Incidental Mutation 'R4440:Dpysl5'
| ID |
329714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpysl5
|
| Ensembl Gene |
ENSMUSG00000029168 |
| Gene Name |
dihydropyrimidinase-like 5 |
| Synonyms |
CRMP-5, Crmp5, CRAM |
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30868908-30956713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30949612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 461
(F461L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088081]
[ENSMUST00000114729]
|
| AlphaFold |
Q9EQF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088081
AA Change: F461L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: F461L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
28 |
97 |
3.4e-11 |
PFAM |
|
Pfam:Amidohydro_4
|
52 |
403 |
4.3e-17 |
PFAM |
|
Pfam:Amidohydro_1
|
57 |
406 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114729
AA Change: F461L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: F461L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
57 |
446 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198503
|
| Meta Mutation Damage Score |
0.5813 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| 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 CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit limb grasping, abnormal Purkinje morphology, absent long term depression, and no response to BDNF. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Dpysl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02177:Dpysl5
|
APN |
5 |
30,902,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Dpysl5
|
APN |
5 |
30,946,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Dpysl5
|
UTSW |
5 |
30,935,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0788:Dpysl5
|
UTSW |
5 |
30,946,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1716:Dpysl5
|
UTSW |
5 |
30,935,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2016:Dpysl5
|
UTSW |
5 |
30,948,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Dpysl5
|
UTSW |
5 |
30,948,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Dpysl5
|
UTSW |
5 |
30,948,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Dpysl5
|
UTSW |
5 |
30,948,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Dpysl5
|
UTSW |
5 |
30,941,687 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4918:Dpysl5
|
UTSW |
5 |
30,949,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Dpysl5
|
UTSW |
5 |
30,948,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Dpysl5
|
UTSW |
5 |
30,935,317 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6621:Dpysl5
|
UTSW |
5 |
30,941,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7199:Dpysl5
|
UTSW |
5 |
30,940,539 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7232:Dpysl5
|
UTSW |
5 |
30,949,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7388:Dpysl5
|
UTSW |
5 |
30,902,805 (GRCm39) |
missense |
probably benign |
|
|
R7446:Dpysl5
|
UTSW |
5 |
30,936,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7868:Dpysl5
|
UTSW |
5 |
30,902,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Dpysl5
|
UTSW |
5 |
30,953,658 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8428:Dpysl5
|
UTSW |
5 |
30,902,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8835:Dpysl5
|
UTSW |
5 |
30,936,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8888:Dpysl5
|
UTSW |
5 |
30,902,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8943:Dpysl5
|
UTSW |
5 |
30,935,375 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9033:Dpysl5
|
UTSW |
5 |
30,948,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Dpysl5
|
UTSW |
5 |
30,935,397 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9305:Dpysl5
|
UTSW |
5 |
30,948,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Dpysl5
|
UTSW |
5 |
30,935,399 (GRCm39) |
nonsense |
probably null |
|
|
R9700:Dpysl5
|
UTSW |
5 |
30,904,417 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Dpysl5
|
UTSW |
5 |
30,935,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGCTCTTGTTCCACCC -3'
(R):5'- TGAAACTTTTCCCCTTCTGAGG -3'
Sequencing Primer
(F):5'- AGAAGCTCTTGTTCCACCCTCATTC -3'
(R):5'- CCTTCTGAGGTATCCTGGTCAATTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation