Incidental Mutation 'R5708:Dpysl2'
| ID |
452103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpysl2
|
| Ensembl Gene |
ENSMUSG00000022048 |
| Gene Name |
dihydropyrimidinase-like 2 |
| Synonyms |
DRP2, Crmp2, TOAD-64, Ulip2 |
| MMRRC Submission |
043333-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R5708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67040313-67106137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67050595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 421
(S421P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022629]
|
| AlphaFold |
O08553 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022629
AA Change: S421P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: S421P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
4.3e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.2004 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
A |
G |
8: 84,729,627 (GRCm39) |
K101R |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,444,106 (GRCm39) |
S18P |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,032 (GRCm39) |
A595S |
possibly damaging |
Het |
| Asxl2 |
T |
A |
12: 3,550,603 (GRCm39) |
S782T |
possibly damaging |
Het |
| C1s2 |
A |
T |
6: 124,602,702 (GRCm39) |
L503* |
probably null |
Het |
| C7 |
A |
G |
15: 5,044,883 (GRCm39) |
V385A |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,635 (GRCm39) |
F630L |
probably damaging |
Het |
| Cdk14 |
A |
C |
5: 5,316,036 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,846,951 (GRCm39) |
I239M |
possibly damaging |
Het |
| Cfap299 |
A |
T |
5: 98,885,566 (GRCm39) |
M158L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,743 (GRCm39) |
N360S |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,312 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,422,016 (GRCm39) |
P135S |
probably damaging |
Het |
| Edn1 |
A |
T |
13: 42,457,143 (GRCm39) |
M59L |
probably benign |
Het |
| EU599041 |
A |
G |
7: 42,875,311 (GRCm39) |
|
noncoding transcript |
Het |
| Furin |
A |
G |
7: 80,047,603 (GRCm39) |
|
probably benign |
Het |
| Gkn2 |
T |
C |
6: 87,354,418 (GRCm39) |
L94P |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,782 (GRCm39) |
C117S |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,723,843 (GRCm39) |
I1869F |
probably benign |
Het |
| Heg1 |
A |
G |
16: 33,562,774 (GRCm39) |
E1119G |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,478 (GRCm39) |
L127Q |
probably damaging |
Het |
| Insyn2a |
C |
A |
7: 134,520,525 (GRCm39) |
V2F |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,911,082 (GRCm39) |
R493G |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,749,242 (GRCm39) |
R27H |
probably benign |
Het |
| Klra14-ps |
A |
G |
6: 130,134,751 (GRCm39) |
|
noncoding transcript |
Het |
| Lgmn |
A |
T |
12: 102,370,587 (GRCm39) |
N114K |
possibly damaging |
Het |
| Lipg |
C |
T |
18: 75,088,505 (GRCm39) |
M148I |
possibly damaging |
Het |
| Megf8 |
G |
T |
7: 25,034,022 (GRCm39) |
R607L |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,747,665 (GRCm39) |
T183A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,515 (GRCm39) |
V85A |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,692,581 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,575,515 (GRCm39) |
|
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,104 (GRCm39) |
Y158C |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,452 (GRCm39) |
D179V |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,391 (GRCm39) |
I135V |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,881,380 (GRCm39) |
S902R |
probably damaging |
Het |
| Rarb |
T |
C |
14: 16,548,545 (GRCm38) |
T93A |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,123,696 (GRCm39) |
D493G |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,583 (GRCm39) |
D606V |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,891 (GRCm39) |
F569L |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,474,170 (GRCm39) |
E149G |
probably benign |
Het |
| Spata13 |
T |
G |
14: 60,929,452 (GRCm39) |
S337A |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,622,018 (GRCm39) |
L360M |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,250,222 (GRCm39) |
C1852S |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Tmem38b |
G |
C |
4: 53,849,051 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
A |
1: 105,741,545 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
A |
3: 28,666,120 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,555,197 (GRCm39) |
|
probably benign |
Het |
| Zfp930 |
T |
C |
8: 69,679,113 (GRCm39) |
V41A |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,383 (GRCm39) |
D372E |
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 |
|
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 |
|
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'- GTGTAAGGACAGCGGCTATTGC -3'
(R):5'- TACATGCTCTGTCCTGCAGG -3'
Sequencing Primer
(F):5'- ATTGCCTCTGAAATGTGCCCAAG -3'
(R):5'- CCTGCAGGTCACTGGGAAGATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation