Incidental Mutation 'IGL01123:Pakap'
| ID |
50940 |
| 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 # |
IGL01123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 57757627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 188
(Q188*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098066]
[ENSMUST00000107600]
[ENSMUST00000126465]
|
| AlphaFold |
no structure available at present |
| 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: ENSMUST00000107600
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
| 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 |
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 |
probably null
Transcript: ENSMUST00000150412
AA Change: Q188*
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: Q188*
| 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 |
noncoding transcript
Transcript: ENSMUST00000154462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158661
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
T |
10: 28,849,934 (GRCm39) |
D167E |
probably damaging |
Het |
| Aadat |
A |
T |
8: 60,979,648 (GRCm39) |
E170V |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,461,276 (GRCm39) |
E300G |
probably benign |
Het |
| Agbl3 |
C |
T |
6: 34,823,911 (GRCm39) |
Q859* |
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,665,118 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,803 (GRCm39) |
Q730K |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,206,616 (GRCm39) |
P13L |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,490 (GRCm39) |
T233S |
probably benign |
Het |
| Bnc1 |
G |
A |
7: 81,623,455 (GRCm39) |
Q591* |
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,185 (GRCm39) |
F856I |
probably damaging |
Het |
| CK137956 |
T |
A |
4: 127,829,643 (GRCm39) |
T558S |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,509 (GRCm39) |
V180I |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 17,584,944 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Dhx37 |
A |
G |
5: 125,496,152 (GRCm39) |
S769P |
possibly damaging |
Het |
| Diras1 |
T |
A |
10: 80,858,249 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,438 (GRCm39) |
W81R |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,011,418 (GRCm39) |
I2173L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Gabrq |
G |
A |
X: 71,880,439 (GRCm39) |
D311N |
probably benign |
Het |
| Isl2 |
G |
T |
9: 55,452,746 (GRCm39) |
G335C |
probably damaging |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,052 (GRCm39) |
V628A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,735,029 (GRCm39) |
M5378V |
unknown |
Het |
| Lrrc23 |
G |
T |
6: 124,755,782 (GRCm39) |
D75E |
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,677,322 (GRCm39) |
I177T |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,537,494 (GRCm39) |
S60P |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,946 (GRCm39) |
E278G |
probably benign |
Het |
| Nsun6 |
T |
C |
2: 15,053,789 (GRCm39) |
I7V |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,076 (GRCm39) |
S492T |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,420,560 (GRCm39) |
V287D |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,522,079 (GRCm39) |
F624Y |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,024,222 (GRCm39) |
T178A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,441,424 (GRCm39) |
N473S |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,996,905 (GRCm39) |
Y1256N |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,832,154 (GRCm39) |
N192S |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,660,265 (GRCm39) |
S6P |
possibly damaging |
Het |
| Sgca |
T |
A |
11: 94,863,113 (GRCm39) |
Q80L |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,661,879 (GRCm39) |
L1235P |
possibly damaging |
Het |
| Slc23a2 |
A |
C |
2: 131,898,736 (GRCm39) |
N600K |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,221 (GRCm39) |
T350A |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,294,921 (GRCm39) |
Y1227* |
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,479 (GRCm39) |
Y124C |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,913,845 (GRCm39) |
T416I |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,571 (GRCm39) |
W116R |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,765,851 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,629,030 (GRCm39) |
V1469A |
probably damaging |
Het |
|
| Other mutations in Pakap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation