Incidental Mutation 'R6730:Clvs2'
| ID |
530028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clvs2
|
| Ensembl Gene |
ENSMUSG00000019785 |
| Gene Name |
clavesin 2 |
| Synonyms |
Rlbp1l2, A330019N05Rik |
| MMRRC Submission |
044848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
33388282-33500680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33404517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 233
(L233P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019920]
|
| AlphaFold |
Q8BG92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019920
AA Change: L233P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: L233P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
| Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
T |
14: 66,275,025 (GRCm39) |
N569K |
possibly damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,696 (GRCm39) |
V602A |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
| Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,825,516 (GRCm39) |
S478P |
possibly damaging |
Het |
| Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
| Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
| Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
| Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
| Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
| Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
| Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
| Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
| Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
| Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
| Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
| Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
| Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
| Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,212 (GRCm39) |
Q831R |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,557,898 (GRCm39) |
R527* |
probably null |
Het |
| Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
| Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
| Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
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 |
|
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'- TTGTCCACGTCCTTCACAGG -3'
(R):5'- CTTGACCCTCAGGACCTTTAAATG -3'
Sequencing Primer
(F):5'- ACGTCCTTCACAGGCATGTTATAGG -3'
(R):5'- GACCCTCAGGACCTTTAAATGAAATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation