Incidental Mutation 'R8702:Pakap'
| ID |
669107 |
| 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 |
068556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8702 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 57709489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 145
(Q145*)
|
| 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 null
Transcript: ENSMUST00000102904
AA Change: Q145*
|
| SMART Domains |
Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: Q145*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102905
AA Change: Q145*
|
| SMART Domains |
Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: Q145*
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,297,415 (GRCm39) |
R501G |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 77,985,732 (GRCm39) |
F712L |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 14,992,638 (GRCm39) |
A292E |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 146,042,710 (GRCm39) |
I1161T |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,152,674 (GRCm39) |
Y179H |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,688,700 (GRCm39) |
T1348S |
unknown |
Het |
| Dck |
T |
A |
5: 88,926,272 (GRCm39) |
N239K |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,399,998 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,872,291 (GRCm39) |
Q235K |
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,861,310 (GRCm39) |
W1952L |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,704,529 (GRCm39) |
K47E |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,015 (GRCm39) |
Y327N |
probably damaging |
Het |
| Grxcr2 |
T |
C |
18: 42,131,754 (GRCm39) |
D105G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,461,914 (GRCm39) |
L506H |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,127 (GRCm39) |
T214A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,482,750 (GRCm39) |
C1440S |
probably damaging |
Het |
| Lrrtm2 |
G |
T |
18: 35,346,018 (GRCm39) |
A428D |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,085,717 (GRCm39) |
Y5506C |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,966,589 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,839 (GRCm39) |
F258L |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
| Pecr |
G |
T |
1: 72,306,661 (GRCm39) |
Q207K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,714,465 (GRCm39) |
Y2396* |
probably null |
Het |
| Serbp1 |
G |
T |
6: 67,244,156 (GRCm39) |
D26Y |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,619,701 (GRCm39) |
S109T |
probably benign |
Het |
| Tpd52l2 |
C |
T |
2: 181,143,749 (GRCm39) |
H73Y |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,057,103 (GRCm39) |
W594L |
unknown |
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 |
|
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 |
|
|
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'- ACACTTAGGATGCTTGGTGG -3'
(R):5'- CAGAGCATGTGTTCCTTGGG -3'
Sequencing Primer
(F):5'- TGCTTGGTGGTTACAATAGAAAG -3'
(R):5'- GACATGTGTCTTCTGAAGCTCGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation