Incidental Mutation 'R7269:Pakap'
| ID |
565131 |
| 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 |
045320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57855217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 182
(R182L)
|
| 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: R182L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: R182L
| 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: R182L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: R182L
| 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: R182L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: R182L
| 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: R182L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: R182L
| 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: R182L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: R182L
| 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: R223L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: R223L
| 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 |
possibly damaging
Transcript: ENSMUST00000150412
AA Change: R425L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: R425L
| 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 |
|
| Meta Mutation Damage Score |
0.2727 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (85/87) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
T |
18: 24,606,013 (GRCm39) |
N36I |
probably damaging |
Het |
| A430033K04Rik |
T |
A |
5: 138,645,014 (GRCm39) |
Y300N |
possibly damaging |
Het |
| Adipor2 |
T |
C |
6: 119,347,205 (GRCm39) |
Q26R |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,983,981 (GRCm39) |
M1755K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| AI837181 |
C |
A |
19: 5,476,462 (GRCm39) |
S208R |
probably damaging |
Het |
| Arhgap35 |
T |
G |
7: 16,295,652 (GRCm39) |
M1138L |
probably benign |
Het |
| Card14 |
T |
G |
11: 119,228,573 (GRCm39) |
L633R |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,352 (GRCm39) |
T144A |
probably benign |
Het |
| Cbfa2t2 |
T |
A |
2: 154,357,895 (GRCm39) |
N223K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,884,254 (GRCm39) |
I363V |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccpg1 |
G |
T |
9: 72,920,609 (GRCm39) |
R741S |
probably benign |
Het |
| Cenpc1 |
A |
G |
5: 86,161,366 (GRCm39) |
F855L |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,180,277 (GRCm39) |
M665K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,037,641 (GRCm39) |
H832R |
probably damaging |
Het |
| Defa24 |
A |
G |
8: 22,224,565 (GRCm39) |
I5V |
probably benign |
Het |
| Dlc1 |
A |
C |
8: 37,046,407 (GRCm39) |
L730R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,668,351 (GRCm39) |
I536F |
unknown |
Het |
| Dscam |
G |
A |
16: 96,479,601 (GRCm39) |
T1182I |
probably benign |
Het |
| Eea1 |
A |
T |
10: 95,854,000 (GRCm39) |
I553F |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,160,654 (GRCm39) |
V400A |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,580,880 (GRCm39) |
S126T |
probably benign |
Het |
| Frmpd2 |
A |
T |
14: 33,244,838 (GRCm39) |
E552V |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,237 (GRCm39) |
T562S |
probably benign |
Het |
| Gm5475 |
T |
C |
15: 100,324,890 (GRCm39) |
F106S |
unknown |
Het |
| Gpr12 |
T |
C |
5: 146,520,188 (GRCm39) |
T245A |
probably damaging |
Het |
| Gsta2 |
A |
G |
9: 78,239,419 (GRCm39) |
Y166H |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,067,369 (GRCm39) |
V347A |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,475,977 (GRCm39) |
T100A |
probably benign |
Het |
| Ift70b |
A |
G |
2: 75,767,838 (GRCm39) |
F305S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 115,023,225 (GRCm39) |
W59* |
probably null |
Het |
| Knstrn |
T |
A |
2: 118,661,869 (GRCm39) |
|
probably null |
Het |
| Kprp |
A |
G |
3: 92,731,178 (GRCm39) |
V624A |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,194,771 (GRCm39) |
Y591C |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,126,666 (GRCm39) |
V842A |
unknown |
Het |
| Mboat2 |
A |
T |
12: 24,881,708 (GRCm39) |
T4S |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,288 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,218,898 (GRCm39) |
M515L |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,411,272 (GRCm39) |
D1406G |
unknown |
Het |
| Mylk |
G |
A |
16: 34,605,381 (GRCm39) |
G3D |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
| Nemp1 |
G |
T |
10: 127,531,345 (GRCm39) |
R361L |
probably damaging |
Het |
| Nol4 |
A |
C |
18: 23,172,846 (GRCm39) |
V85G |
probably benign |
Het |
| Nrbf2 |
G |
A |
10: 67,103,605 (GRCm39) |
T166M |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,933,838 (GRCm39) |
E5342G |
probably damaging |
Het |
| Or10al7 |
C |
A |
17: 38,366,442 (GRCm39) |
C5F |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,905 (GRCm39) |
F205Y |
probably damaging |
Het |
| Or4p19 |
C |
T |
2: 88,242,839 (GRCm39) |
M54I |
possibly damaging |
Het |
| Or51d1 |
T |
G |
7: 102,348,252 (GRCm39) |
L269R |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,631 (GRCm39) |
N42S |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,674,275 (GRCm39) |
S214P |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,116,393 (GRCm39) |
C278* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,079,125 (GRCm39) |
L62P |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,780,447 (GRCm39) |
G126W |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,801,353 (GRCm39) |
K567E |
probably damaging |
Het |
| Pradc1 |
T |
A |
6: 85,424,548 (GRCm39) |
Q134L |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,012,170 (GRCm39) |
F628L |
probably benign |
Het |
| Rab5c |
C |
T |
11: 100,606,928 (GRCm39) |
G217D |
probably benign |
Het |
| Rad51ap2 |
G |
T |
12: 11,506,807 (GRCm39) |
S243I |
possibly damaging |
Het |
| Rasgrp4 |
C |
A |
7: 28,847,855 (GRCm39) |
R432S |
probably damaging |
Het |
| Rhot2 |
C |
T |
17: 26,061,402 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,113 (GRCm39) |
L1654Q |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,711,686 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
| Slc25a24 |
G |
T |
3: 109,065,960 (GRCm39) |
Q272H |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,339,873 (GRCm39) |
I144F |
probably damaging |
Het |
| Smg9 |
C |
T |
7: 24,105,495 (GRCm39) |
R176C |
possibly damaging |
Het |
| Sorl1 |
A |
T |
9: 41,948,499 (GRCm39) |
L762Q |
probably damaging |
Het |
| Srebf2 |
C |
A |
15: 82,088,270 (GRCm39) |
P1079T |
probably benign |
Het |
| Sub1 |
A |
T |
15: 11,993,937 (GRCm39) |
S4T |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,469,692 (GRCm39) |
Y192F |
probably benign |
Het |
| Tm4sf19 |
A |
T |
16: 32,224,814 (GRCm39) |
H54L |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,914,428 (GRCm39) |
L1838P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,333,539 (GRCm39) |
S681P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,738,176 (GRCm39) |
V4167A |
unknown |
Het |
| Unc13d |
T |
A |
11: 115,959,056 (GRCm39) |
M702L |
probably benign |
Het |
| Vgll3 |
A |
G |
16: 65,636,404 (GRCm39) |
H240R |
probably benign |
Het |
| Vmn1r189 |
C |
G |
13: 22,286,737 (GRCm39) |
W33C |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,576,337 (GRCm39) |
A403T |
possibly damaging |
Het |
| Vmn2r2 |
G |
A |
3: 64,033,998 (GRCm39) |
T508I |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,670 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
G |
A |
5: 37,125,134 (GRCm39) |
Q586* |
probably null |
Het |
| Zbp1 |
A |
T |
2: 173,055,665 (GRCm39) |
H166Q |
unknown |
Het |
| Zcchc3 |
G |
A |
2: 152,256,294 (GRCm39) |
A135V |
probably benign |
Het |
| Zfp51 |
T |
C |
17: 21,683,960 (GRCm39) |
Y192H |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,088,994 (GRCm39) |
T426A |
probably benign |
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 |
|
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'- CACTGAGAAAGCATCCGGTAGG -3'
(R):5'- GCGATGCCAGGATTCTTCTTC -3'
Sequencing Primer
(F):5'- TCCTCACATCGAGCTCAGTAG -3'
(R):5'- TTCACAGCCTGACTCCGGATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation