Incidental Mutation 'R2161:Crispld2'
ID |
235158 |
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 |
040164-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120719177-120779532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120742078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 142
(Y142C)
|
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: Y142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034282 Gene: ENSMUSG00000031825 AA Change: Y142C
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: Y142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104600 Gene: ENSMUSG00000031825 AA Change: Y142C
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: Y142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122962 Gene: ENSMUSG00000031825 AA Change: Y142C
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACTCTTCAGACACTCAGTTTG -3'
(R):5'- CCAGTGTGCTCTGAGACAAAC -3'
Sequencing Primer
(F):5'- CAGACACTCAGTTTGTAAGATATGTC -3'
(R):5'- TGCTCTGAGACAAACGGAATTAAAGC -3'
|
Posted On |
2014-10-01 |