Incidental Mutation 'IGL03343:Pakap'
| ID |
417354 |
| 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 # |
IGL03343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57688502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 115
(T115M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098066]
[ENSMUST00000102904]
[ENSMUST00000102905]
[ENSMUST00000126465]
[ENSMUST00000142556]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098066
AA Change: T115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945
AA Change: T115M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102904
AA Change: T115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: T115M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102905
AA Change: T115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: T115M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
376 |
5.8e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126465
AA Change: T115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945
AA Change: T115M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131201
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142556
AA Change: T115M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129817
Gene: ENSMUSG00000090053
AA Change: T115M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
136 |
8.7e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: T162M
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: T162M
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
| Arhgap30 |
C |
A |
1: 171,236,662 (GRCm39) |
T1012N |
probably damaging |
Het |
| Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
| Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
| Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,164,181 (GRCm39) |
F813L |
probably damaging |
Het |
| Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
| Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
| Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,483,312 (GRCm39) |
N82K |
probably damaging |
Het |
| Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
| Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
| Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
| Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
| Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
| Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
| Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,126 (GRCm39) |
Y570* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
| Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,270,853 (GRCm39) |
T645A |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
| Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation