Incidental Mutation 'R2117:Prex2'
| ID |
231021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prex2
|
| Ensembl Gene |
ENSMUSG00000048960 |
| Gene Name |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
| Synonyms |
C030045D06Rik, 6230420N16Rik, Depdc2 |
| MMRRC Submission |
040121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R2117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
11063689-11373905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11256937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1216
(N1216K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027056]
|
| AlphaFold |
Q3LAC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027056
AA Change: N1216K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027056
Gene: ENSMUSG00000048960
AA Change: N1216K
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
19 |
205 |
8.61e-45 |
SMART |
|
PH
|
238 |
355 |
2.43e-12 |
SMART |
|
DEP
|
383 |
456 |
4.46e-26 |
SMART |
|
DEP
|
484 |
557 |
6.57e-15 |
SMART |
|
PDZ
|
593 |
666 |
9.62e-2 |
SMART |
|
PDZ
|
677 |
744 |
6.37e-8 |
SMART |
|
low complexity region
|
1112 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1507 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for gene trapped alleles may exhibit abnormal Purkinje cell dendrite morphology, a mild motor coordination defect that progressively worsens with age, hypoactivity, impaired glucose tolerance and/or insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,640,656 (GRCm39) |
C3357S |
probably benign |
Het |
| Ago1 |
T |
A |
4: 126,357,650 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,781,129 (GRCm39) |
D562E |
possibly damaging |
Het |
| Akr1b7 |
G |
A |
6: 34,395,929 (GRCm39) |
A144T |
possibly damaging |
Het |
| Ankle1 |
A |
G |
8: 71,860,562 (GRCm39) |
T340A |
probably benign |
Het |
| Arf5 |
C |
T |
6: 28,424,783 (GRCm39) |
Q71* |
probably null |
Het |
| Arl15 |
C |
T |
13: 114,104,196 (GRCm39) |
S111F |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,517,671 (GRCm39) |
Q468* |
probably null |
Het |
| Bcam |
G |
T |
7: 19,492,352 (GRCm39) |
A581E |
possibly damaging |
Het |
| Blvra |
G |
T |
2: 126,927,989 (GRCm39) |
E80* |
probably null |
Het |
| Ccr6 |
T |
C |
17: 8,474,914 (GRCm39) |
F40L |
possibly damaging |
Het |
| Cfap161 |
A |
T |
7: 83,425,184 (GRCm39) |
N302K |
possibly damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,003,964 (GRCm39) |
I345F |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,202,025 (GRCm39) |
|
probably benign |
Het |
| Ctnna1 |
A |
G |
18: 35,285,678 (GRCm39) |
N8S |
possibly damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,275,954 (GRCm39) |
L209P |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,465,096 (GRCm39) |
V628A |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,571 (GRCm39) |
Q327* |
probably null |
Het |
| Defb38 |
A |
T |
8: 19,073,483 (GRCm39) |
Y63* |
probably null |
Het |
| Dlg5 |
A |
T |
14: 24,227,826 (GRCm39) |
L365* |
probably null |
Het |
| Dnai7 |
C |
T |
6: 145,150,967 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
C |
A |
10: 77,899,130 (GRCm39) |
L110I |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,228,907 (GRCm39) |
L108F |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,324,760 (GRCm39) |
N351K |
possibly damaging |
Het |
| Fam83h |
C |
A |
15: 75,876,582 (GRCm39) |
E252* |
probably null |
Het |
| Fancm |
A |
G |
12: 65,123,948 (GRCm39) |
D202G |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,490,500 (GRCm39) |
V3804E |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,159,985 (GRCm39) |
T190A |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,881,038 (GRCm39) |
T843A |
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,391,450 (GRCm39) |
H461L |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,736,884 (GRCm39) |
M1276L |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,101,827 (GRCm39) |
V978A |
possibly damaging |
Het |
| Gm7247 |
A |
T |
14: 51,602,792 (GRCm39) |
I43F |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,322,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr4 |
T |
C |
7: 18,957,070 (GRCm39) |
S331P |
probably damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,455 (GRCm39) |
N483Y |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,515,496 (GRCm39) |
T138A |
probably benign |
Het |
| Ints14 |
T |
G |
9: 64,887,077 (GRCm39) |
L336R |
probably damaging |
Het |
| Irak1 |
G |
T |
X: 73,066,218 (GRCm39) |
P197Q |
possibly damaging |
Het |
| Kif4 |
A |
G |
X: 99,709,323 (GRCm39) |
S315G |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,801,990 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
G |
1: 193,016,489 (GRCm39) |
R657G |
probably benign |
Het |
| Ldc1 |
C |
A |
4: 130,109,156 (GRCm39) |
V295L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,313,729 (GRCm39) |
V2334G |
probably benign |
Het |
| Lrwd1 |
T |
A |
5: 136,159,332 (GRCm39) |
Y431F |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,650,781 (GRCm39) |
H261L |
probably benign |
Het |
| Meis1 |
G |
T |
11: 18,831,679 (GRCm39) |
P453Q |
probably damaging |
Het |
| Mettl16 |
G |
T |
11: 74,693,755 (GRCm39) |
M255I |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,167,380 (GRCm39) |
N435S |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,920,880 (GRCm39) |
I27T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,328 (GRCm39) |
I771V |
probably benign |
Het |
| Nisch |
A |
T |
14: 30,899,242 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
G |
A |
18: 12,329,613 (GRCm39) |
P990L |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 91,011,705 (GRCm39) |
I308K |
probably damaging |
Het |
| Or13l2 |
C |
A |
3: 97,317,765 (GRCm39) |
C244F |
probably damaging |
Het |
| Or1ad6 |
A |
T |
11: 50,860,147 (GRCm39) |
I101F |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,783 (GRCm39) |
L245P |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,694,779 (GRCm39) |
D823G |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,856,696 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pank1 |
T |
A |
19: 34,818,486 (GRCm39) |
I18F |
probably damaging |
Het |
| Pgap3 |
A |
G |
11: 98,281,933 (GRCm39) |
L126P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,336,858 (GRCm39) |
L259F |
possibly damaging |
Het |
| Phka1 |
C |
T |
X: 101,653,807 (GRCm39) |
R290H |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,631,042 (GRCm39) |
E489K |
probably damaging |
Het |
| Prdm16 |
T |
A |
4: 154,432,382 (GRCm39) |
S296C |
probably null |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 130,381,655 (GRCm39) |
R372L |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rap2b |
G |
T |
3: 61,272,512 (GRCm39) |
G12V |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,677,799 (GRCm39) |
|
probably null |
Het |
| Rassf4 |
A |
G |
6: 116,622,088 (GRCm39) |
F168S |
possibly damaging |
Het |
| Rtf1 |
T |
A |
2: 119,535,999 (GRCm39) |
H184Q |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,451,220 (GRCm39) |
K4422R |
probably benign |
Het |
| Sec11c |
A |
T |
18: 65,933,720 (GRCm39) |
T9S |
probably benign |
Het |
| Sema3d |
C |
T |
5: 12,613,240 (GRCm39) |
T439I |
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,351 (GRCm39) |
N243S |
probably benign |
Het |
| Setd2 |
TTGGGA |
T |
9: 110,433,212 (GRCm39) |
|
probably null |
Het |
| Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
| Slc22a7 |
C |
A |
17: 46,744,898 (GRCm39) |
V383L |
possibly damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,480,417 (GRCm39) |
C56R |
probably damaging |
Het |
| Stk38l |
T |
A |
6: 146,670,344 (GRCm39) |
L229I |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,359,359 (GRCm39) |
S112P |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,573,520 (GRCm39) |
Y332H |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,965,857 (GRCm39) |
E415G |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,681 (GRCm39) |
L1951P |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,102,536 (GRCm39) |
N609S |
probably damaging |
Het |
| Tmem120a |
A |
T |
5: 135,764,977 (GRCm39) |
S266T |
possibly damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,615 (GRCm39) |
E92G |
probably damaging |
Het |
| Tnfrsf18 |
T |
A |
4: 156,112,973 (GRCm39) |
V196E |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,599,637 (GRCm39) |
L474H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,807,316 (GRCm39) |
V1020A |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,906,317 (GRCm39) |
C562S |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,666,443 (GRCm39) |
|
probably null |
Het |
| Vgll1 |
A |
C |
X: 56,137,790 (GRCm39) |
K53T |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,335 (GRCm39) |
N285D |
possibly damaging |
Het |
| Zfp445 |
T |
A |
9: 122,682,502 (GRCm39) |
K480* |
probably null |
Het |
| Zfp786 |
A |
G |
6: 47,803,931 (GRCm39) |
V37A |
probably damaging |
Het |
| Zfp821 |
A |
G |
8: 110,447,851 (GRCm39) |
E64G |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,962 (GRCm39) |
D329V |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,704,488 (GRCm39) |
S484G |
probably damaging |
Het |
|
| Other mutations in Prex2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Prex2
|
APN |
1 |
11,256,876 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL00948:Prex2
|
APN |
1 |
11,240,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01087:Prex2
|
APN |
1 |
11,138,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01490:Prex2
|
APN |
1 |
11,254,769 (GRCm39) |
splice site |
probably null |
|
|
IGL01533:Prex2
|
APN |
1 |
11,256,965 (GRCm39) |
nonsense |
probably null |
|
|
IGL01661:Prex2
|
APN |
1 |
11,278,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01668:Prex2
|
APN |
1 |
11,223,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01674:Prex2
|
APN |
1 |
11,240,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Prex2
|
APN |
1 |
11,336,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01867:Prex2
|
APN |
1 |
11,168,727 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01954:Prex2
|
APN |
1 |
11,210,235 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01990:Prex2
|
APN |
1 |
11,193,457 (GRCm39) |
splice site |
probably benign |
|
|
IGL02022:Prex2
|
APN |
1 |
11,367,963 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02130:Prex2
|
APN |
1 |
11,230,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02130:Prex2
|
APN |
1 |
11,183,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Prex2
|
APN |
1 |
11,131,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02369:Prex2
|
APN |
1 |
11,171,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02440:Prex2
|
APN |
1 |
11,223,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02477:Prex2
|
APN |
1 |
11,274,378 (GRCm39) |
missense |
probably benign |
|
|
IGL02492:Prex2
|
APN |
1 |
11,194,069 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03051:Prex2
|
APN |
1 |
11,212,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03154:Prex2
|
APN |
1 |
11,223,857 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03158:Prex2
|
APN |
1 |
11,336,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03308:Prex2
|
APN |
1 |
11,255,399 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03338:Prex2
|
APN |
1 |
11,210,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0042:Prex2
|
UTSW |
1 |
11,150,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Prex2
|
UTSW |
1 |
11,230,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Prex2
|
UTSW |
1 |
11,230,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Prex2
|
UTSW |
1 |
11,355,267 (GRCm39) |
splice site |
probably benign |
|
|
R0206:Prex2
|
UTSW |
1 |
11,355,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Prex2
|
UTSW |
1 |
11,355,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Prex2
|
UTSW |
1 |
11,355,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Prex2
|
UTSW |
1 |
11,270,281 (GRCm39) |
splice site |
probably null |
|
|
R0326:Prex2
|
UTSW |
1 |
11,355,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Prex2
|
UTSW |
1 |
11,159,930 (GRCm39) |
splice site |
probably null |
|
|
R0492:Prex2
|
UTSW |
1 |
11,256,857 (GRCm39) |
splice site |
probably benign |
|
|
R0512:Prex2
|
UTSW |
1 |
11,270,157 (GRCm39) |
missense |
probably benign |
|
|
R0515:Prex2
|
UTSW |
1 |
11,270,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0894:Prex2
|
UTSW |
1 |
11,252,122 (GRCm39) |
missense |
probably benign |
|
|
R1259:Prex2
|
UTSW |
1 |
11,359,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1332:Prex2
|
UTSW |
1 |
11,274,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Prex2
|
UTSW |
1 |
11,150,316 (GRCm39) |
nonsense |
probably null |
|
|
R1451:Prex2
|
UTSW |
1 |
11,226,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1488:Prex2
|
UTSW |
1 |
11,263,752 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1512:Prex2
|
UTSW |
1 |
11,131,554 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1641:Prex2
|
UTSW |
1 |
11,301,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Prex2
|
UTSW |
1 |
11,256,981 (GRCm39) |
missense |
probably benign |
|
|
R1678:Prex2
|
UTSW |
1 |
11,355,313 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1736:Prex2
|
UTSW |
1 |
11,160,108 (GRCm39) |
splice site |
probably benign |
|
|
R1781:Prex2
|
UTSW |
1 |
11,270,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1804:Prex2
|
UTSW |
1 |
11,202,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Prex2
|
UTSW |
1 |
11,207,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Prex2
|
UTSW |
1 |
11,232,590 (GRCm39) |
nonsense |
probably null |
|
|
R1900:Prex2
|
UTSW |
1 |
11,232,590 (GRCm39) |
nonsense |
probably null |
|
|
R2020:Prex2
|
UTSW |
1 |
11,232,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2114:Prex2
|
UTSW |
1 |
11,256,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Prex2
|
UTSW |
1 |
11,336,376 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2902:Prex2
|
UTSW |
1 |
11,278,838 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2915:Prex2
|
UTSW |
1 |
11,240,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2924:Prex2
|
UTSW |
1 |
11,168,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2981:Prex2
|
UTSW |
1 |
11,252,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Prex2
|
UTSW |
1 |
11,220,078 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3832:Prex2
|
UTSW |
1 |
11,226,588 (GRCm39) |
splice site |
probably benign |
|
|
R3870:Prex2
|
UTSW |
1 |
11,230,416 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3963:Prex2
|
UTSW |
1 |
11,180,581 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4012:Prex2
|
UTSW |
1 |
11,254,740 (GRCm39) |
missense |
probably benign |
|
|
R4030:Prex2
|
UTSW |
1 |
11,278,792 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4214:Prex2
|
UTSW |
1 |
11,355,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Prex2
|
UTSW |
1 |
11,171,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4242:Prex2
|
UTSW |
1 |
11,226,528 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4490:Prex2
|
UTSW |
1 |
11,232,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4491:Prex2
|
UTSW |
1 |
11,232,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4492:Prex2
|
UTSW |
1 |
11,232,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4561:Prex2
|
UTSW |
1 |
11,254,769 (GRCm39) |
splice site |
probably null |
|
|
R4624:Prex2
|
UTSW |
1 |
11,359,489 (GRCm39) |
nonsense |
probably null |
|
|
R4647:Prex2
|
UTSW |
1 |
11,232,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Prex2
|
UTSW |
1 |
11,136,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4706:Prex2
|
UTSW |
1 |
11,270,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Prex2
|
UTSW |
1 |
11,138,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Prex2
|
UTSW |
1 |
11,220,129 (GRCm39) |
splice site |
probably benign |
|
|
R4922:Prex2
|
UTSW |
1 |
11,240,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Prex2
|
UTSW |
1 |
11,168,705 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5284:Prex2
|
UTSW |
1 |
11,336,314 (GRCm39) |
nonsense |
probably null |
|
|
R5305:Prex2
|
UTSW |
1 |
11,177,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Prex2
|
UTSW |
1 |
11,270,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5331:Prex2
|
UTSW |
1 |
11,210,235 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5385:Prex2
|
UTSW |
1 |
11,210,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5574:Prex2
|
UTSW |
1 |
11,210,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Prex2
|
UTSW |
1 |
11,202,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Prex2
|
UTSW |
1 |
11,256,174 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6160:Prex2
|
UTSW |
1 |
11,064,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Prex2
|
UTSW |
1 |
11,207,001 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6221:Prex2
|
UTSW |
1 |
11,336,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6293:Prex2
|
UTSW |
1 |
11,232,522 (GRCm39) |
missense |
probably benign |
|
|
R6335:Prex2
|
UTSW |
1 |
11,180,544 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6401:Prex2
|
UTSW |
1 |
11,256,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6427:Prex2
|
UTSW |
1 |
11,252,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Prex2
|
UTSW |
1 |
11,336,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Prex2
|
UTSW |
1 |
11,171,285 (GRCm39) |
splice site |
probably null |
|
|
R6734:Prex2
|
UTSW |
1 |
11,150,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Prex2
|
UTSW |
1 |
11,254,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6880:Prex2
|
UTSW |
1 |
11,202,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6973:Prex2
|
UTSW |
1 |
11,182,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Prex2
|
UTSW |
1 |
11,232,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6987:Prex2
|
UTSW |
1 |
11,240,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7085:Prex2
|
UTSW |
1 |
11,168,812 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7101:Prex2
|
UTSW |
1 |
11,223,833 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7106:Prex2
|
UTSW |
1 |
11,207,017 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7319:Prex2
|
UTSW |
1 |
11,232,532 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7342:Prex2
|
UTSW |
1 |
11,232,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Prex2
|
UTSW |
1 |
11,355,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Prex2
|
UTSW |
1 |
11,274,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7592:Prex2
|
UTSW |
1 |
11,193,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Prex2
|
UTSW |
1 |
11,220,078 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7695:Prex2
|
UTSW |
1 |
11,232,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7720:Prex2
|
UTSW |
1 |
11,252,161 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7733:Prex2
|
UTSW |
1 |
11,252,183 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7859:Prex2
|
UTSW |
1 |
11,150,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Prex2
|
UTSW |
1 |
11,270,194 (GRCm39) |
missense |
probably benign |
|
|
R8300:Prex2
|
UTSW |
1 |
11,301,942 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8345:Prex2
|
UTSW |
1 |
11,270,118 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8352:Prex2
|
UTSW |
1 |
11,355,364 (GRCm39) |
missense |
probably benign |
|
|
R8352:Prex2
|
UTSW |
1 |
11,355,363 (GRCm39) |
missense |
probably benign |
|
|
R8410:Prex2
|
UTSW |
1 |
11,223,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8452:Prex2
|
UTSW |
1 |
11,355,364 (GRCm39) |
missense |
probably benign |
|
|
R8452:Prex2
|
UTSW |
1 |
11,355,363 (GRCm39) |
missense |
probably benign |
|
|
R8885:Prex2
|
UTSW |
1 |
11,240,799 (GRCm39) |
splice site |
probably benign |
|
|
R8926:Prex2
|
UTSW |
1 |
11,159,930 (GRCm39) |
splice site |
probably null |
|
|
R8968:Prex2
|
UTSW |
1 |
11,180,562 (GRCm39) |
nonsense |
probably null |
|
|
R9049:Prex2
|
UTSW |
1 |
11,256,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9398:Prex2
|
UTSW |
1 |
11,207,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9452:Prex2
|
UTSW |
1 |
11,256,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9549:Prex2
|
UTSW |
1 |
11,256,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Prex2
|
UTSW |
1 |
11,255,390 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Prex2
|
UTSW |
1 |
11,359,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATAGAGCTTCTGCGTGG -3'
(R):5'- CCTCTTTAGAATGGAAATCACTGC -3'
Sequencing Primer
(F):5'- AGCTTTGGTTTTTAGAGTTAGCACAC -3'
(R):5'- TTAGAATGGAAATCACTGCAGATAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation