Incidental Mutation 'IGL02835:Pakap'
ID |
391963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pakap
|
Ensembl Gene |
ENSMUSG00000089945 |
Gene Name |
paralemmin A kinase anchor protein |
Synonyms |
Palm2-Akap2, Akap2, AKAP-KL, Palm2Akap2, Gm20459, AF064781, B230340M18Rik, 53-H12, pEN70, Palm2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
IGL02835 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 57883044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 837
(P837A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043456
AA Change: P796A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: P796A
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
568 |
885 |
2.5e-17 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
1.6e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098064
AA Change: P796A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: P796A
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
569 |
872 |
4e-13 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
2.9e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098066
|
SMART Domains |
Protein: ENSMUSP00000095674 Gene: ENSMUSG00000089945
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102902
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
585 |
602 |
3.5e-5 |
PFAM |
coiled coil region
|
730 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102903
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
585 |
602 |
3.5e-5 |
PFAM |
coiled coil region
|
730 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107598
AA Change: P796A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: P796A
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
569 |
872 |
4e-13 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
2.9e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107600
AA Change: P837A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: P837A
Domain | Start | End | E-Value | Type |
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
low complexity region
|
254 |
268 |
N/A |
INTRINSIC |
coiled coil region
|
297 |
355 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
636 |
913 |
2.8e-12 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: P1039A
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: P1039A
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
low complexity region
|
35 |
59 |
N/A |
INTRINSIC |
Pfam:Paralemmin
|
115 |
269 |
6.5e-23 |
PFAM |
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
557 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
847 |
1129 |
1.9e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.1590 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
A |
8: 79,937,284 (GRCm39) |
K208* |
probably null |
Het |
A530016L24Rik |
A |
C |
12: 112,461,420 (GRCm39) |
|
probably null |
Het |
A830018L16Rik |
A |
C |
1: 12,042,279 (GRCm39) |
D433A |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,401,515 (GRCm39) |
I3985N |
probably damaging |
Het |
Abhd17c |
C |
T |
7: 83,800,731 (GRCm39) |
D108N |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,326,173 (GRCm39) |
D94N |
probably damaging |
Het |
Agr2 |
A |
G |
12: 36,045,903 (GRCm39) |
D50G |
probably benign |
Het |
Angptl1 |
A |
G |
1: 156,686,090 (GRCm39) |
D392G |
probably benign |
Het |
Apob |
A |
G |
12: 8,065,097 (GRCm39) |
N3989S |
possibly damaging |
Het |
AU018091 |
T |
C |
7: 3,218,897 (GRCm39) |
D12G |
unknown |
Het |
Cyfip2 |
A |
T |
11: 46,140,598 (GRCm39) |
S742T |
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,051,055 (GRCm39) |
S892N |
probably damaging |
Het |
Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
Egfem1 |
T |
C |
3: 29,711,390 (GRCm39) |
L323P |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fjx1 |
G |
A |
2: 102,281,092 (GRCm39) |
A281V |
possibly damaging |
Het |
Fmn2 |
T |
A |
1: 174,409,625 (GRCm39) |
D619E |
unknown |
Het |
Gm4795 |
A |
C |
10: 44,882,254 (GRCm39) |
|
noncoding transcript |
Het |
Gm5117 |
T |
C |
8: 32,227,198 (GRCm39) |
|
noncoding transcript |
Het |
Gm5250 |
T |
C |
1: 13,132,418 (GRCm39) |
|
noncoding transcript |
Het |
Gtdc1 |
A |
T |
2: 44,646,324 (GRCm39) |
Y101* |
probably null |
Het |
Herc6 |
T |
C |
6: 57,623,146 (GRCm39) |
I583T |
possibly damaging |
Het |
Hyal4 |
G |
A |
6: 24,765,714 (GRCm39) |
R356H |
probably benign |
Het |
Il22ra2 |
C |
A |
10: 19,502,424 (GRCm39) |
T81K |
probably benign |
Het |
Iqcm |
T |
A |
8: 76,281,511 (GRCm39) |
|
probably benign |
Het |
Izumo4 |
G |
A |
10: 80,540,959 (GRCm39) |
V220I |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,554,133 (GRCm39) |
D899E |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,335,648 (GRCm39) |
N1358K |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,698,863 (GRCm39) |
|
probably null |
Het |
Lyst |
C |
T |
13: 13,835,685 (GRCm39) |
T1789M |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,049,760 (GRCm39) |
T732A |
probably damaging |
Het |
Mdh1b |
A |
T |
1: 63,757,816 (GRCm39) |
I305N |
probably damaging |
Het |
Mettl13 |
A |
G |
1: 162,373,585 (GRCm39) |
I222T |
probably damaging |
Het |
Mtcl2 |
G |
A |
2: 156,883,854 (GRCm39) |
T363I |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,584,319 (GRCm39) |
F2583L |
probably benign |
Het |
Nbea |
C |
T |
3: 55,625,290 (GRCm39) |
R2267Q |
possibly damaging |
Het |
Ndfip1 |
T |
C |
18: 38,589,144 (GRCm39) |
Y178H |
probably damaging |
Het |
Nin |
A |
T |
12: 70,103,512 (GRCm39) |
F243I |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,523,869 (GRCm39) |
I537K |
possibly damaging |
Het |
Nup155 |
T |
C |
15: 8,172,614 (GRCm39) |
Y867H |
probably damaging |
Het |
Pik3r4 |
A |
C |
9: 105,549,905 (GRCm39) |
I999L |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,952,292 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polg2 |
A |
T |
11: 106,666,266 (GRCm39) |
V293E |
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,380,817 (GRCm39) |
Y402F |
probably damaging |
Het |
Prok1 |
T |
C |
3: 107,144,531 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
T |
C |
5: 145,091,500 (GRCm39) |
D533G |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,707,891 (GRCm39) |
V1484A |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,293 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
T |
G |
1: 107,530,586 (GRCm39) |
F121L |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,679,081 (GRCm39) |
V41E |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,182,126 (GRCm39) |
N725S |
possibly damaging |
Het |
Stab1 |
A |
T |
14: 30,867,981 (GRCm39) |
|
probably null |
Het |
Themis |
A |
T |
10: 28,637,616 (GRCm39) |
|
probably benign |
Het |
Trim68 |
T |
A |
7: 102,327,780 (GRCm39) |
Y391F |
probably benign |
Het |
Trmt1 |
T |
G |
8: 85,423,589 (GRCm39) |
V327G |
probably null |
Het |
Vill |
C |
T |
9: 118,896,513 (GRCm39) |
T120M |
probably benign |
Het |
|
Other mutations in Pakap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:Pakap
|
APN |
4 |
57,757,627 (GRCm39) |
nonsense |
probably null |
|
IGL01371:Pakap
|
APN |
4 |
57,856,325 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01647:Pakap
|
APN |
4 |
57,688,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01733:Pakap
|
APN |
4 |
57,856,488 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02677:Pakap
|
APN |
4 |
57,856,263 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02696:Pakap
|
APN |
4 |
57,854,663 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02736:Pakap
|
APN |
4 |
57,709,721 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03067:Pakap
|
APN |
4 |
57,648,038 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03343:Pakap
|
APN |
4 |
57,688,502 (GRCm39) |
missense |
probably damaging |
1.00 |
A9681:Pakap
|
UTSW |
4 |
57,855,358 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Pakap
|
UTSW |
4 |
57,638,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0158:Pakap
|
UTSW |
4 |
57,709,649 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0244:Pakap
|
UTSW |
4 |
57,710,177 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0284:Pakap
|
UTSW |
4 |
57,855,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Pakap
|
UTSW |
4 |
57,855,628 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0594:Pakap
|
UTSW |
4 |
57,856,752 (GRCm39) |
missense |
probably benign |
0.00 |
R0614:Pakap
|
UTSW |
4 |
57,856,720 (GRCm39) |
missense |
probably benign |
0.41 |
R0617:Pakap
|
UTSW |
4 |
57,829,434 (GRCm39) |
intron |
probably benign |
|
R0763:Pakap
|
UTSW |
4 |
57,688,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R0800:Pakap
|
UTSW |
4 |
57,709,650 (GRCm39) |
missense |
probably benign |
0.06 |
R1228:Pakap
|
UTSW |
4 |
57,856,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Pakap
|
UTSW |
4 |
57,709,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R1895:Pakap
|
UTSW |
4 |
57,638,068 (GRCm39) |
missense |
probably benign |
0.01 |
R1913:Pakap
|
UTSW |
4 |
57,892,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Pakap
|
UTSW |
4 |
57,855,927 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2128:Pakap
|
UTSW |
4 |
57,854,890 (GRCm39) |
missense |
probably benign |
0.40 |
R2339:Pakap
|
UTSW |
4 |
57,883,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Pakap
|
UTSW |
4 |
57,709,954 (GRCm39) |
missense |
probably benign |
0.26 |
R4667:Pakap
|
UTSW |
4 |
57,855,655 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4804:Pakap
|
UTSW |
4 |
57,854,688 (GRCm39) |
missense |
probably benign |
0.05 |
R4989:Pakap
|
UTSW |
4 |
57,856,552 (GRCm39) |
missense |
probably benign |
|
R5135:Pakap
|
UTSW |
4 |
57,855,912 (GRCm39) |
missense |
probably benign |
0.00 |
R5292:Pakap
|
UTSW |
4 |
57,855,356 (GRCm39) |
missense |
probably damaging |
0.98 |
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5420:Pakap
|
UTSW |
4 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
R5442:Pakap
|
UTSW |
4 |
57,637,876 (GRCm39) |
missense |
probably null |
|
R5517:Pakap
|
UTSW |
4 |
57,855,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R5648:Pakap
|
UTSW |
4 |
57,854,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Pakap
|
UTSW |
4 |
57,856,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Pakap
|
UTSW |
4 |
57,855,273 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6133:Pakap
|
UTSW |
4 |
57,855,516 (GRCm39) |
nonsense |
probably null |
|
R6189:Pakap
|
UTSW |
4 |
57,855,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6221:Pakap
|
UTSW |
4 |
57,855,618 (GRCm39) |
nonsense |
probably null |
|
R6320:Pakap
|
UTSW |
4 |
57,710,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Pakap
|
UTSW |
4 |
57,709,675 (GRCm39) |
nonsense |
probably null |
|
R6532:Pakap
|
UTSW |
4 |
57,855,174 (GRCm39) |
missense |
probably benign |
0.00 |
R6760:Pakap
|
UTSW |
4 |
57,856,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R6792:Pakap
|
UTSW |
4 |
57,855,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6983:Pakap
|
UTSW |
4 |
57,709,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Pakap
|
UTSW |
4 |
57,648,042 (GRCm39) |
missense |
probably benign |
0.00 |
R7128:Pakap
|
UTSW |
4 |
57,855,816 (GRCm39) |
missense |
probably benign |
0.03 |
R7269:Pakap
|
UTSW |
4 |
57,855,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Pakap
|
UTSW |
4 |
57,709,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Pakap
|
UTSW |
4 |
57,709,519 (GRCm39) |
missense |
probably damaging |
0.97 |
R7837:Pakap
|
UTSW |
4 |
57,855,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Pakap
|
UTSW |
4 |
57,883,026 (GRCm39) |
missense |
probably damaging |
0.98 |
R7946:Pakap
|
UTSW |
4 |
57,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Pakap
|
UTSW |
4 |
57,886,319 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8275:Pakap
|
UTSW |
4 |
57,886,329 (GRCm39) |
critical splice donor site |
probably null |
|
R8702:Pakap
|
UTSW |
4 |
57,709,489 (GRCm39) |
nonsense |
probably null |
|
R8836:Pakap
|
UTSW |
4 |
57,709,916 (GRCm39) |
missense |
probably benign |
0.01 |
R9010:Pakap
|
UTSW |
4 |
57,883,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Pakap
|
UTSW |
4 |
57,637,857 (GRCm39) |
missense |
unknown |
|
R9060:Pakap
|
UTSW |
4 |
57,855,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R9215:Pakap
|
UTSW |
4 |
57,709,595 (GRCm39) |
missense |
probably damaging |
0.97 |
R9652:Pakap
|
UTSW |
4 |
57,710,125 (GRCm39) |
missense |
possibly damaging |
0.51 |
X0065:Pakap
|
UTSW |
4 |
57,709,805 (GRCm39) |
missense |
probably benign |
|
Z1177:Pakap
|
UTSW |
4 |
57,856,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGGTTTGCACTTCGTTCTC -3'
(R):5'- ACACTCAAGGTCACCTTCAG -3'
Sequencing Primer
(F):5'- GCACTTCGTTCTCTTAATGAAACC -3'
(R):5'- TCAAGGTCACCTTCAGAAAAGAG -3'
|
Posted On |
2016-06-08 |