Incidental Mutation 'R6792:Pakap'
| ID |
532628 |
| 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 |
044905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57855880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 403
(D403G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103224
(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 |
possibly damaging
Transcript: ENSMUST00000043456
AA Change: D403G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: D403G
| 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 |
possibly damaging
Transcript: ENSMUST00000098064
AA Change: D403G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: D403G
| 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: ENSMUST00000098066
|
| SMART Domains |
Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102902
AA Change: D403G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: D403G
| 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 |
possibly damaging
Transcript: ENSMUST00000102903
AA Change: D403G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: D403G
| 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 |
possibly damaging
Transcript: ENSMUST00000107598
AA Change: D403G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: D403G
| 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: D444G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: D444G
| 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: 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
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: D646G
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: D646G
| 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 |
|
| Meta Mutation Damage Score |
0.0607 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (51/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,718,712 (GRCm39) |
G64R |
probably damaging |
Het |
| Atp11a |
G |
A |
8: 12,911,939 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,955,993 (GRCm39) |
D52G |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,715 (GRCm39) |
|
probably null |
Het |
| Capg |
T |
A |
6: 72,532,537 (GRCm39) |
I34K |
possibly damaging |
Het |
| Card11 |
T |
A |
5: 140,899,064 (GRCm39) |
I37F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,235,740 (GRCm39) |
R724L |
unknown |
Het |
| Cryl1 |
T |
C |
14: 57,620,224 (GRCm39) |
E47G |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,150,424 (GRCm39) |
D70V |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,394,455 (GRCm39) |
E1949G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,449,437 (GRCm39) |
V1387A |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,617 (GRCm39) |
V1233M |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,286,940 (GRCm39) |
V861E |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,304,711 (GRCm39) |
D184E |
possibly damaging |
Het |
| Fkbp14 |
G |
T |
6: 54,562,837 (GRCm39) |
S49* |
probably null |
Het |
| Ginm1 |
T |
C |
10: 7,649,747 (GRCm39) |
D182G |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,603,588 (GRCm39) |
I417V |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
C |
T |
2: 16,155,567 (GRCm39) |
P1992L |
unknown |
Het |
| Mapk6 |
A |
T |
9: 75,302,830 (GRCm39) |
I221N |
probably damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,354 (GRCm39) |
V65A |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,775,923 (GRCm39) |
D805G |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,096 (GRCm39) |
E316G |
possibly damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,346 (GRCm39) |
I86T |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,283 (GRCm39) |
D296E |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,978 (GRCm39) |
H1588L |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,103,886 (GRCm39) |
K145R |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,310,065 (GRCm39) |
D418E |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,866,852 (GRCm39) |
R217M |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,922 (GRCm39) |
N232S |
probably damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 47,015,782 (GRCm39) |
S2P |
probably benign |
Het |
| Prr5l |
T |
G |
2: 101,547,769 (GRCm39) |
N252T |
probably benign |
Het |
| Rbmyf5 |
A |
G |
Y: 3,298,867 (GRCm39) |
Y206H |
possibly damaging |
Homo |
| Rilp |
A |
T |
11: 75,403,601 (GRCm39) |
K348* |
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,824,299 (GRCm39) |
E505G |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,929,309 (GRCm39) |
M1K |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 42,010,559 (GRCm39) |
V137E |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,597,993 (GRCm39) |
I270V |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,040,565 (GRCm39) |
A214T |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,312,051 (GRCm39) |
C321F |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,268 (GRCm39) |
D229E |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,993,547 (GRCm39) |
R692W |
probably benign |
Het |
| Tkfc |
T |
C |
19: 10,571,888 (GRCm39) |
T383A |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,846,287 (GRCm39) |
D43G |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 89,007,080 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
T |
17: 78,886,828 (GRCm39) |
Y152F |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,412 (GRCm39) |
M207K |
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 |
|
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 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTGGTCACTGAGCAGATTGAC -3'
(R):5'- CTTTGACTACAGTTAGGACGGC -3'
Sequencing Primer
(F):5'- CACTGAGCAGATTGACTTCTCGG -3'
(R):5'- CCCGGGCACTTGTGAACTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation