Incidental Mutation 'IGL02080:Dpysl2'
| ID |
186091 |
| 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: 0.456)
|
| Stock # |
IGL02080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
67040313-67106137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67067394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 172
(D172E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022629]
|
| AlphaFold |
O08553 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022629
AA Change: D172E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: D172E
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
| Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
| Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
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 |
|
IGL03357:Dpysl2
|
APN |
14 |
67,050,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2014-05-07 |
Incidental Mutation