Incidental Mutation 'R7955:Clvs2'
ID |
649774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clvs2
|
Ensembl Gene |
ENSMUSG00000019785 |
Gene Name |
clavesin 2 |
Synonyms |
Rlbp1l2, A330019N05Rik |
MMRRC Submission |
045999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R7955 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
33388282-33500680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33471808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 166
(N166D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019920]
[ENSMUST00000160299]
[ENSMUST00000161692]
|
AlphaFold |
Q8BG92 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019920
AA Change: N166D
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019920 Gene: ENSMUSG00000019785 AA Change: N166D
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
50 |
75 |
9.15e-5 |
SMART |
SEC14
|
96 |
254 |
1.02e-38 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160299
AA Change: N166D
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125100 Gene: ENSMUSG00000019785 AA Change: N166D
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
50 |
75 |
9.15e-5 |
SMART |
Pfam:CRAL_TRIO
|
98 |
219 |
8e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161692
AA Change: N166D
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
Adgrg5 |
G |
A |
8: 95,664,325 (GRCm39) |
V312M |
|
Het |
Ankrd53 |
A |
G |
6: 83,744,845 (GRCm39) |
T352A |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,831,088 (GRCm39) |
M512L |
probably null |
Het |
AW551984 |
A |
G |
9: 39,507,960 (GRCm39) |
F392S |
probably damaging |
Het |
Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
Cldnd2 |
G |
T |
7: 43,091,120 (GRCm39) |
L17F |
possibly damaging |
Het |
Cox10 |
A |
T |
11: 63,884,750 (GRCm39) |
N218K |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
Daxx |
T |
A |
17: 34,131,229 (GRCm39) |
Y385* |
probably null |
Het |
Dnmbp |
T |
C |
19: 43,890,762 (GRCm39) |
E335G |
probably benign |
Het |
Erich3 |
C |
T |
3: 154,444,951 (GRCm39) |
Q376* |
probably null |
Het |
Flot2 |
A |
G |
11: 77,949,769 (GRCm39) |
|
probably null |
Het |
Ganc |
A |
G |
2: 120,261,181 (GRCm39) |
T289A |
probably damaging |
Het |
Gm19668 |
G |
A |
10: 77,634,630 (GRCm39) |
T113I |
unknown |
Het |
Gpm6a |
A |
G |
8: 55,511,840 (GRCm39) |
N238S |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,759,221 (GRCm39) |
T124A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,186,816 (GRCm39) |
V48A |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,594,070 (GRCm39) |
H205R |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,452,875 (GRCm39) |
S588R |
probably damaging |
Het |
Mocos |
A |
G |
18: 24,799,216 (GRCm39) |
D150G |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,979,354 (GRCm39) |
D576G |
possibly damaging |
Het |
Mybpc3 |
A |
G |
2: 90,956,401 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
T |
2: 69,925,623 (GRCm39) |
Y58F |
probably benign |
Het |
Ndst3 |
T |
G |
3: 123,400,586 (GRCm39) |
K440T |
probably benign |
Het |
Ndst4 |
T |
A |
3: 125,231,831 (GRCm39) |
Y133* |
probably null |
Het |
Nrcam |
G |
A |
12: 44,631,737 (GRCm39) |
V1097M |
probably benign |
Het |
Or6z1 |
A |
G |
7: 6,505,078 (GRCm39) |
I49T |
possibly damaging |
Het |
Rabep1 |
A |
G |
11: 70,808,267 (GRCm39) |
T408A |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
Sh2d4a |
A |
G |
8: 68,781,907 (GRCm39) |
K172E |
probably benign |
Het |
Slc12a9 |
A |
C |
5: 137,323,808 (GRCm39) |
L369R |
probably damaging |
Het |
Slc30a1 |
T |
C |
1: 191,639,395 (GRCm39) |
C93R |
probably damaging |
Het |
Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,880,400 (GRCm39) |
Y402F |
probably benign |
Het |
Tmem17 |
T |
A |
11: 22,468,490 (GRCm39) |
I143K |
possibly damaging |
Het |
Tmprss11f |
A |
C |
5: 86,692,682 (GRCm39) |
S81A |
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,066,225 (GRCm39) |
P834S |
possibly damaging |
Het |
Trpm4 |
C |
A |
7: 44,968,683 (GRCm39) |
G417W |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,831,654 (GRCm39) |
R1506S |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,040,305 (GRCm39) |
V150A |
possibly damaging |
Het |
Ttc39d |
T |
C |
17: 80,523,352 (GRCm39) |
F4L |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,307,619 (GRCm39) |
L134H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,577,416 (GRCm39) |
S1232R |
probably benign |
Het |
Zswim2 |
A |
C |
2: 83,747,227 (GRCm39) |
F353V |
probably benign |
Het |
|
Other mutations in Clvs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00959:Clvs2
|
APN |
10 |
33,404,459 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02304:Clvs2
|
APN |
10 |
33,404,443 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02967:Clvs2
|
APN |
10 |
33,471,784 (GRCm39) |
missense |
probably damaging |
0.98 |
R0085:Clvs2
|
UTSW |
10 |
33,498,542 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0346:Clvs2
|
UTSW |
10 |
33,498,542 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1228:Clvs2
|
UTSW |
10 |
33,498,600 (GRCm39) |
missense |
probably benign |
0.05 |
R1405:Clvs2
|
UTSW |
10 |
33,389,256 (GRCm39) |
makesense |
probably null |
|
R1405:Clvs2
|
UTSW |
10 |
33,389,256 (GRCm39) |
makesense |
probably null |
|
R2176:Clvs2
|
UTSW |
10 |
33,471,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2280:Clvs2
|
UTSW |
10 |
33,404,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R3413:Clvs2
|
UTSW |
10 |
33,498,967 (GRCm39) |
start gained |
probably benign |
|
R4008:Clvs2
|
UTSW |
10 |
33,419,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R4855:Clvs2
|
UTSW |
10 |
33,498,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R5814:Clvs2
|
UTSW |
10 |
33,404,503 (GRCm39) |
missense |
probably benign |
0.01 |
R6265:Clvs2
|
UTSW |
10 |
33,404,511 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6730:Clvs2
|
UTSW |
10 |
33,404,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7558:Clvs2
|
UTSW |
10 |
33,419,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R8337:Clvs2
|
UTSW |
10 |
33,404,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8423:Clvs2
|
UTSW |
10 |
33,498,855 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8855:Clvs2
|
UTSW |
10 |
33,404,400 (GRCm39) |
missense |
probably benign |
0.21 |
R8963:Clvs2
|
UTSW |
10 |
33,498,677 (GRCm39) |
missense |
probably benign |
0.22 |
R9090:Clvs2
|
UTSW |
10 |
33,389,301 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9121:Clvs2
|
UTSW |
10 |
33,389,331 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9269:Clvs2
|
UTSW |
10 |
33,419,422 (GRCm39) |
missense |
probably damaging |
0.99 |
R9271:Clvs2
|
UTSW |
10 |
33,389,301 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9373:Clvs2
|
UTSW |
10 |
33,404,382 (GRCm39) |
missense |
probably benign |
0.03 |
R9488:Clvs2
|
UTSW |
10 |
33,389,301 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9710:Clvs2
|
UTSW |
10 |
33,389,307 (GRCm39) |
missense |
probably benign |
0.02 |
RF003:Clvs2
|
UTSW |
10 |
33,498,921 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGACCCACATCCTGCTTTC -3'
(R):5'- TCATGGTCCATTTAAGTCAATCTCT -3'
Sequencing Primer
(F):5'- GACCCACATCCTGCTTTCTCTTTG -3'
(R):5'- TCATTCCCTAAACAAATCTCAAGGTC -3'
|
Posted On |
2020-09-15 |