Incidental Mutation 'R3729:Arpp21'
| ID |
270883 |
| 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 |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
111894159-112065006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111895047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 739
(Y739F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035085]
[ENSMUST00000070218]
[ENSMUST00000111872]
[ENSMUST00000159246]
[ENSMUST00000162065]
[ENSMUST00000162097]
[ENSMUST00000164754]
|
| AlphaFold |
Q9DCB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035085
AA Change: Y719F
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035085
Gene: ENSMUSG00000032503
AA Change: Y719F
| Domain | Start | End | E-Value | Type |
|---|
|
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: Y739F
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069264
Gene: ENSMUSG00000032503
AA Change: Y739F
| Domain | Start | End | E-Value | Type |
|---|
|
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: Y739F
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107503
Gene: ENSMUSG00000032503
AA Change: Y739F
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162065
AA Change: Y739F
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125684
Gene: ENSMUSG00000032503
AA Change: Y739F
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: Y737F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124502
Gene: ENSMUSG00000032503
AA Change: Y737F
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: Y737F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000125862
Gene: ENSMUSG00000032503
AA Change: Y737F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
Het |
|
| Other mutations in Arpp21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- ACAGTTTGTTCTGCAACTAGC -3'
(R):5'- ACCGGTGTCAAGAGTTGTACAG -3'
Sequencing Primer
(F):5'- CTAGCGGACATGACAGGAACC -3'
(R):5'- CAGGTTAAGTGACTTTCTCCAAGCG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation