Incidental Mutation 'IGL00430:Crispld2'
| ID |
4956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crispld2
|
| Ensembl Gene |
ENSMUSG00000031825 |
| Gene Name |
cysteine-rich secretory protein LCCL domain containing 2 |
| Synonyms |
coffeecrisp, Lgl1, 1810049K24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120719177-120779532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120760299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 408
(R408S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034282]
[ENSMUST00000108972]
[ENSMUST00000127664]
[ENSMUST00000132583]
|
| AlphaFold |
Q8BZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034282
AA Change: R408S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: R408S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SCP
|
54 |
208 |
1.2e-48 |
SMART |
|
LCCL
|
284 |
368 |
1.25e-45 |
SMART |
|
LCCL
|
385 |
477 |
1.28e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108972
AA Change: R407S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: R407S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SCP
|
54 |
208 |
1.2e-48 |
SMART |
|
LCCL
|
283 |
367 |
1.25e-45 |
SMART |
|
LCCL
|
384 |
476 |
1.28e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132583
AA Change: R407S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: R407S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SCP
|
54 |
208 |
1.2e-48 |
SMART |
|
LCCL
|
283 |
367 |
1.25e-45 |
SMART |
|
LCCL
|
384 |
476 |
1.28e-51 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160605
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
| Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
| Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
| Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
| Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
| Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
| Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
| Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
| St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
Het |
|
| Other mutations in Crispld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Crispld2
|
APN |
8 |
120,737,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Crispld2
|
APN |
8 |
120,757,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03324:Crispld2
|
APN |
8 |
120,742,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Crispld2
|
UTSW |
8 |
120,752,810 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0212:Crispld2
|
UTSW |
8 |
120,737,370 (GRCm39) |
missense |
probably benign |
|
|
R0492:Crispld2
|
UTSW |
8 |
120,752,806 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1532:Crispld2
|
UTSW |
8 |
120,750,311 (GRCm39) |
missense |
probably benign |
|
|
R1715:Crispld2
|
UTSW |
8 |
120,750,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1865:Crispld2
|
UTSW |
8 |
120,737,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1953:Crispld2
|
UTSW |
8 |
120,742,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Crispld2
|
UTSW |
8 |
120,742,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Crispld2
|
UTSW |
8 |
120,752,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2851:Crispld2
|
UTSW |
8 |
120,740,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Crispld2
|
UTSW |
8 |
120,756,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3776:Crispld2
|
UTSW |
8 |
120,756,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6044:Crispld2
|
UTSW |
8 |
120,737,410 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6485:Crispld2
|
UTSW |
8 |
120,756,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6861:Crispld2
|
UTSW |
8 |
120,752,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Crispld2
|
UTSW |
8 |
120,757,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8814:Crispld2
|
UTSW |
8 |
120,742,084 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9129:Crispld2
|
UTSW |
8 |
120,737,488 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9665:Crispld2
|
UTSW |
8 |
120,760,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation