Incidental Mutation 'IGL01733:Pakap'
ID |
105581 |
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 # |
IGL01733
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57856488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 606
(V606L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
[ENSMUST00000124581]
[ENSMUST00000132497]
[ENSMUST00000126465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043456
AA Change: V606L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: V606L
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 benign
Transcript: ENSMUST00000098064
AA Change: V606L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: V606L
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 |
noncoding transcript
Transcript: ENSMUST00000098065
|
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
AA Change: V606L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729 AA Change: V606L
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
AA Change: V606L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729 AA Change: V606L
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: ENSMUST00000107598
AA Change: V606L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: V606L
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: ENSMUST00000107600
AA Change: V647L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: V647L
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: V849L
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: V849L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124581
|
SMART Domains |
Protein: ENSMUSP00000119742 Gene: ENSMUSG00000038729
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132497
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126465
|
SMART Domains |
Protein: ENSMUSP00000130230 Gene: ENSMUSG00000089945
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably 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 |
IGL01647:Pakap
|
APN |
4 |
57,688,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |