Incidental Mutation 'R7837:Pakap'
ID |
606035 |
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 |
045891-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R7837 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57855262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 197
(D197G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099967
(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 |
probably damaging
Transcript: ENSMUST00000043456
AA Change: D197G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: D197G
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: D197G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: D197G
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 |
probably damaging
Transcript: ENSMUST00000102902
AA Change: D197G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729 AA Change: D197G
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: D197G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729 AA Change: D197G
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: D197G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: D197G
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 damaging
Transcript: ENSMUST00000107600
AA Change: D238G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: D238G
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 |
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: D440G
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
C |
4: 144,344,547 (GRCm39) |
S108P |
probably damaging |
Het |
Acox3 |
A |
G |
5: 35,768,830 (GRCm39) |
|
probably null |
Het |
Adam22 |
T |
A |
5: 8,199,284 (GRCm39) |
|
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,167,915 (GRCm39) |
Y1007C |
probably damaging |
Het |
Anapc4 |
T |
A |
5: 53,016,550 (GRCm39) |
|
probably null |
Het |
Aoc1 |
T |
A |
6: 48,882,584 (GRCm39) |
Y153* |
probably null |
Het |
Armc1 |
A |
T |
3: 19,198,633 (GRCm39) |
I109N |
probably benign |
Het |
Bcl2 |
A |
C |
1: 106,471,086 (GRCm39) |
F207V |
possibly damaging |
Het |
Btd |
C |
A |
14: 31,388,784 (GRCm39) |
S168R |
possibly damaging |
Het |
Cage1 |
A |
T |
13: 38,206,381 (GRCm39) |
M488K |
not run |
Het |
Cemip2 |
T |
A |
19: 21,775,385 (GRCm39) |
D209E |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,796,185 (GRCm39) |
N224S |
probably benign |
Het |
Cln6 |
T |
C |
9: 62,756,330 (GRCm39) |
V81A |
|
Het |
Crispld1 |
T |
A |
1: 17,798,954 (GRCm39) |
V25E |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,518,176 (GRCm39) |
T1808A |
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
Dtx3l |
T |
A |
16: 35,751,896 (GRCm39) |
N675I |
probably damaging |
Het |
Dusp28 |
A |
G |
1: 92,835,405 (GRCm39) |
E163G |
probably benign |
Het |
Ecd |
A |
T |
14: 20,383,400 (GRCm39) |
F346L |
probably damaging |
Het |
F5 |
G |
A |
1: 164,014,363 (GRCm39) |
V545M |
probably damaging |
Het |
Gm19410 |
A |
T |
8: 36,276,134 (GRCm39) |
Y1597F |
possibly damaging |
Het |
Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
Gria2 |
A |
T |
3: 80,618,095 (GRCm39) |
N313K |
probably benign |
Het |
Igkv13-84 |
C |
T |
6: 68,916,793 (GRCm39) |
S30F |
possibly damaging |
Het |
Kcnh6 |
C |
A |
11: 105,924,636 (GRCm39) |
H867N |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,792 (GRCm39) |
Q196R |
possibly damaging |
Het |
Mbd4 |
T |
C |
6: 115,826,500 (GRCm39) |
N164D |
probably benign |
Het |
Mrgpra1 |
A |
T |
7: 46,985,076 (GRCm39) |
M201K |
possibly damaging |
Het |
Msh6 |
G |
A |
17: 88,292,094 (GRCm39) |
G283E |
probably damaging |
Het |
Msr1 |
C |
T |
8: 40,034,873 (GRCm39) |
C426Y |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,369,700 (GRCm39) |
H3149R |
possibly damaging |
Het |
Nr1i2 |
T |
C |
16: 38,074,146 (GRCm39) |
M156V |
probably benign |
Het |
Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
Or13a21 |
T |
C |
7: 139,999,234 (GRCm39) |
I151V |
probably benign |
Het |
Or4c102 |
A |
T |
2: 88,422,723 (GRCm39) |
I192F |
possibly damaging |
Het |
Or4k15b |
T |
A |
14: 50,272,033 (GRCm39) |
T276S |
probably damaging |
Het |
Or51ag1 |
A |
T |
7: 103,156,052 (GRCm39) |
C34S |
possibly damaging |
Het |
Pcnx4 |
C |
A |
12: 72,602,892 (GRCm39) |
L385M |
probably damaging |
Het |
Pgap4 |
A |
T |
4: 49,586,262 (GRCm39) |
M302K |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,366,976 (GRCm39) |
C197S |
probably damaging |
Het |
Rin3 |
A |
G |
12: 102,335,024 (GRCm39) |
T312A |
unknown |
Het |
Septin7 |
T |
A |
9: 25,199,531 (GRCm39) |
N143K |
possibly damaging |
Het |
Sgk2 |
A |
G |
2: 162,845,216 (GRCm39) |
K208E |
probably damaging |
Het |
Slc4a5 |
A |
T |
6: 83,238,539 (GRCm39) |
T236S |
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,088,832 (GRCm39) |
L810P |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,146 (GRCm39) |
S3468G |
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,201,300 (GRCm39) |
S169G |
probably benign |
Het |
Tex56 |
A |
T |
13: 35,128,359 (GRCm39) |
Q192L |
possibly damaging |
Het |
Tssk2 |
T |
C |
16: 17,716,615 (GRCm39) |
V6A |
possibly damaging |
Het |
Ttll4 |
A |
T |
1: 74,720,916 (GRCm39) |
|
probably null |
Het |
Ubr4 |
C |
T |
4: 139,120,462 (GRCm39) |
R296* |
probably null |
Het |
Wscd2 |
G |
T |
5: 113,710,394 (GRCm39) |
C306F |
probably damaging |
Het |
Zbtb43 |
C |
T |
2: 33,343,981 (GRCm39) |
G378R |
probably damaging |
Het |
Zdhhc12 |
A |
T |
2: 29,981,709 (GRCm39) |
V165E |
probably damaging |
Het |
Zfp59 |
GAAA |
GAAAAA |
7: 27,554,342 (GRCm39) |
|
probably null |
Het |
Zfp943 |
A |
T |
17: 22,211,346 (GRCm39) |
Y144F |
probably benign |
Het |
Zkscan8 |
T |
A |
13: 21,704,598 (GRCm39) |
N447I |
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 |
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 |
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'- TCACATCGAGCTCAGTAGAAGC -3'
(R):5'- GTCCAGCTGCTCCTCAATAG -3'
Sequencing Primer
(F):5'- GAGCTCAGTAGAAGCCCCTC -3'
(R):5'- CCTCAATAGTTTTCTCCTGGGG -3'
|
Posted On |
2019-12-20 |