Incidental Mutation 'R2248:Ppp2r5c'
| ID |
240973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r5c
|
| Ensembl Gene |
ENSMUSG00000017843 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', gamma |
| Synonyms |
2610043M05Rik, D12Bwg0916e, B56/PP2A gamma, Band 8A, 2700063L20Rik |
| MMRRC Submission |
040248-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110413554-110549496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110452357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 22
(F22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084985]
[ENSMUST00000109832]
[ENSMUST00000220509]
[ENSMUST00000221074]
[ENSMUST00000221715]
|
| AlphaFold |
Q60996 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084985
AA Change: F22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: F22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B56
|
27 |
437 |
1.6e-199 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109832
AA Change: F22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: F22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B56
|
26 |
438 |
3e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221074
AA Change: F22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221715
AA Change: F22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222863
|
| Meta Mutation Damage Score |
0.5848 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trapped allele show partial neonatal lethality, hypoactivity, and abnormal ventricular septum formation associated with increased fetal cardiomyocyte apoptosis. Surviving homozygotes develop obesity and show an abnormal gait, decreased grip strength, and impaired balance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,323,476 (GRCm39) |
|
probably benign |
Het |
| Afp |
A |
G |
5: 90,649,429 (GRCm39) |
D332G |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,123,144 (GRCm39) |
I6F |
possibly damaging |
Het |
| Alg6 |
C |
T |
4: 99,626,444 (GRCm39) |
A84V |
probably damaging |
Het |
| Ank |
T |
A |
15: 27,562,797 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
T |
7: 51,243,537 (GRCm39) |
M837L |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,304 (GRCm39) |
Y30C |
probably benign |
Het |
| Bfsp1 |
A |
T |
2: 143,669,572 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
C |
G |
14: 36,803,334 (GRCm39) |
V581L |
probably benign |
Het |
| Chst8 |
G |
T |
7: 34,447,597 (GRCm39) |
T7K |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,530,980 (GRCm39) |
K790R |
probably benign |
Het |
| Clta |
A |
G |
4: 44,012,852 (GRCm39) |
N21D |
probably damaging |
Het |
| Col6a4 |
T |
G |
9: 105,957,158 (GRCm39) |
E222A |
probably benign |
Het |
| Dcc |
G |
T |
18: 71,959,239 (GRCm39) |
Q178K |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,491,358 (GRCm39) |
D140G |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,007,243 (GRCm39) |
D648V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,628,213 (GRCm39) |
N18S |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,451,400 (GRCm39) |
H1538R |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,162,815 (GRCm39) |
E362G |
probably benign |
Het |
| Frk |
C |
A |
10: 34,484,527 (GRCm39) |
T500K |
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,192 (GRCm39) |
E99G |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,501,595 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,805 (GRCm39) |
S449P |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,730,379 (GRCm39) |
I1655F |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,853,254 (GRCm39) |
T89N |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,875,226 (GRCm39) |
I1756S |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,304,835 (GRCm39) |
R3825L |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,564,036 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,334,033 (GRCm39) |
E2035V |
probably damaging |
Het |
| Khnyn |
T |
A |
14: 56,124,195 (GRCm39) |
S150T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,100,704 (GRCm39) |
I1595T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,607 (GRCm39) |
T230S |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,201,742 (GRCm39) |
G838V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,341,354 (GRCm39) |
D942V |
probably damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,744,050 (GRCm39) |
T153S |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,732 (GRCm39) |
I51N |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,410 (GRCm39) |
T482A |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,295 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,532,088 (GRCm39) |
D2117V |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,168,398 (GRCm39) |
N353S |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,940,926 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,225,944 (GRCm39) |
V274A |
probably damaging |
Het |
| Or4a81 |
C |
A |
2: 89,619,524 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,287 (GRCm39) |
I17V |
probably null |
Het |
| Plk1 |
A |
G |
7: 121,768,044 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
G |
A |
5: 143,853,324 (GRCm39) |
V230M |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,250 (GRCm39) |
|
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,406 (GRCm39) |
V114F |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,871,269 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
T |
10: 107,478,931 (GRCm39) |
|
probably null |
Het |
| Rab18 |
T |
A |
18: 6,788,629 (GRCm39) |
C199S |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,450,251 (GRCm39) |
N4099S |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,869 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
T |
A |
6: 141,492,415 (GRCm39) |
I217N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,143,678 (GRCm39) |
T6241I |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,297 (GRCm39) |
F288L |
possibly damaging |
Het |
| Tmod2 |
G |
T |
9: 75,499,931 (GRCm39) |
T107N |
probably benign |
Het |
| Trappc6b |
T |
C |
12: 59,097,167 (GRCm39) |
T52A |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,232 (GRCm39) |
E122G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,709,103 (GRCm39) |
N443S |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,662,365 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,518,927 (GRCm39) |
Y725N |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,238,019 (GRCm39) |
D207N |
probably benign |
Het |
|
| Other mutations in Ppp2r5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Ppp2r5c
|
APN |
12 |
110,534,261 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01743:Ppp2r5c
|
APN |
12 |
110,546,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01866:Ppp2r5c
|
APN |
12 |
110,534,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02883:Ppp2r5c
|
APN |
12 |
110,488,997 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02944:Ppp2r5c
|
APN |
12 |
110,534,234 (GRCm39) |
missense |
probably benign |
0.02 |
|
Abscond
|
UTSW |
12 |
110,510,511 (GRCm39) |
missense |
probably benign |
0.02 |
|
Cranraisin
|
UTSW |
12 |
110,510,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
elope
|
UTSW |
12 |
110,527,906 (GRCm39) |
splice site |
probably benign |
|
|
FR4976:Ppp2r5c
|
UTSW |
12 |
110,507,172 (GRCm39) |
splice site |
probably null |
|
|
R0020:Ppp2r5c
|
UTSW |
12 |
110,541,257 (GRCm39) |
nonsense |
probably null |
|
|
R0069:Ppp2r5c
|
UTSW |
12 |
110,534,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0069:Ppp2r5c
|
UTSW |
12 |
110,534,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0456:Ppp2r5c
|
UTSW |
12 |
110,489,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1521:Ppp2r5c
|
UTSW |
12 |
110,521,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Ppp2r5c
|
UTSW |
12 |
110,527,906 (GRCm39) |
splice site |
probably benign |
|
|
R1697:Ppp2r5c
|
UTSW |
12 |
110,512,057 (GRCm39) |
nonsense |
probably null |
|
|
R3817:Ppp2r5c
|
UTSW |
12 |
110,510,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4491:Ppp2r5c
|
UTSW |
12 |
110,546,956 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5575:Ppp2r5c
|
UTSW |
12 |
110,519,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Ppp2r5c
|
UTSW |
12 |
110,537,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6059:Ppp2r5c
|
UTSW |
12 |
110,541,222 (GRCm39) |
missense |
probably benign |
|
|
R6351:Ppp2r5c
|
UTSW |
12 |
110,521,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Ppp2r5c
|
UTSW |
12 |
110,535,456 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6976:Ppp2r5c
|
UTSW |
12 |
110,510,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Ppp2r5c
|
UTSW |
12 |
110,432,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Ppp2r5c
|
UTSW |
12 |
110,541,272 (GRCm39) |
missense |
probably benign |
|
|
R7363:Ppp2r5c
|
UTSW |
12 |
110,489,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7467:Ppp2r5c
|
UTSW |
12 |
110,519,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7948:Ppp2r5c
|
UTSW |
12 |
110,432,420 (GRCm39) |
missense |
probably benign |
|
|
R8117:Ppp2r5c
|
UTSW |
12 |
110,517,519 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8310:Ppp2r5c
|
UTSW |
12 |
110,512,259 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8352:Ppp2r5c
|
UTSW |
12 |
110,510,511 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8452:Ppp2r5c
|
UTSW |
12 |
110,510,511 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8692:Ppp2r5c
|
UTSW |
12 |
110,489,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8858:Ppp2r5c
|
UTSW |
12 |
110,519,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9108:Ppp2r5c
|
UTSW |
12 |
110,521,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCACGAAGCAGCCAGTTC -3'
(R):5'- CCGTAAGTAATGTGTAAAATGCCC -3'
Sequencing Primer
(F):5'- TTCCCTCCAGCTGCAGAGAG -3'
(R):5'- TGTGTAAAATGCCCACCGATTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation