Incidental Mutation 'R9016:Pakap'
| ID |
685980 |
| 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 |
068846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R9016 (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 C
at 57637857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 12
(C12R)
|
| 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 benign
Transcript: ENSMUST00000102904
|
| SMART Domains |
Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102905
|
| SMART Domains |
Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
| 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 |
unknown
Transcript: ENSMUST00000150412
AA Change: C12R
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: C12R
| 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: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
C |
A |
18: 74,932,154 (GRCm39) |
S264R |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,694,188 (GRCm39) |
|
probably null |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Apob |
C |
T |
12: 8,035,408 (GRCm39) |
|
silent |
Het |
| Atg2a |
G |
C |
19: 6,300,111 (GRCm39) |
A640P |
probably damaging |
Het |
| AW209491 |
G |
A |
13: 14,812,193 (GRCm39) |
V349M |
probably damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,854,460 (GRCm39) |
T103I |
probably damaging |
Het |
| Btaf1 |
A |
C |
19: 36,971,705 (GRCm39) |
E1231D |
probably benign |
Het |
| Btbd7 |
T |
C |
12: 102,751,417 (GRCm39) |
R1116G |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,891,162 (GRCm39) |
M627K |
probably benign |
Het |
| Cdk7 |
G |
A |
13: 100,854,126 (GRCm39) |
T121I |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,522,438 (GRCm39) |
T1833S |
|
Het |
| Dapk3 |
A |
T |
10: 81,028,266 (GRCm39) |
R279W |
probably damaging |
Het |
| Dennd2b |
A |
C |
7: 109,139,642 (GRCm39) |
D645E |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,998,856 (GRCm39) |
E1064G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,226 (GRCm39) |
E75G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,847,855 (GRCm39) |
E229G |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,434 (GRCm39) |
A856T |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,306 (GRCm39) |
V46D |
probably damaging |
Het |
| Ffar3 |
T |
C |
7: 30,554,454 (GRCm39) |
R289G |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,243,136 (GRCm39) |
E1165K |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,783,923 (GRCm39) |
H809L |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,249,870 (GRCm39) |
E447V |
probably benign |
Het |
| Gja8 |
T |
C |
3: 96,827,521 (GRCm39) |
D47G |
probably damaging |
Het |
| Gm5795 |
A |
G |
14: 14,883,574 (GRCm39) |
K144E |
probably benign |
Het |
| Gm7298 |
A |
C |
6: 121,758,800 (GRCm39) |
Q1139H |
possibly damaging |
Het |
| Gpa33 |
A |
T |
1: 165,992,730 (GRCm39) |
Y281F |
probably damaging |
Het |
| H2-M10.5 |
G |
A |
17: 37,084,226 (GRCm39) |
E63K |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,823,956 (GRCm39) |
W718R |
probably damaging |
Het |
| Ifna5 |
C |
G |
4: 88,754,046 (GRCm39) |
D95E |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,201,073 (GRCm39) |
L438P |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,744,326 (GRCm39) |
T1479A |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,953,395 (GRCm39) |
R1263H |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,856,467 (GRCm39) |
T686A |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,163,294 (GRCm39) |
E1307V |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,651,062 (GRCm39) |
T1468S |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,775,427 (GRCm39) |
Q1013* |
probably null |
Het |
| Nckap5 |
T |
C |
1: 126,623,491 (GRCm39) |
M1V |
probably null |
Het |
| Nos3 |
G |
T |
5: 24,588,639 (GRCm39) |
V1122F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Odad1 |
T |
G |
7: 45,585,988 (GRCm39) |
C128W |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or52n4 |
A |
T |
7: 104,293,828 (GRCm39) |
C250* |
probably null |
Het |
| Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,385,304 (GRCm39) |
H132Q |
possibly damaging |
Het |
| Pde6b |
T |
A |
5: 108,536,592 (GRCm39) |
M96K |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,843,159 (GRCm39) |
L231Q |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,899 (GRCm39) |
I297V |
possibly damaging |
Het |
| Prrc2a |
G |
A |
17: 35,378,844 (GRCm39) |
T399I |
unknown |
Het |
| Rapsn |
A |
G |
2: 90,867,172 (GRCm39) |
D158G |
probably damaging |
Het |
| Rcor1 |
T |
A |
12: 111,047,933 (GRCm39) |
|
probably benign |
Het |
| Sema4d |
G |
T |
13: 51,867,794 (GRCm39) |
P186T |
probably damaging |
Het |
| Skic2 |
A |
C |
17: 35,063,640 (GRCm39) |
L601R |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,241 (GRCm38) |
R737Q |
probably damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Sox15 |
T |
G |
11: 69,546,529 (GRCm39) |
Y111D |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,200,938 (GRCm39) |
C2563Y |
probably damaging |
Het |
| Taf8 |
A |
T |
17: 47,807,527 (GRCm39) |
D153E |
probably damaging |
Het |
| Tet3 |
G |
A |
6: 83,345,253 (GRCm39) |
A1728V |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,737,778 (GRCm39) |
D427E |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,451 (GRCm39) |
I188T |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,331 (GRCm39) |
D535A |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Tnik |
G |
A |
3: 28,692,544 (GRCm39) |
G867R |
probably damaging |
Het |
| Uba3 |
A |
T |
6: 97,162,694 (GRCm39) |
C367* |
probably null |
Het |
| Vmn1r235 |
G |
T |
17: 21,481,969 (GRCm39) |
S98I |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,442,109 (GRCm39) |
E108G |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,462 (GRCm39) |
I127N |
probably benign |
Het |
| Zc3h18 |
G |
A |
8: 123,129,963 (GRCm39) |
R447Q |
unknown |
Het |
| Zcwpw1 |
C |
A |
5: 137,798,340 (GRCm39) |
P179Q |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,264 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp583 |
T |
C |
7: 6,320,404 (GRCm39) |
K203E |
probably benign |
Het |
| Zfp979 |
A |
G |
4: 147,697,504 (GRCm39) |
C402R |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
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 |
|
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 |
|
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'- TGTCTTCAAATTAGCCCTGCAC -3'
(R):5'- ACCTGTTCGTCAAGCTGTCG -3'
Sequencing Primer
(F):5'- TTAGCCCTGCACAACACAGAGAG -3'
(R):5'- GTTCGTCAAGCTGTCGTCTCTTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation