Incidental Mutation 'R5292:Pakap'
ID |
405187 |
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 |
042875-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5292 (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 G
at 57855356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 471
(S471R)
|
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: S228R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: S228R
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: S228R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: S228R
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: S228R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729 AA Change: S228R
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: S228R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729 AA Change: S228R
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: S228R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: S228R
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 |
possibly damaging
Transcript: ENSMUST00000107600
AA Change: S269R
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: S269R
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 damaging
Transcript: ENSMUST00000150412
AA Change: S471R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: S471R
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,053,237 (GRCm39) |
|
probably null |
Het |
Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
Palmd |
T |
C |
3: 116,717,393 (GRCm39) |
E368G |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
Slc32a1 |
A |
G |
2: 158,453,307 (GRCm39) |
D49G |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
Synpo2 |
C |
A |
3: 122,907,709 (GRCm39) |
V536L |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
Het |
Zkscan5 |
G |
T |
5: 145,155,451 (GRCm39) |
C374F |
probably 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 |
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'- CTCACCACACTGAAGAAGGAGG -3'
(R):5'- CATCTAGGTGTTTGTGAGCAGC -3'
Sequencing Primer
(F):5'- AGGCCAAGTTTGAGCTGC -3'
(R):5'- GACGTGGACAGCTGCTG -3'
|
Posted On |
2016-07-22 |