Incidental Mutation 'R1228:Pakap'
| ID |
175025 |
| 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 |
| MMRRC Submission |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57856909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 787
(I787N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
[ENSMUST00000124581]
[ENSMUST00000126465]
[ENSMUST00000132497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043456
AA Change: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: I746N
| 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: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: I746N
| 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 damaging
Transcript: ENSMUST00000102902
AA Change: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: I746N
| 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: ENSMUST00000102903
AA Change: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: I746N
| 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: I746N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: I746N
| 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: I787N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: I787N
| 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: I989N
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: I989N
| 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: ENSMUST00000126465
|
| SMART Domains |
Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132497
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
| Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
| Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
| Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,242 (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 |
|
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'- GTCCAGTCAACATGGAAGAGACCAG -3'
(R):5'- AGGAGCCCTCATATCCACTGAGAAC -3'
Sequencing Primer
(F):5'- AGCAAGTATTCAGAGGCAGC -3'
(R):5'- TGAACGGAGTCACTTTCCCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation