Incidental Mutation 'R7726:Pakap'
ID |
595484 |
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 |
045782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R7726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57709876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 274
(P274S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099968
(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 damaging
Transcript: ENSMUST00000102904
AA Change: P274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099968 Gene: ENSMUSG00000090053 AA Change: P274S
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102905
AA Change: P274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099969 Gene: ENSMUSG00000090053 AA Change: P274S
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
G |
8: 44,104,208 (GRCm39) |
N479T |
probably damaging |
Het |
Add3 |
C |
G |
19: 53,227,892 (GRCm39) |
L526V |
probably damaging |
Het |
Alas1 |
T |
C |
9: 106,124,150 (GRCm39) |
T3A |
probably benign |
Het |
Arap3 |
C |
T |
18: 38,122,520 (GRCm39) |
D579N |
probably damaging |
Het |
Armc6 |
C |
A |
8: 70,675,248 (GRCm39) |
D326Y |
probably damaging |
Het |
Atp6v1e2 |
G |
A |
17: 87,251,813 (GRCm39) |
T195I |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,690,504 (GRCm39) |
E904G |
probably damaging |
Het |
Bhlhe40 |
T |
A |
6: 108,639,559 (GRCm39) |
D112E |
probably benign |
Het |
Brf1 |
T |
G |
12: 112,927,865 (GRCm39) |
K438T |
probably benign |
Het |
Cabs1 |
A |
T |
5: 88,128,145 (GRCm39) |
E265D |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,429,071 (GRCm39) |
M1937L |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,339,230 (GRCm39) |
S299R |
possibly damaging |
Het |
Chordc1 |
A |
G |
9: 18,213,510 (GRCm39) |
*120W |
probably null |
Het |
Col17a1 |
C |
A |
19: 47,643,629 (GRCm39) |
|
probably null |
Het |
Cpne8 |
A |
T |
15: 90,385,621 (GRCm39) |
I469K |
possibly damaging |
Het |
Crtac1 |
G |
T |
19: 42,290,690 (GRCm39) |
S337* |
probably null |
Het |
Cx3cl1 |
T |
C |
8: 95,506,867 (GRCm39) |
S291P |
probably damaging |
Het |
Dhx36 |
G |
T |
3: 62,396,389 (GRCm39) |
Q423K |
probably benign |
Het |
Eif3h |
G |
T |
15: 51,650,219 (GRCm39) |
Q322K |
possibly damaging |
Het |
Ero1b |
A |
G |
13: 12,620,722 (GRCm39) |
*494W |
probably null |
Het |
Exph5 |
G |
A |
9: 53,284,475 (GRCm39) |
V519I |
possibly damaging |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam222b |
A |
G |
11: 78,044,577 (GRCm39) |
D46G |
probably damaging |
Het |
Fbxl6 |
C |
A |
15: 76,420,086 (GRCm39) |
R509L |
probably damaging |
Het |
Fgf14 |
T |
C |
14: 124,373,656 (GRCm39) |
Y86C |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,860,310 (GRCm39) |
I2119F |
probably benign |
Het |
Gpr37 |
G |
A |
6: 25,669,116 (GRCm39) |
T576I |
possibly damaging |
Het |
Hnrnpul2 |
G |
T |
19: 8,808,644 (GRCm39) |
R702L |
possibly damaging |
Het |
Iqgap1 |
T |
C |
7: 80,407,204 (GRCm39) |
N342S |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,908,401 (GRCm39) |
V339A |
probably benign |
Het |
Klk1b9 |
A |
T |
7: 43,627,840 (GRCm39) |
N46I |
possibly damaging |
Het |
Kndc1 |
C |
A |
7: 139,519,751 (GRCm39) |
S1703R |
possibly damaging |
Het |
Lyn |
C |
A |
4: 3,756,428 (GRCm39) |
Y306* |
probably null |
Het |
Manba |
C |
T |
3: 135,223,770 (GRCm39) |
T219M |
probably benign |
Het |
Mastl |
T |
C |
2: 23,030,807 (GRCm39) |
|
probably null |
Het |
Med15 |
T |
G |
16: 17,473,038 (GRCm39) |
M550L |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,312 (GRCm39) |
|
probably null |
Het |
Msh4 |
C |
T |
3: 153,571,957 (GRCm39) |
|
probably null |
Het |
Myh6 |
G |
T |
14: 55,202,822 (GRCm39) |
D32E |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,530,753 (GRCm39) |
C229R |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,569,544 (GRCm39) |
D419G |
possibly damaging |
Het |
Nup155 |
C |
T |
15: 8,151,623 (GRCm39) |
P393S |
probably damaging |
Het |
Or2y1d |
T |
A |
11: 49,321,727 (GRCm39) |
C141* |
probably null |
Het |
Or6b2b |
A |
T |
1: 92,419,029 (GRCm39) |
F149L |
probably benign |
Het |
Papss2 |
A |
T |
19: 32,611,403 (GRCm39) |
|
probably null |
Het |
Pcdhgc3 |
T |
C |
18: 37,939,932 (GRCm39) |
V111A |
possibly damaging |
Het |
Pcnx2 |
C |
T |
8: 126,577,069 (GRCm39) |
V988I |
probably benign |
Het |
Pom121 |
C |
T |
5: 135,407,002 (GRCm39) |
G1178S |
probably damaging |
Het |
Prss33 |
A |
G |
17: 24,053,203 (GRCm39) |
C213R |
probably damaging |
Het |
Scap |
G |
A |
9: 110,207,435 (GRCm39) |
|
probably null |
Het |
Shfl |
T |
C |
9: 20,784,461 (GRCm39) |
Y182H |
possibly damaging |
Het |
Sirpb1c |
T |
A |
3: 15,902,550 (GRCm39) |
I10F |
possibly damaging |
Het |
Slc28a2b |
A |
G |
2: 122,317,214 (GRCm39) |
E25G |
probably damaging |
Het |
Spata31e2 |
C |
A |
1: 26,723,579 (GRCm39) |
A534S |
probably benign |
Het |
Spink5 |
T |
C |
18: 44,096,419 (GRCm39) |
L16P |
probably damaging |
Het |
Sting1 |
C |
T |
18: 35,868,318 (GRCm39) |
A261T |
probably damaging |
Het |
Stk4 |
T |
G |
2: 163,952,146 (GRCm39) |
M1R |
probably null |
Het |
Stub1 |
A |
T |
17: 26,050,106 (GRCm39) |
Y253* |
probably null |
Het |
Tasor |
C |
A |
14: 27,169,454 (GRCm39) |
N338K |
probably damaging |
Het |
Tbce |
A |
G |
13: 14,203,875 (GRCm39) |
V29A |
probably damaging |
Het |
Tchhl1 |
A |
G |
3: 93,379,065 (GRCm39) |
R590G |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,186,231 (GRCm39) |
P613L |
unknown |
Het |
Vmn2r3 |
G |
T |
3: 64,182,939 (GRCm39) |
C253* |
probably null |
Het |
Wfdc8 |
C |
A |
2: 164,441,906 (GRCm39) |
E215D |
possibly damaging |
Het |
Zfp874b |
T |
C |
13: 67,621,975 (GRCm39) |
D441G |
probably benign |
Het |
Zscan4d |
G |
T |
7: 10,899,169 (GRCm39) |
P36Q |
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 |
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 |
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'- ACGGAGTCCACAAATTAAGCG -3'
(R):5'- CCGTCGATTGTGGACACATC -3'
Sequencing Primer
(F):5'- GTCGAGCTTCAGAAGACACATGTC -3'
(R):5'- GGACACATCCGTCACTGTC -3'
|
Posted On |
2019-11-12 |