Incidental Mutation 'R7744:Pakap'
| ID |
596726 |
| 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 |
045800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7744 (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 57709519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
| 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 damaging
Transcript: ENSMUST00000102904
AA Change: S155P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: S155P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paralemmin
|
66 |
376 |
8e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102905
AA Change: S155P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: S155P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,362 (GRCm39) |
I145V |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,522 (GRCm39) |
V354E |
possibly damaging |
Het |
| Bglap |
T |
C |
3: 88,290,958 (GRCm39) |
Y91C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,538 (GRCm39) |
S1219T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,449,800 (GRCm39) |
C562R |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,543 (GRCm39) |
V210A |
probably damaging |
Het |
| Eif3c |
C |
A |
7: 126,158,066 (GRCm39) |
G297W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,482,863 (GRCm39) |
H494R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,764,629 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,986,720 (GRCm39) |
C53F |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,799,156 (GRCm39) |
G609V |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,172,036 (GRCm39) |
D514G |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,278 (GRCm39) |
V271A |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,997 (GRCm39) |
K74R |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,319,752 (GRCm39) |
N349S |
probably benign |
Het |
| Isx |
T |
A |
8: 75,600,285 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,030,251 (GRCm39) |
F98Y |
probably damaging |
Het |
| Kif1b |
G |
C |
4: 149,321,532 (GRCm39) |
T1129R |
possibly damaging |
Het |
| Klra10 |
T |
A |
6: 130,249,724 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
T |
2: 4,996,253 (GRCm39) |
L870Q |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,693,829 (GRCm39) |
I280K |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,721,128 (GRCm39) |
R349Q |
possibly damaging |
Het |
| Mrpl10 |
C |
T |
11: 96,935,402 (GRCm39) |
T34I |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,496,392 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,877,548 (GRCm39) |
C400R |
unknown |
Het |
| Nbr1 |
C |
T |
11: 101,460,210 (GRCm39) |
T402M |
probably damaging |
Het |
| Ndufs1 |
A |
G |
1: 63,200,099 (GRCm39) |
M271T |
possibly damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,419 (GRCm39) |
*316W |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,740,003 (GRCm39) |
V245I |
possibly damaging |
Het |
| Or51f23c-ps1 |
G |
T |
7: 102,431,597 (GRCm39) |
V305L |
probably benign |
Het |
| Pced1a |
C |
T |
2: 130,263,972 (GRCm39) |
D227N |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,689,070 (GRCm39) |
I152T |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,736,853 (GRCm39) |
V430A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,594,244 (GRCm39) |
E335G |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,608,899 (GRCm39) |
V403M |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,581,677 (GRCm39) |
N642K |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,113,389 (GRCm39) |
I123T |
probably benign |
Het |
| Rab3il1 |
T |
A |
19: 10,005,641 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,898,866 (GRCm39) |
K191R |
probably benign |
Het |
| Rnf223 |
G |
A |
4: 156,216,982 (GRCm39) |
R119H |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,263,508 (GRCm39) |
P217S |
unknown |
Het |
| Setd7 |
C |
T |
3: 51,434,261 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
A |
C |
15: 78,794,209 (GRCm39) |
T526P |
possibly damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,085,767 (GRCm39) |
W382L |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,513,464 (GRCm39) |
|
probably null |
Het |
| Tmem129 |
A |
G |
5: 33,811,732 (GRCm39) |
L356P |
probably damaging |
Het |
| Trib1 |
T |
A |
15: 59,526,512 (GRCm39) |
Y361N |
probably benign |
Het |
| Xirp1 |
T |
A |
9: 119,845,912 (GRCm39) |
R990S |
possibly damaging |
Het |
| Zfp950 |
A |
C |
19: 61,116,010 (GRCm39) |
|
probably null |
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 |
|
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'- ACACTTAGGATGCTTGGTGG -3'
(R):5'- GCAGAGCATGTGTTCCTTGG -3'
Sequencing Primer
(F):5'- TGCTTGGTGGTTACAATAGAAAG -3'
(R):5'- GACATGTGTCTTCTGAAGCTCGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation