Incidental Mutation 'R0630:Pappa2'
| ID |
57799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pappa2
|
| Ensembl Gene |
ENSMUSG00000073530 |
| Gene Name |
pappalysin 2 |
| Synonyms |
PAPP-A2, placenta-specific 3, pregnancy-associated plasma preproprotein-A2, pregnancy-associated plasma protein-E, PLAC3, Pappe |
| MMRRC Submission |
038819-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0630 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158539297-158788019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 158660343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1246
(D1246V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159861]
|
| AlphaFold |
E9PZ87 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159861
AA Change: D1246V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: D1246V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Laminin_G_3
|
271 |
440 |
1.2e-25 |
PFAM |
|
NL
|
572 |
614 |
2.81e-5 |
SMART |
|
Pfam:Peptidase_M43
|
669 |
832 |
1.5e-12 |
PFAM |
|
Blast:FN3
|
844 |
1103 |
1e-169 |
BLAST |
|
low complexity region
|
1130 |
1139 |
N/A |
INTRINSIC |
|
low complexity region
|
1361 |
1370 |
N/A |
INTRINSIC |
|
CCP
|
1394 |
1457 |
4.97e0 |
SMART |
|
CCP
|
1462 |
1519 |
4.81e-1 |
SMART |
|
CCP
|
1523 |
1588 |
2.58e-4 |
SMART |
|
CCP
|
1593 |
1644 |
1.13e0 |
SMART |
|
NL
|
1720 |
1757 |
2.66e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160206
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
97% (108/111) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile but display postnatal growth retardation that is more pronounced in females compared to males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,766,104 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,668,803 (GRCm39) |
N731K |
possibly damaging |
Het |
| Adgra1 |
A |
T |
7: 139,432,500 (GRCm39) |
K113* |
probably null |
Het |
| Adgrl2 |
T |
C |
3: 148,544,880 (GRCm39) |
I659M |
probably damaging |
Het |
| Adm |
G |
T |
7: 110,227,755 (GRCm39) |
R41L |
probably damaging |
Het |
| Aimp2 |
T |
C |
5: 143,843,419 (GRCm39) |
E97G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,376,480 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,760,684 (GRCm39) |
R809H |
probably damaging |
Het |
| Arsa |
T |
C |
15: 89,358,207 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,294,547 (GRCm39) |
A88S |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,442,922 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,118,842 (GRCm39) |
I100N |
possibly damaging |
Het |
| Camta2 |
G |
C |
11: 70,569,131 (GRCm39) |
L605V |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,274,440 (GRCm39) |
V388A |
possibly damaging |
Het |
| Cdk14 |
C |
T |
5: 5,185,422 (GRCm39) |
|
probably benign |
Het |
| Cdyl2 |
C |
T |
8: 117,350,774 (GRCm39) |
G119E |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,891 (GRCm39) |
N458S |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,238,021 (GRCm39) |
H1808Q |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 46,965,694 (GRCm39) |
V835A |
probably damaging |
Het |
| Col4a1 |
C |
A |
8: 11,249,889 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,486,171 (GRCm39) |
V357A |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,504,107 (GRCm39) |
|
probably benign |
Het |
| Cts8 |
T |
C |
13: 61,401,256 (GRCm39) |
K90R |
possibly damaging |
Het |
| Cux1 |
A |
G |
5: 136,315,689 (GRCm39) |
V1117A |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,282,444 (GRCm39) |
T254A |
probably damaging |
Het |
| Dgki |
C |
A |
6: 36,977,133 (GRCm39) |
C659F |
probably damaging |
Het |
| Dnajc1 |
T |
G |
2: 18,236,612 (GRCm39) |
D332A |
probably damaging |
Het |
| Dock8 |
C |
A |
19: 25,038,524 (GRCm39) |
T70K |
probably benign |
Het |
| Dsc1 |
T |
A |
18: 20,218,919 (GRCm39) |
T828S |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,232,531 (GRCm39) |
V3510G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,238,554 (GRCm39) |
V1738A |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,118,818 (GRCm39) |
T167A |
probably benign |
Het |
| Eri2 |
A |
T |
7: 119,385,640 (GRCm39) |
V287E |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,054,321 (GRCm39) |
L4121H |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,236,690 (GRCm39) |
D330V |
possibly damaging |
Het |
| Fign |
A |
G |
2: 63,810,485 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Fnd3c2 |
C |
T |
X: 105,282,763 (GRCm39) |
M593I |
probably benign |
Het |
| Fndc7 |
T |
A |
3: 108,783,931 (GRCm39) |
E226V |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,580,348 (GRCm39) |
Q583L |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,719,148 (GRCm39) |
A334T |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,336 (GRCm39) |
|
probably null |
Het |
| Gli2 |
C |
T |
1: 118,769,648 (GRCm39) |
G635R |
possibly damaging |
Het |
| Gm10253 |
T |
C |
3: 88,646,420 (GRCm39) |
E93G |
unknown |
Het |
| Gm10428 |
A |
G |
11: 62,644,256 (GRCm39) |
|
probably benign |
Het |
| Gm7104 |
T |
C |
12: 88,252,479 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
T |
G |
5: 104,924,385 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr107 |
A |
G |
2: 31,104,309 (GRCm39) |
N538S |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,442 (GRCm39) |
E190G |
probably damaging |
Het |
| Hoxc10 |
C |
T |
15: 102,875,917 (GRCm39) |
P209S |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,323,714 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,233,483 (GRCm39) |
W1750L |
probably damaging |
Het |
| Igsf5 |
C |
A |
16: 96,174,023 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,563,615 (GRCm39) |
|
probably benign |
Het |
| Ldhd |
T |
C |
8: 112,353,934 (GRCm39) |
K422R |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,169 (GRCm39) |
K693R |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,409,798 (GRCm39) |
|
probably benign |
Het |
| Mdm4 |
G |
A |
1: 132,919,491 (GRCm39) |
T459I |
possibly damaging |
Het |
| Megf10 |
A |
T |
18: 57,421,067 (GRCm39) |
I902F |
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,022,056 (GRCm39) |
N37S |
probably damaging |
Het |
| Mterf3 |
T |
A |
13: 67,060,372 (GRCm39) |
Y372F |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,465,102 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
C |
11: 101,457,913 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,355,720 (GRCm39) |
M103T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,366,446 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
A |
T |
4: 43,641,219 (GRCm39) |
E415V |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
| Or4k40 |
T |
C |
2: 111,251,191 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or52h9 |
G |
C |
7: 104,202,998 (GRCm39) |
V291L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,863,653 (GRCm39) |
M304K |
probably benign |
Het |
| Or8b50 |
T |
A |
9: 38,518,192 (GRCm39) |
F144I |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,954,931 (GRCm39) |
D735V |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,504,176 (GRCm39) |
Y622C |
possibly damaging |
Het |
| Plppr2 |
A |
G |
9: 21,859,197 (GRCm39) |
D438G |
probably benign |
Het |
| Ppfibp2 |
A |
T |
7: 107,337,806 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,638,907 (GRCm39) |
L77Q |
probably null |
Het |
| Prdm8 |
T |
C |
5: 98,332,380 (GRCm39) |
S94P |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,628,665 (GRCm39) |
Q3470L |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,384,674 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,688,076 (GRCm39) |
H206L |
probably benign |
Het |
| Rack1 |
G |
A |
11: 48,694,804 (GRCm39) |
|
probably benign |
Het |
| Rere |
T |
C |
4: 150,703,545 (GRCm39) |
L1509P |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,366 (GRCm39) |
L301Q |
probably damaging |
Het |
| Rgs6 |
T |
A |
12: 83,094,324 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,973 (GRCm39) |
R1613S |
probably damaging |
Het |
| Ripk1 |
T |
G |
13: 34,211,764 (GRCm39) |
F358C |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,093 (GRCm39) |
D1217G |
probably benign |
Het |
| Shc2 |
A |
T |
10: 79,461,975 (GRCm39) |
W357R |
probably null |
Het |
| Slc25a45 |
T |
C |
19: 5,930,556 (GRCm39) |
L81P |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,363,483 (GRCm39) |
|
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,083,909 (GRCm39) |
|
probably null |
Het |
| Stac3 |
A |
T |
10: 127,343,632 (GRCm39) |
E258V |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,536,603 (GRCm39) |
S1648P |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,583,064 (GRCm39) |
T222A |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,163,502 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,260,551 (GRCm39) |
S292P |
probably damaging |
Het |
| Trim38 |
T |
G |
13: 23,975,115 (GRCm39) |
Y351* |
probably null |
Het |
| Trip12 |
T |
C |
1: 84,771,636 (GRCm39) |
R213G |
possibly damaging |
Het |
| Vav3 |
C |
T |
3: 109,331,328 (GRCm39) |
R76W |
probably damaging |
Het |
| Vmn1r63 |
G |
T |
7: 5,806,263 (GRCm39) |
P123H |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,410,619 (GRCm39) |
N130S |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,156,212 (GRCm39) |
R27S |
probably damaging |
Het |
| Ykt6 |
G |
A |
11: 5,909,323 (GRCm39) |
S44N |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,957,207 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pappa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Pappa2
|
APN |
1 |
158,684,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Pappa2
|
APN |
1 |
158,592,674 (GRCm39) |
splice site |
probably benign |
|
|
IGL01570:Pappa2
|
APN |
1 |
158,642,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL01618:Pappa2
|
APN |
1 |
158,684,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01717:Pappa2
|
APN |
1 |
158,684,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01804:Pappa2
|
APN |
1 |
158,764,089 (GRCm39) |
missense |
probably benign |
|
|
IGL01904:Pappa2
|
APN |
1 |
158,611,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02116:Pappa2
|
APN |
1 |
158,672,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02174:Pappa2
|
APN |
1 |
158,589,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Pappa2
|
APN |
1 |
158,542,571 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02422:Pappa2
|
APN |
1 |
158,764,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02572:Pappa2
|
APN |
1 |
158,678,786 (GRCm39) |
missense |
probably benign |
|
|
IGL02659:Pappa2
|
APN |
1 |
158,764,364 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02887:Pappa2
|
APN |
1 |
158,609,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Pappa2
|
APN |
1 |
158,678,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03128:Pappa2
|
APN |
1 |
158,764,054 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03142:Pappa2
|
APN |
1 |
158,682,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03270:Pappa2
|
APN |
1 |
158,592,637 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Fritas
|
UTSW |
1 |
158,675,533 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Gulliver
|
UTSW |
1 |
158,684,706 (GRCm39) |
missense |
probably null |
1.00 |
|
Lilliputian
|
UTSW |
1 |
158,544,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lilliputian2
|
UTSW |
1 |
158,662,488 (GRCm39) |
nonsense |
probably null |
|
|
lilliputian3
|
UTSW |
1 |
158,609,973 (GRCm39) |
splice site |
probably null |
|
|
Pitzel
|
UTSW |
1 |
158,784,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
shrink
|
UTSW |
1 |
158,590,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Pappa2
|
UTSW |
1 |
158,542,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Pappa2
|
UTSW |
1 |
158,542,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Pappa2
|
UTSW |
1 |
158,682,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0194:Pappa2
|
UTSW |
1 |
158,592,671 (GRCm39) |
splice site |
probably benign |
|
|
R0418:Pappa2
|
UTSW |
1 |
158,544,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Pappa2
|
UTSW |
1 |
158,675,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Pappa2
|
UTSW |
1 |
158,590,628 (GRCm39) |
unclassified |
probably benign |
|
|
R0602:Pappa2
|
UTSW |
1 |
158,590,625 (GRCm39) |
unclassified |
probably benign |
|
|
R0760:Pappa2
|
UTSW |
1 |
158,544,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1146:Pappa2
|
UTSW |
1 |
158,682,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Pappa2
|
UTSW |
1 |
158,682,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1243:Pappa2
|
UTSW |
1 |
158,672,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Pappa2
|
UTSW |
1 |
158,764,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Pappa2
|
UTSW |
1 |
158,784,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pappa2
|
UTSW |
1 |
158,684,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Pappa2
|
UTSW |
1 |
158,784,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Pappa2
|
UTSW |
1 |
158,590,720 (GRCm39) |
nonsense |
probably null |
|
|
R1772:Pappa2
|
UTSW |
1 |
158,641,938 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1832:Pappa2
|
UTSW |
1 |
158,684,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Pappa2
|
UTSW |
1 |
158,631,073 (GRCm39) |
splice site |
probably null |
|
|
R1914:Pappa2
|
UTSW |
1 |
158,578,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2013:Pappa2
|
UTSW |
1 |
158,662,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Pappa2
|
UTSW |
1 |
158,784,214 (GRCm39) |
nonsense |
probably null |
|
|
R2118:Pappa2
|
UTSW |
1 |
158,684,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Pappa2
|
UTSW |
1 |
158,684,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Pappa2
|
UTSW |
1 |
158,684,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2347:Pappa2
|
UTSW |
1 |
158,592,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3024:Pappa2
|
UTSW |
1 |
158,763,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3706:Pappa2
|
UTSW |
1 |
158,662,488 (GRCm39) |
nonsense |
probably null |
|
|
R3707:Pappa2
|
UTSW |
1 |
158,662,488 (GRCm39) |
nonsense |
probably null |
|
|
R3708:Pappa2
|
UTSW |
1 |
158,662,488 (GRCm39) |
nonsense |
probably null |
|
|
R4600:Pappa2
|
UTSW |
1 |
158,642,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Pappa2
|
UTSW |
1 |
158,784,582 (GRCm39) |
missense |
probably benign |
|
|
R4738:Pappa2
|
UTSW |
1 |
158,784,582 (GRCm39) |
missense |
probably benign |
|
|
R4739:Pappa2
|
UTSW |
1 |
158,784,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4739:Pappa2
|
UTSW |
1 |
158,784,582 (GRCm39) |
missense |
probably benign |
|
|
R4788:Pappa2
|
UTSW |
1 |
158,611,487 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4798:Pappa2
|
UTSW |
1 |
158,684,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4952:Pappa2
|
UTSW |
1 |
158,684,706 (GRCm39) |
missense |
probably null |
1.00 |
|
R5121:Pappa2
|
UTSW |
1 |
158,666,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5144:Pappa2
|
UTSW |
1 |
158,784,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5159:Pappa2
|
UTSW |
1 |
158,589,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Pappa2
|
UTSW |
1 |
158,609,973 (GRCm39) |
splice site |
probably null |
|
|
R5428:Pappa2
|
UTSW |
1 |
158,642,355 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5452:Pappa2
|
UTSW |
1 |
158,666,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5477:Pappa2
|
UTSW |
1 |
158,784,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5504:Pappa2
|
UTSW |
1 |
158,675,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5852:Pappa2
|
UTSW |
1 |
158,544,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Pappa2
|
UTSW |
1 |
158,763,820 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6129:Pappa2
|
UTSW |
1 |
158,542,567 (GRCm39) |
nonsense |
probably null |
|
|
R6137:Pappa2
|
UTSW |
1 |
158,699,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Pappa2
|
UTSW |
1 |
158,784,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6472:Pappa2
|
UTSW |
1 |
158,662,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Pappa2
|
UTSW |
1 |
158,764,438 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7020:Pappa2
|
UTSW |
1 |
158,675,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7051:Pappa2
|
UTSW |
1 |
158,784,753 (GRCm39) |
missense |
unknown |
|
|
R7082:Pappa2
|
UTSW |
1 |
158,590,689 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7111:Pappa2
|
UTSW |
1 |
158,784,096 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7213:Pappa2
|
UTSW |
1 |
158,764,456 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7575:Pappa2
|
UTSW |
1 |
158,642,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Pappa2
|
UTSW |
1 |
158,678,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Pappa2
|
UTSW |
1 |
158,764,010 (GRCm39) |
nonsense |
probably null |
|
|
R7957:Pappa2
|
UTSW |
1 |
158,589,131 (GRCm39) |
nonsense |
probably null |
|
|
R8007:Pappa2
|
UTSW |
1 |
158,609,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8050:Pappa2
|
UTSW |
1 |
158,675,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Pappa2
|
UTSW |
1 |
158,764,126 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8068:Pappa2
|
UTSW |
1 |
158,763,555 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8128:Pappa2
|
UTSW |
1 |
158,764,234 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8264:Pappa2
|
UTSW |
1 |
158,682,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Pappa2
|
UTSW |
1 |
158,592,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Pappa2
|
UTSW |
1 |
158,764,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Pappa2
|
UTSW |
1 |
158,611,487 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8793:Pappa2
|
UTSW |
1 |
158,678,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Pappa2
|
UTSW |
1 |
158,590,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Pappa2
|
UTSW |
1 |
158,764,518 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9004:Pappa2
|
UTSW |
1 |
158,763,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Pappa2
|
UTSW |
1 |
158,763,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Pappa2
|
UTSW |
1 |
158,684,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Pappa2
|
UTSW |
1 |
158,763,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9280:Pappa2
|
UTSW |
1 |
158,675,533 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9301:Pappa2
|
UTSW |
1 |
158,672,614 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9306:Pappa2
|
UTSW |
1 |
158,764,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Pappa2
|
UTSW |
1 |
158,784,542 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9471:Pappa2
|
UTSW |
1 |
158,642,029 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9544:Pappa2
|
UTSW |
1 |
158,784,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9680:Pappa2
|
UTSW |
1 |
158,609,818 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9762:Pappa2
|
UTSW |
1 |
158,684,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Pappa2
|
UTSW |
1 |
158,675,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9776:Pappa2
|
UTSW |
1 |
158,611,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Pappa2
|
UTSW |
1 |
158,641,967 (GRCm39) |
missense |
probably null |
|
|
X0061:Pappa2
|
UTSW |
1 |
158,764,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Pappa2
|
UTSW |
1 |
158,784,503 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pappa2
|
UTSW |
1 |
158,642,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pappa2
|
UTSW |
1 |
158,642,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTTGCAATGCCACAGACAAAC -3'
(R):5'- TTCTTTGGGCATGGTCCCACAC -3'
Sequencing Primer
(F):5'- CAGCATAGTGGAGTCTTTGCAATAG -3'
(R):5'- CATCTTGAGGGTAACAGCATTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation