Incidental Mutation 'R0763:Pakap'
ID |
72498 |
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 |
038943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R0763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57688441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 95
(E95K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099969
(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: E95K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095674 Gene: ENSMUSG00000089945 AA Change: E95K
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102904
AA Change: E95K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099968 Gene: ENSMUSG00000090053 AA Change: E95K
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102905
AA Change: E95K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099969 Gene: ENSMUSG00000090053 AA Change: E95K
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
376 |
5.8e-109 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126465
AA Change: E95K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130230 Gene: ENSMUSG00000089945 AA Change: E95K
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: E95K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129817 Gene: ENSMUSG00000090053 AA Change: E95K
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
136 |
8.7e-11 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: E142K
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: E142K
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 |
0.2678 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
96% (52/54) |
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 |
Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGCAACAAAGTTGGATGCAC -3'
(R):5'- TGCCTCCTAATGAAGACAGGCCAC -3'
Sequencing Primer
(F):5'- TGCACAGGATACTCTGTAATGG -3'
(R):5'- tcacgacaacaggaggaac -3'
|
Posted On |
2013-09-30 |