Incidental Mutation 'R3928:Dpysl2'
ID |
308387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpysl2
|
Ensembl Gene |
ENSMUSG00000022048 |
Gene Name |
dihydropyrimidinase-like 2 |
Synonyms |
DRP2, Crmp2, TOAD-64, Ulip2 |
MMRRC Submission |
040823-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.480)
|
Stock # |
R3928 (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 67061880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 242
(I242T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022629]
|
AlphaFold |
O08553 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022629
AA Change: I242T
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022629 Gene: ENSMUSG00000022048 AA Change: I242T
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
64 |
453 |
4.3e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.7203 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
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 |
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 |
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'- GGAACATGATCAAAGTGGCCC -3'
(R):5'- GGCAATGTTACTAGACTGTGGG -3'
Sequencing Primer
(F):5'- CATGATCAAAGTGGCCCAGTTG -3'
(R):5'- ACTGTGGGTCTAGGTGGAGC -3'
|
Posted On |
2015-04-17 |