Incidental Mutation 'R0564:Dpysl2'
| ID |
46089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpysl2
|
| Ensembl Gene |
ENSMUSG00000022048 |
| Gene Name |
dihydropyrimidinase-like 2 |
| Synonyms |
DRP2, Crmp2, TOAD-64, Ulip2 |
| MMRRC Submission |
038755-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R0564 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67040313-67106137 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 67042895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022629]
|
| AlphaFold |
O08553 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022629
|
| SMART Domains |
Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.3e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,779,655 (GRCm39) |
Y405H |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
| Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
| Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
| Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
| Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
| Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
| Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,000,506 (GRCm39) |
Y427N |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,601,574 (GRCm39) |
L410P |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
| Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
| Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
| Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
| Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
| Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
| Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
| Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
| Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTCAGAATGTCCTCAGGTGTCC -3'
(R):5'- CGTGGGTCAAAAGAGCCATACTCTC -3'
Sequencing Primer
(F):5'- GTCCTCAGGTGTCCCATCC -3'
(R):5'- AAGAGCCATACTCTCTAGTACCTTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation