Incidental Mutation 'R4600:Pakap'
ID |
345499 |
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: 0.107)
|
Stock # |
R4600 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57709954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 300
(T300S)
|
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 |
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: ENSMUST00000102904
AA Change: T300S
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099968 Gene: ENSMUSG00000090053 AA Change: T300S
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102905
AA Change: T300S
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099969 Gene: ENSMUSG00000090053 AA Change: T300S
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
376 |
5.8e-109 |
PFAM |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131201
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142556
|
SMART Domains |
Protein: ENSMUSP00000129817 Gene: ENSMUSG00000090053
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
136 |
8.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150412
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,195,037 (GRCm39) |
F145L |
possibly damaging |
Het |
Aars2 |
T |
A |
17: 45,827,847 (GRCm39) |
D555E |
probably damaging |
Het |
Ago1 |
C |
A |
4: 126,354,185 (GRCm39) |
M208I |
probably benign |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Amfr |
A |
G |
8: 94,700,849 (GRCm39) |
L537P |
probably damaging |
Het |
Apob |
A |
G |
12: 8,058,568 (GRCm39) |
D2317G |
probably damaging |
Het |
Asb6 |
T |
A |
2: 30,714,483 (GRCm39) |
D209V |
probably damaging |
Het |
AY358078 |
T |
A |
14: 52,063,532 (GRCm39) |
C393S |
possibly damaging |
Het |
Baz2a |
T |
A |
10: 127,957,052 (GRCm39) |
C932S |
probably damaging |
Het |
Btnl10 |
A |
G |
11: 58,814,426 (GRCm39) |
I369V |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Clic4 |
A |
T |
4: 134,966,300 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
G |
1: 90,709,626 (GRCm39) |
S1857P |
unknown |
Het |
Cracr2a |
A |
C |
6: 127,580,851 (GRCm39) |
D9A |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,455,783 (GRCm39) |
R610G |
possibly damaging |
Het |
Dcst1 |
T |
C |
3: 89,263,643 (GRCm39) |
E384G |
probably benign |
Het |
Ddx4 |
T |
C |
13: 112,748,594 (GRCm39) |
K435E |
probably damaging |
Het |
Deaf1 |
T |
A |
7: 140,890,884 (GRCm39) |
T433S |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,689,169 (GRCm39) |
M82L |
probably benign |
Het |
Dnhd1 |
G |
T |
7: 105,352,851 (GRCm39) |
R2668L |
probably damaging |
Het |
Efcab6 |
C |
T |
15: 83,831,126 (GRCm39) |
G596D |
probably benign |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Fam181b |
C |
A |
7: 92,729,992 (GRCm39) |
A255E |
possibly damaging |
Het |
Fam83e |
T |
A |
7: 45,372,924 (GRCm39) |
D178E |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
Gm16494 |
T |
A |
17: 47,327,723 (GRCm39) |
K54* |
probably null |
Het |
Golgb1 |
A |
G |
16: 36,738,987 (GRCm39) |
D2442G |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,553,705 (GRCm39) |
A1569T |
probably damaging |
Het |
Grik5 |
C |
G |
7: 24,767,489 (GRCm39) |
E64Q |
probably damaging |
Het |
Gstm5 |
A |
G |
3: 107,805,302 (GRCm39) |
Y130C |
probably damaging |
Het |
Gucy2e |
C |
G |
11: 69,126,994 (GRCm39) |
A160P |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,293,582 (GRCm39) |
T3510S |
probably benign |
Het |
Ift70a1 |
T |
C |
2: 75,810,977 (GRCm39) |
T369A |
probably benign |
Het |
Itgb2 |
A |
G |
10: 77,381,949 (GRCm39) |
I84V |
probably benign |
Het |
Itsn1 |
A |
G |
16: 91,696,475 (GRCm39) |
Q26R |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,429,327 (GRCm39) |
S1561G |
probably benign |
Het |
Khnyn |
G |
A |
14: 56,124,438 (GRCm39) |
V231I |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,075,602 (GRCm39) |
D243G |
probably benign |
Het |
Klk4 |
T |
A |
7: 43,534,762 (GRCm39) |
N240K |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,025 (GRCm39) |
S909P |
possibly damaging |
Het |
Lamb1 |
A |
C |
12: 31,373,528 (GRCm39) |
D1419A |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,508,759 (GRCm39) |
V421D |
probably damaging |
Het |
Lipt2 |
T |
C |
7: 99,809,519 (GRCm39) |
L202P |
probably benign |
Het |
Mbd5 |
T |
G |
2: 49,147,209 (GRCm39) |
M473R |
probably benign |
Het |
Mcc |
A |
T |
18: 44,652,587 (GRCm39) |
I279N |
probably damaging |
Het |
Mcpt9 |
C |
T |
14: 56,266,049 (GRCm39) |
V60M |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mylk2 |
G |
A |
2: 152,759,476 (GRCm39) |
V389M |
probably damaging |
Het |
Ndufs7 |
T |
A |
10: 80,092,501 (GRCm39) |
Y203* |
probably null |
Het |
Nup160 |
T |
A |
2: 90,515,541 (GRCm39) |
|
probably null |
Het |
Nup88 |
G |
A |
11: 70,860,522 (GRCm39) |
R62* |
probably null |
Het |
Or2g7 |
T |
C |
17: 38,378,853 (GRCm39) |
S264P |
probably damaging |
Het |
Or51af1 |
T |
A |
7: 103,141,788 (GRCm39) |
Q99L |
probably damaging |
Het |
Or6c207 |
G |
A |
10: 129,104,274 (GRCm39) |
A306V |
probably benign |
Het |
Or8b8 |
T |
A |
9: 37,809,622 (GRCm39) |
S307R |
probably benign |
Het |
Or8g33 |
A |
G |
9: 39,337,731 (GRCm39) |
M212T |
probably benign |
Het |
Os9 |
T |
C |
10: 126,934,223 (GRCm39) |
N471S |
probably benign |
Het |
Otof |
C |
T |
5: 30,529,244 (GRCm39) |
V1757M |
probably damaging |
Het |
Pald1 |
T |
C |
10: 61,184,395 (GRCm39) |
T241A |
probably benign |
Het |
Pappa2 |
G |
A |
1: 158,642,015 (GRCm39) |
S1347L |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,916,832 (GRCm39) |
T27A |
probably benign |
Het |
Pde4dip |
A |
T |
3: 97,603,260 (GRCm39) |
V2243D |
probably damaging |
Het |
Pkd2l2 |
C |
A |
18: 34,571,254 (GRCm39) |
Q590K |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,070,120 (GRCm39) |
P145L |
possibly damaging |
Het |
Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
Rnf133 |
T |
C |
6: 23,649,041 (GRCm39) |
E296G |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
Slc46a2 |
C |
T |
4: 59,911,886 (GRCm39) |
C442Y |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,278,869 (GRCm39) |
L301P |
probably damaging |
Het |
Spg21 |
A |
G |
9: 65,383,257 (GRCm39) |
T148A |
probably benign |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Sult1c2 |
C |
A |
17: 54,280,983 (GRCm39) |
W40L |
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,024,977 (GRCm39) |
S322P |
probably benign |
Het |
Telo2 |
C |
A |
17: 25,324,122 (GRCm39) |
R531L |
possibly damaging |
Het |
Thbs3 |
T |
C |
3: 89,131,897 (GRCm39) |
V719A |
probably damaging |
Het |
Tlr9 |
T |
A |
9: 106,101,732 (GRCm39) |
L341Q |
probably damaging |
Het |
Tmprss5 |
A |
G |
9: 49,024,548 (GRCm39) |
N230D |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpo |
C |
T |
12: 30,148,228 (GRCm39) |
V558M |
probably benign |
Het |
Trex1 |
T |
G |
9: 108,887,352 (GRCm39) |
Q213P |
possibly damaging |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Ugt1a6a |
A |
G |
1: 88,066,586 (GRCm39) |
K131E |
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,494,202 (GRCm39) |
|
probably null |
Het |
Vmn1r22 |
T |
C |
6: 57,877,860 (GRCm39) |
D39G |
probably damaging |
Het |
Vmn2r58 |
A |
T |
7: 41,522,046 (GRCm39) |
C17S |
probably benign |
Het |
Vps41 |
T |
C |
13: 18,929,453 (GRCm39) |
Y63H |
probably damaging |
Het |
Xdh |
G |
T |
17: 74,217,195 (GRCm39) |
T691N |
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,830,970 (GRCm39) |
N345S |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,267,918 (GRCm39) |
K499N |
probably damaging |
Het |
Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
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 |
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 |
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'- CACATGCTCTGCAAAGAGGC -3'
(R):5'- GTCACATGACAACACAGCATTG -3'
Sequencing Primer
(F):5'- CTCTGCAAAGAGGCCAAGTTAG -3'
(R):5'- ACAGCATTGACAGCGCTTTTTC -3'
|
Posted On |
2015-09-25 |