
Nipsnap3b T C 4: 53,012,049 (GRCm39) probably null Het
Nos1ap G T 1: 170,155,194 (GRCm39) P220T unknown Het
Nrxn3 T A 12: 90,298,583 (GRCm39) I368N probably benign Het
Nup133 T A 8: 124,649,156 (GRCm39) Q562L probably benign Het
Nup214 T A 2: 31,880,266 (GRCm39) L342Q probably damaging Het
Nxn A G 11: 76,163,232 (GRCm39) S264P probably damaging Het
Or11g24 G T 14: 50,662,137 (GRCm39) D54Y probably damaging Het
Otud4 T C 8: 80,395,927 (GRCm39) S567P probably benign Het
Patl2 A C 2: 121,955,754 (GRCm39) S261A probably damaging Het
Pcdh15 C T 10: 74,126,865 (GRCm39) P315S probably damaging Het
Pcm1 T A 8: 41,736,616 (GRCm39) H827Q probably damaging Het
Pirb G A 7: 3,719,045 (GRCm39) L615F probably damaging Het
Ppp1r12c T A 7: 4,492,768 (GRCm39) H236L probably damaging Het
Prkd1 C T 12: 50,439,675 (GRCm39) G384E probably benign Het
Rmnd1 C A 10: 4,377,278 (GRCm39) E134* probably null Het
Rusc2 T A 4: 43,424,206 (GRCm39) H1090Q possibly damaging Het
Sema5b A C 16: 35,471,691 (GRCm39) Y428S possibly damaging Het
Slc2a8 T A 2: 32,866,010 (GRCm39) I301L probably benign Het
Slc38a11 C T 2: 65,160,635 (GRCm39) V320M probably damaging Het
Slc4a5 G T 6: 83,266,308 (GRCm39) probably null Het
Slc7a6 T C 8: 106,920,165 (GRCm39) I320T probably damaging Het
Slc8a3 A G 12: 81,246,542 (GRCm39) I837T probably benign Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Tlr3 A T 8: 45,851,896 (GRCm39) F334I possibly damaging Het
Unc13b A G 4: 43,217,290 (GRCm39) I530V probably benign Het
Vmn2r68 T C 7: 84,886,722 (GRCm39) D64G possibly damaging Het
Zfp157 T A 5: 138,454,518 (GRCm39) Y239N 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
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
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'- GTCTGAAAGAAACCAAGATAACTGC -3'
(R):5'- TGCTGCTGTGAACTGGCTAC -3'

Sequencing Primer
(F):5'- GATAACTGCTTCCTCAAATCAAATGC -3'
(R):5'- CTGTGAACTGGCTACCCTGTG -3'
Posted On 2020-09-02