Incidental Mutation 'IGL03357:Dpysl2'
| ID |
419982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpysl2
|
| Ensembl Gene |
ENSMUSG00000022048 |
| Gene Name |
dihydropyrimidinase-like 2 |
| Synonyms |
DRP2, Crmp2, TOAD-64, Ulip2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
IGL03357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
67040313-67106137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67050736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 374
(K374E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022629]
|
| AlphaFold |
O08553 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022629
AA Change: K374E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: K374E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.3e-54 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal dendritic patterning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
| Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
| Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
| Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
| Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
| Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
| Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
probably benign |
Het |
|
| Other mutations in Dpysl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Dpysl2
|
APN |
14 |
67,071,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01451:Dpysl2
|
APN |
14 |
67,045,367 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02080:Dpysl2
|
APN |
14 |
67,067,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02313:Dpysl2
|
APN |
14 |
67,061,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02530:Dpysl2
|
APN |
14 |
67,061,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Dpysl2
|
APN |
14 |
67,045,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Dpysl2
|
UTSW |
14 |
67,045,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Dpysl2
|
UTSW |
14 |
67,042,895 (GRCm39) |
splice site |
probably benign |
|
|
R1121:Dpysl2
|
UTSW |
14 |
67,100,001 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1190:Dpysl2
|
UTSW |
14 |
67,061,850 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1595:Dpysl2
|
UTSW |
14 |
67,052,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Dpysl2
|
UTSW |
14 |
67,100,114 (GRCm39) |
splice site |
probably benign |
|
|
R1830:Dpysl2
|
UTSW |
14 |
67,105,840 (GRCm39) |
unclassified |
probably benign |
|
|
R2076:Dpysl2
|
UTSW |
14 |
67,102,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Dpysl2
|
UTSW |
14 |
67,071,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3616:Dpysl2
|
UTSW |
14 |
67,071,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Dpysl2
|
UTSW |
14 |
67,061,880 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4209:Dpysl2
|
UTSW |
14 |
67,052,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4211:Dpysl2
|
UTSW |
14 |
67,052,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4793:Dpysl2
|
UTSW |
14 |
67,052,498 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4859:Dpysl2
|
UTSW |
14 |
67,066,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Dpysl2
|
UTSW |
14 |
67,071,817 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5708:Dpysl2
|
UTSW |
14 |
67,050,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5808:Dpysl2
|
UTSW |
14 |
67,102,621 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7045:Dpysl2
|
UTSW |
14 |
67,067,395 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7140:Dpysl2
|
UTSW |
14 |
67,099,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7211:Dpysl2
|
UTSW |
14 |
67,067,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7316:Dpysl2
|
UTSW |
14 |
67,100,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7361:Dpysl2
|
UTSW |
14 |
67,071,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7772:Dpysl2
|
UTSW |
14 |
67,066,425 (GRCm39) |
splice site |
probably null |
|
|
R7852:Dpysl2
|
UTSW |
14 |
67,100,092 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8488:Dpysl2
|
UTSW |
14 |
67,066,850 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8987:Dpysl2
|
UTSW |
14 |
67,045,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Dpysl2
|
UTSW |
14 |
67,099,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9771:Dpysl2
|
UTSW |
14 |
67,066,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dpysl2
|
UTSW |
14 |
67,099,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation