Incidental Mutation 'R6983:Pakap'
ID |
542771 |
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 |
045090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R6983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57709973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 306
(V306D)
|
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 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: V306D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099968 Gene: ENSMUSG00000090053 AA Change: V306D
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102905
AA Change: V306D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099969 Gene: ENSMUSG00000090053 AA Change: V306D
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (65/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
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 |
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'- CACATGCTCTGCAAAGAGGC -3'
(R):5'- GTCACATGACAACACAGCATTG -3'
Sequencing Primer
(F):5'- TCCAGGAAAGATCAGTCTTCAG -3'
(R):5'- ACAGCATTGACAGCGCTTTTTC -3'
|
Posted On |
2018-11-28 |