Incidental Mutation 'R5135:Pakap'
ID |
396111 |
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 |
043261-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57855912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 414
(A414S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
[ENSMUST00000132497]
[ENSMUST00000124581]
[ENSMUST00000126465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043456
AA Change: A414S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: A414S
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 benign
Transcript: ENSMUST00000098064
AA Change: A414S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: A414S
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 |
noncoding transcript
Transcript: ENSMUST00000098065
|
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: ENSMUST00000102902
AA Change: A414S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729 AA Change: A414S
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 benign
Transcript: ENSMUST00000102903
AA Change: A414S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729 AA Change: A414S
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 benign
Transcript: ENSMUST00000107598
AA Change: A414S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: A414S
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: ENSMUST00000107600
AA Change: A455S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: A455S
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 |
unknown
Transcript: ENSMUST00000150412
AA Change: A657S
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: A657S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132497
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (82/84) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
T |
C |
1: 183,765,703 (GRCm39) |
S119G |
probably benign |
Het |
4930553M12Rik |
G |
T |
4: 88,786,508 (GRCm39) |
H37N |
unknown |
Het |
Adam10 |
T |
A |
9: 70,673,356 (GRCm39) |
C496S |
probably damaging |
Het |
Aldh18a1 |
A |
C |
19: 40,543,261 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
G |
6: 116,390,747 (GRCm39) |
F468S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,509,952 (GRCm39) |
H805R |
probably damaging |
Het |
Ap2s1 |
T |
A |
7: 16,481,248 (GRCm39) |
D72E |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,895,956 (GRCm39) |
Y372C |
probably damaging |
Het |
Apob |
C |
T |
12: 8,060,086 (GRCm39) |
T2823I |
probably damaging |
Het |
Bhmt |
A |
G |
13: 93,763,831 (GRCm39) |
V70A |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,625,217 (GRCm39) |
I48T |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,370,648 (GRCm39) |
L1247H |
probably damaging |
Het |
Cel |
A |
G |
2: 28,449,435 (GRCm39) |
V264A |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,305,975 (GRCm39) |
N2043S |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,660,707 (GRCm39) |
W706R |
probably damaging |
Het |
Col22a1 |
G |
T |
15: 71,671,186 (GRCm39) |
P1058Q |
unknown |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dhx30 |
T |
G |
9: 109,927,863 (GRCm39) |
R55S |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,637,122 (GRCm39) |
R452H |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,492,434 (GRCm39) |
D1191E |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,810,196 (GRCm39) |
I164N |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,252,773 (GRCm39) |
M436K |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,774 (GRCm39) |
Y268F |
probably damaging |
Het |
Evi2a |
G |
A |
11: 79,418,277 (GRCm39) |
T111M |
possibly damaging |
Het |
Fzd4 |
A |
G |
7: 89,056,709 (GRCm39) |
E252G |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,435 (GRCm39) |
V438A |
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm4846 |
T |
C |
1: 166,311,551 (GRCm39) |
D436G |
probably damaging |
Het |
Gm5414 |
T |
A |
15: 101,536,203 (GRCm39) |
I141F |
probably damaging |
Het |
Gm6185 |
T |
A |
1: 161,025,801 (GRCm39) |
|
noncoding transcript |
Het |
Grip2 |
T |
C |
6: 91,750,897 (GRCm39) |
E776G |
possibly damaging |
Het |
H2-Ob |
T |
A |
17: 34,462,490 (GRCm39) |
V160E |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,492,531 (GRCm39) |
|
probably benign |
Het |
Ighv2-1 |
A |
T |
12: 113,538,082 (GRCm39) |
|
probably benign |
Het |
Igkv4-92 |
A |
T |
6: 68,732,538 (GRCm39) |
C14S |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,360,878 (GRCm39) |
I993M |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,516,484 (GRCm39) |
|
probably benign |
Het |
Kitl |
T |
C |
10: 99,924,084 (GRCm39) |
|
probably null |
Het |
Klhl26 |
G |
T |
8: 70,905,368 (GRCm39) |
R100S |
probably benign |
Het |
Kpna4 |
C |
T |
3: 69,000,142 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
A |
2: 179,844,013 (GRCm39) |
N383Y |
possibly damaging |
Het |
Large1 |
T |
G |
8: 73,544,724 (GRCm39) |
I685L |
probably benign |
Het |
Larp4b |
A |
G |
13: 9,220,773 (GRCm39) |
E590G |
probably damaging |
Het |
Liph |
A |
T |
16: 21,774,915 (GRCm39) |
C425* |
probably null |
Het |
Lrrc31 |
A |
T |
3: 30,739,039 (GRCm39) |
C327* |
probably null |
Het |
Lrrc36 |
T |
C |
8: 106,190,530 (GRCm39) |
V733A |
probably benign |
Het |
Mmel1 |
T |
A |
4: 154,966,781 (GRCm39) |
I83K |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,526,114 (GRCm39) |
V885L |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,315,948 (GRCm39) |
N277K |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,391,406 (GRCm39) |
I485N |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,174,245 (GRCm39) |
Y687N |
possibly damaging |
Het |
Obscn |
A |
T |
11: 59,020,479 (GRCm39) |
V922E |
probably damaging |
Het |
Oc90 |
A |
G |
15: 65,755,679 (GRCm39) |
S223P |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4a80 |
A |
T |
2: 89,582,239 (GRCm39) |
L311H |
possibly damaging |
Het |
Or4e1 |
T |
C |
14: 52,701,311 (GRCm39) |
I52V |
probably benign |
Het |
Pdlim5 |
C |
T |
3: 142,010,126 (GRCm39) |
R174H |
probably benign |
Het |
Pex5l |
G |
T |
3: 33,009,980 (GRCm39) |
A386E |
probably damaging |
Het |
Plcxd1 |
T |
A |
5: 110,249,229 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
G |
4: 143,145,579 (GRCm39) |
S349R |
probably benign |
Het |
Prl8a1 |
A |
T |
13: 27,763,802 (GRCm39) |
|
probably null |
Het |
Ryr2 |
G |
T |
13: 11,677,016 (GRCm39) |
N3278K |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,406,090 (GRCm39) |
M324V |
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,451,793 (GRCm39) |
T143A |
probably benign |
Het |
Sec11a |
A |
T |
7: 80,572,812 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
G |
18: 47,424,239 (GRCm39) |
V223A |
probably damaging |
Het |
Serpinb6c |
A |
G |
13: 34,064,080 (GRCm39) |
V325A |
probably damaging |
Het |
Slc4a2 |
G |
A |
5: 24,635,125 (GRCm39) |
A177T |
possibly damaging |
Het |
Slc5a4a |
A |
G |
10: 75,983,428 (GRCm39) |
N22D |
unknown |
Het |
Stard13 |
C |
T |
5: 150,986,232 (GRCm39) |
W308* |
probably null |
Het |
Tanc2 |
C |
T |
11: 105,748,379 (GRCm39) |
L504F |
possibly damaging |
Het |
Tfap2e |
G |
T |
4: 126,614,337 (GRCm39) |
N282K |
probably damaging |
Het |
Usp36 |
G |
T |
11: 118,155,731 (GRCm39) |
T682K |
possibly damaging |
Het |
Zc3h11a |
T |
C |
1: 133,561,527 (GRCm39) |
T315A |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,419,118 (GRCm39) |
|
noncoding transcript |
Het |
Zfp1002 |
A |
T |
2: 150,097,410 (GRCm39) |
Y34* |
probably null |
Het |
Zfp663 |
A |
T |
2: 165,195,590 (GRCm39) |
C210S |
possibly damaging |
Het |
Zfp747 |
T |
C |
7: 126,973,566 (GRCm39) |
I201M |
probably damaging |
Het |
Zic4 |
C |
T |
9: 91,266,205 (GRCm39) |
T276M |
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 |
|
R5292:Pakap
|
UTSW |
4 |
57,855,356 (GRCm39) |
missense |
probably damaging |
0.98 |
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5420:Pakap
|
UTSW |
4 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
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'- TGTGGTCACTGAGCAGATTG -3'
(R):5'- TTTGACTACAGTTAGGACGGC -3'
Sequencing Primer
(F):5'- CACTGAGCAGATTGACTTCTCGG -3'
(R):5'- CCCGGGCACTTGTGAACTC -3'
|
Posted On |
2016-06-21 |