Incidental Mutation 'R0085:Clvs2'
ID |
19863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clvs2
|
Ensembl Gene |
ENSMUSG00000019785 |
Gene Name |
clavesin 2 |
Synonyms |
Rlbp1l2, A330019N05Rik |
MMRRC Submission |
038372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R0085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
33388282-33500680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 33498542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 129
(S129R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019920]
[ENSMUST00000160299]
[ENSMUST00000161692]
|
AlphaFold |
Q8BG92 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019920
AA Change: S129R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000019920 Gene: ENSMUSG00000019785 AA Change: S129R
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
50 |
75 |
9.15e-5 |
SMART |
SEC14
|
96 |
254 |
1.02e-38 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159533
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160299
AA Change: S129R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125100 Gene: ENSMUSG00000019785 AA Change: S129R
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 |
noncoding transcript
Transcript: ENSMUST00000160756
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161692
AA Change: S129R
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217704
|
Meta Mutation Damage Score |
0.1098 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
Validation Efficiency |
95% (71/75) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
A |
G |
5: 121,742,357 (GRCm39) |
I417T |
possibly damaging |
Het |
Adcy9 |
T |
C |
16: 4,106,088 (GRCm39) |
T1009A |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Baat |
T |
C |
4: 49,490,425 (GRCm39) |
|
probably benign |
Het |
Bpi |
T |
A |
2: 158,115,072 (GRCm39) |
L311* |
probably null |
Het |
Brd2 |
A |
C |
17: 34,332,233 (GRCm39) |
F294L |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,209,850 (GRCm39) |
E804D |
probably benign |
Het |
Cd209g |
A |
T |
8: 4,184,785 (GRCm39) |
|
probably benign |
Het |
Cfi |
A |
G |
3: 129,668,635 (GRCm39) |
I554V |
probably benign |
Het |
Dst |
T |
C |
1: 34,268,268 (GRCm39) |
S2897P |
probably damaging |
Het |
Efcab7 |
T |
C |
4: 99,761,877 (GRCm39) |
|
probably benign |
Het |
Fbxo2 |
T |
C |
4: 148,249,367 (GRCm39) |
|
probably null |
Het |
Fgfr2 |
C |
A |
7: 129,797,993 (GRCm39) |
R400L |
probably damaging |
Het |
Hsd17b14 |
T |
C |
7: 45,205,834 (GRCm39) |
|
probably benign |
Het |
Il23r |
T |
C |
6: 67,463,206 (GRCm39) |
N96D |
probably damaging |
Het |
Ints13 |
T |
A |
6: 146,476,285 (GRCm39) |
|
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,619,046 (GRCm39) |
S583R |
probably damaging |
Het |
Lig1 |
A |
G |
7: 13,041,495 (GRCm39) |
I776V |
possibly damaging |
Het |
Madd |
T |
C |
2: 90,993,083 (GRCm39) |
I997V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,121,826 (GRCm39) |
H116Y |
possibly damaging |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Myo5b |
A |
C |
18: 74,834,751 (GRCm39) |
D937A |
probably benign |
Het |
Nox3 |
T |
C |
17: 3,685,556 (GRCm39) |
N584S |
probably benign |
Het |
Ogfr |
A |
G |
2: 180,232,830 (GRCm39) |
|
probably null |
Het |
Or11g25 |
T |
A |
14: 50,723,791 (GRCm39) |
M292K |
probably benign |
Het |
Or13p3 |
T |
C |
4: 118,567,078 (GRCm39) |
V158A |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,958 (GRCm39) |
I207T |
probably benign |
Het |
Osbpl6 |
G |
T |
2: 76,423,758 (GRCm39) |
V728F |
probably benign |
Het |
Picalm |
T |
A |
7: 89,831,525 (GRCm39) |
S453T |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,228,354 (GRCm39) |
L310P |
probably damaging |
Het |
Pitrm1 |
C |
T |
13: 6,599,604 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,805,197 (GRCm39) |
F3250L |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,193,373 (GRCm39) |
R376* |
probably null |
Het |
Pnma8b |
A |
T |
7: 16,679,474 (GRCm39) |
S153C |
unknown |
Het |
Rp1l1 |
C |
T |
14: 64,259,744 (GRCm39) |
R129W |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,690,108 (GRCm39) |
V1147A |
probably damaging |
Het |
Sema3d |
G |
A |
5: 12,620,953 (GRCm39) |
V520I |
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,427,136 (GRCm39) |
|
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,297,694 (GRCm39) |
V58A |
probably damaging |
Het |
Slc1a4 |
A |
G |
11: 20,254,510 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,074,690 (GRCm39) |
|
probably benign |
Het |
Tab1 |
G |
T |
15: 80,040,094 (GRCm39) |
A305S |
probably benign |
Het |
Tmem30a |
T |
A |
9: 79,678,576 (GRCm39) |
T327S |
probably benign |
Het |
Tpr |
A |
C |
1: 150,293,164 (GRCm39) |
E863A |
possibly damaging |
Het |
Upk3bl |
A |
G |
5: 136,088,969 (GRCm39) |
N161D |
probably benign |
Het |
Ush1c |
T |
A |
7: 45,874,979 (GRCm39) |
I131F |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,800,200 (GRCm39) |
R1975S |
possibly damaging |
Het |
Zbtb18 |
C |
T |
1: 177,275,501 (GRCm39) |
A287V |
probably benign |
Het |
Zfp712 |
T |
C |
13: 67,189,256 (GRCm39) |
T424A |
probably benign |
Het |
Zfp791 |
G |
T |
8: 85,838,862 (GRCm39) |
Y56* |
probably null |
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 |
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 |
R7955:Clvs2
|
UTSW |
10 |
33,471,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- TTCCCAAGGGAGCCTACTCAAAGC -3'
(R):5'- GCTCGCCTGGAACTCAATGAGAAC -3'
Sequencing Primer
(F):5'- CTCAAAGCTCACTATGAGTTGC -3'
(R):5'- TCATCACTAGGCCGGACATTG -3'
|
Posted On |
2013-04-11 |