Incidental Mutation 'R3776:Crispld2'
ID |
273594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crispld2
|
Ensembl Gene |
ENSMUSG00000031825 |
Gene Name |
cysteine-rich secretory protein LCCL domain containing 2 |
Synonyms |
coffeecrisp, Lgl1, 1810049K24Rik |
MMRRC Submission |
040874-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3776 (G1)
|
Quality Score |
165 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120719177-120779532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120756005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
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: S326P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034282 Gene: ENSMUSG00000031825 AA Change: S326P
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: S325P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104600 Gene: ENSMUSG00000031825 AA Change: S325P
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: S325P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122962 Gene: ENSMUSG00000031825 AA Change: S325P
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGATGAGTTCTTAAGCCATC -3'
(R):5'- CCACTTCTACAATAAGAAAACAGTGAT -3'
Sequencing Primer
(F):5'- TTCTTAAGCCATCCAGGAAAAGG -3'
(R):5'- TCCCAGCAATCATATGGGTG -3'
|
Posted On |
2015-03-25 |