Incidental Mutation 'IGL03324:Crispld2'
| ID |
416591 |
| 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 # |
IGL03324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120719177-120779532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120742110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 153
(R153W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034282]
[ENSMUST00000108972]
[ENSMUST00000127664]
[ENSMUST00000132583]
|
| AlphaFold |
Q8BZQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034282
AA Change: R153W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: R153W
| 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: R153W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: R153W
| 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: R153W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: R153W
| 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: ENSMUST00000151629
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,261 (GRCm39) |
E282G |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,353,167 (GRCm39) |
K758N |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,363,915 (GRCm39) |
R1459* |
probably null |
Het |
| Aco1 |
A |
G |
4: 40,186,363 (GRCm39) |
T592A |
probably benign |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,469,500 (GRCm39) |
|
probably null |
Het |
| Apoe |
A |
T |
7: 19,430,462 (GRCm39) |
I260K |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,124,078 (GRCm39) |
|
probably benign |
Het |
| Coq3 |
A |
G |
4: 21,900,361 (GRCm39) |
D196G |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,852,925 (GRCm39) |
E397G |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,705 (GRCm39) |
Y342H |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,993,120 (GRCm39) |
E575V |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,406,806 (GRCm39) |
V722A |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,947,356 (GRCm39) |
F18L |
probably damaging |
Het |
| Htra2 |
C |
T |
6: 83,030,737 (GRCm39) |
D190N |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,915 (GRCm39) |
N332S |
probably damaging |
Het |
| Naa10 |
C |
T |
X: 72,963,568 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
T |
C |
13: 65,343,042 (GRCm39) |
E179G |
possibly damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,069 (GRCm39) |
F118L |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,165 (GRCm39) |
G92S |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,903 (GRCm39) |
C168* |
probably null |
Het |
| Prss46 |
T |
A |
9: 110,678,747 (GRCm39) |
N46K |
probably benign |
Het |
| Rep15 |
A |
C |
6: 146,934,163 (GRCm39) |
M1L |
possibly damaging |
Het |
| Slc10a4 |
G |
T |
5: 73,169,286 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,691,748 (GRCm39) |
T664S |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Tmf1 |
C |
A |
6: 97,140,614 (GRCm39) |
R754L |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,685,549 (GRCm39) |
Y71F |
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,104,328 (GRCm39) |
T324I |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,365,868 (GRCm39) |
S180P |
probably benign |
Het |
|
| Other mutations in Crispld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Crispld2
|
APN |
8 |
120,760,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation