Incidental Mutation 'IGL01647:Pakap'
ID |
102719 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.107)
|
Stock # |
IGL01647
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57688477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 107
(I107F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098066]
[ENSMUST00000102904]
[ENSMUST00000102905]
[ENSMUST00000126465]
[ENSMUST00000142556]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098066
AA Change: I107F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095674 Gene: ENSMUSG00000089945 AA Change: I107F
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102904
AA Change: I107F
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099968 Gene: ENSMUSG00000090053 AA Change: I107F
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102905
AA Change: I107F
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099969 Gene: ENSMUSG00000090053 AA Change: I107F
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
376 |
5.8e-109 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126465
AA Change: I107F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130230 Gene: ENSMUSG00000089945 AA Change: I107F
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131201
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142556
AA Change: I107F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129817 Gene: ENSMUSG00000090053 AA Change: I107F
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
136 |
8.7e-11 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: I154F
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: I154F
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
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 |
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 |
IGL02835:Pakap
|
UTSW |
4 |
57,883,044 (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 |
|
Posted On |
2014-01-21 |