Incidental Mutation 'R6485:Crispld2'
| ID |
517302 |
| 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 |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120719177-120779532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120756048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 339
(D339G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034282]
[ENSMUST00000108972]
[ENSMUST00000127664]
[ENSMUST00000132583]
|
| AlphaFold |
Q8BZQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034282
AA Change: D340G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: D340G
| 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: D339G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: D339G
| 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: D339G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: D339G
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
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 |
|
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'- ATAGCGGGGAATGGTCGGT -3'
(R):5'- CCACTTCTACAATAAGAAAACAGTGAT -3'
Sequencing Primer
(F):5'- GAATGGTCGGTGGGCTG -3'
(R):5'- TCCCAGCAATCATATGGGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation