Incidental Mutation 'R4575:Dpysl3'
| ID |
342427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpysl3
|
| Ensembl Gene |
ENSMUSG00000024501 |
| Gene Name |
dihydropyrimidinase-like 3 |
| Synonyms |
CRMP4, Ulip, 9430041P20Rik, CRMP-4, TUC4, Ulip1 |
| MMRRC Submission |
041798-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.581)
|
| Stock # |
R4575 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
43454049-43571351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43475312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 382
(K382R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025379]
[ENSMUST00000118043]
[ENSMUST00000118071]
[ENSMUST00000121805]
[ENSMUST00000124207]
|
| AlphaFold |
Q62188 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025379
AA Change: K269R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: K269R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
35 |
104 |
8e-13 |
PFAM |
|
Pfam:Amidohydro_4
|
59 |
410 |
3.4e-14 |
PFAM |
|
Pfam:Amidohydro_1
|
64 |
413 |
7.3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118043
AA Change: K267R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: K267R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
33 |
102 |
2e-13 |
PFAM |
|
Pfam:Amidohydro_4
|
57 |
408 |
8.8e-15 |
PFAM |
|
Pfam:Amidohydro_1
|
62 |
411 |
2.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118071
AA Change: K58R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113604
Gene: ENSMUSG00000024501
AA Change: K58R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BKN|B
|
1 |
91 |
2e-58 |
PDB |
|
SCOP:d1gkra2
|
1 |
96 |
3e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121805
AA Change: K382R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: K382R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
102 |
N/A |
INTRINSIC |
|
Pfam:Amidohydro_1
|
177 |
566 |
1.4e-41 |
PFAM |
|
Pfam:Amidohydro_3
|
481 |
566 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124207
AA Change: K58R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114981
Gene: ENSMUSG00000024501
AA Change: K58R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
6 |
202 |
1e-23 |
PFAM |
|
Pfam:Amidohydro_4
|
16 |
199 |
1.2e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to the TUC (TOAD-64/Ulip/CRMP) family of proteins. Members of this family are phosphoproteins that function in axonal guidance and neuronal differentiation during development and regeneration of the nervous system. A mutation in the human gene is associated with amyotrophic lateral sclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired axon extension, abnormal neuron growth cones morphology and impaired anterograde transportation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
C |
T |
7: 130,964,325 (GRCm39) |
A26T |
probably benign |
Het |
| 4930408O17Rik |
C |
A |
12: 104,837,527 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf3 |
T |
A |
5: 30,407,255 (GRCm39) |
M224L |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,240,475 (GRCm39) |
H129R |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,954,502 (GRCm39) |
Q547* |
probably null |
Het |
| Asb10 |
C |
T |
5: 24,745,052 (GRCm39) |
R99H |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,106,477 (GRCm39) |
V1001A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,643,419 (GRCm39) |
V475A |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,150,639 (GRCm39) |
L16Q |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,805 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2d22 |
G |
T |
15: 82,256,133 (GRCm39) |
A167E |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,626,823 (GRCm39) |
I362T |
possibly damaging |
Het |
| Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,254,896 (GRCm39) |
Q507R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,342,704 (GRCm39) |
T1666A |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,158,175 (GRCm39) |
T266I |
possibly damaging |
Het |
| Gm11563 |
G |
A |
11: 99,549,275 (GRCm39) |
P160S |
unknown |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,715,736 (GRCm39) |
V34A |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,777,599 (GRCm39) |
Y199H |
probably benign |
Het |
| Ide |
G |
A |
19: 37,249,604 (GRCm39) |
P916L |
unknown |
Het |
| Igsf10 |
G |
T |
3: 59,237,521 (GRCm39) |
H887N |
probably benign |
Het |
| Iigp1 |
A |
T |
18: 60,523,218 (GRCm39) |
H112L |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,082,095 (GRCm39) |
E1009G |
probably damaging |
Het |
| Khdc1a |
A |
C |
1: 21,420,653 (GRCm39) |
D91A |
probably damaging |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Krt1c |
T |
G |
15: 101,722,921 (GRCm39) |
D359A |
probably damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,725 (GRCm39) |
N96K |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,846,204 (GRCm39) |
D82G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,120,299 (GRCm39) |
I473V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,013,598 (GRCm39) |
D1108G |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,976 (GRCm39) |
C73* |
probably null |
Het |
| Or7g12 |
C |
A |
9: 18,900,001 (GRCm39) |
S239* |
probably null |
Het |
| Otop1 |
T |
C |
5: 38,457,065 (GRCm39) |
Y275H |
probably damaging |
Het |
| Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,950,988 (GRCm39) |
E1935G |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rfc4 |
T |
A |
16: 22,933,179 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,137,244 (GRCm39) |
A209E |
probably damaging |
Het |
| Sf1 |
T |
C |
19: 6,425,943 (GRCm39) |
|
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,679 (GRCm39) |
D148G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,524,390 (GRCm39) |
S864C |
unknown |
Het |
| Slc2a10 |
C |
G |
2: 165,358,241 (GRCm39) |
N455K |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,076,986 (GRCm39) |
I1673N |
probably benign |
Het |
| Sri |
G |
T |
5: 8,113,693 (GRCm39) |
G152W |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,272 (GRCm39) |
D19E |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
|
| Other mutations in Dpysl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Dpysl3
|
APN |
18 |
43,491,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Dpysl3
|
APN |
18 |
43,458,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02632:Dpysl3
|
APN |
18 |
43,526,090 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03111:Dpysl3
|
APN |
18 |
43,462,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03138:Dpysl3
|
UTSW |
18 |
43,458,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Dpysl3
|
UTSW |
18 |
43,491,440 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0062:Dpysl3
|
UTSW |
18 |
43,466,941 (GRCm39) |
splice site |
probably null |
|
|
R0062:Dpysl3
|
UTSW |
18 |
43,466,941 (GRCm39) |
splice site |
probably null |
|
|
R0656:Dpysl3
|
UTSW |
18 |
43,571,136 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1522:Dpysl3
|
UTSW |
18 |
43,496,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Dpysl3
|
UTSW |
18 |
43,461,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1764:Dpysl3
|
UTSW |
18 |
43,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Dpysl3
|
UTSW |
18 |
43,475,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1880:Dpysl3
|
UTSW |
18 |
43,462,939 (GRCm39) |
splice site |
probably null |
|
|
R1907:Dpysl3
|
UTSW |
18 |
43,571,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Dpysl3
|
UTSW |
18 |
43,465,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Dpysl3
|
UTSW |
18 |
43,491,358 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3434:Dpysl3
|
UTSW |
18 |
43,494,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4778:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4780:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4858:Dpysl3
|
UTSW |
18 |
43,467,079 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4987:Dpysl3
|
UTSW |
18 |
43,461,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5151:Dpysl3
|
UTSW |
18 |
43,571,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5152:Dpysl3
|
UTSW |
18 |
43,571,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5229:Dpysl3
|
UTSW |
18 |
43,466,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Dpysl3
|
UTSW |
18 |
43,494,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Dpysl3
|
UTSW |
18 |
43,494,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Dpysl3
|
UTSW |
18 |
43,571,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Dpysl3
|
UTSW |
18 |
43,494,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Dpysl3
|
UTSW |
18 |
43,570,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6958:Dpysl3
|
UTSW |
18 |
43,571,067 (GRCm39) |
missense |
probably benign |
|
|
R6991:Dpysl3
|
UTSW |
18 |
43,486,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Dpysl3
|
UTSW |
18 |
43,496,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Dpysl3
|
UTSW |
18 |
43,462,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Dpysl3
|
UTSW |
18 |
43,571,107 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8731:Dpysl3
|
UTSW |
18 |
43,571,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Dpysl3
|
UTSW |
18 |
43,462,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Dpysl3
|
UTSW |
18 |
43,487,867 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9682:Dpysl3
|
UTSW |
18 |
43,491,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Dpysl3
|
UTSW |
18 |
43,571,192 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9786:Dpysl3
|
UTSW |
18 |
43,462,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGTTTTGACCTGGATC -3'
(R):5'- ATCACCACCTGTCGTAGAGG -3'
Sequencing Primer
(F):5'- GGCAAATTGCTTAACCCTCCTGAG -3'
(R):5'- TGTCGTAGAGGCAGGGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation