Incidental Mutation 'R3413:Clvs2'
| ID |
267812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clvs2
|
| Ensembl Gene |
ENSMUSG00000019785 |
| Gene Name |
clavesin 2 |
| Synonyms |
Rlbp1l2, A330019N05Rik |
| MMRRC Submission |
040631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R3413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
33388282-33500680 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 33498967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019920]
[ENSMUST00000160299]
[ENSMUST00000161692]
|
| AlphaFold |
Q8BG92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019920
|
| SMART Domains |
Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
| 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 |
probably benign
Transcript: ENSMUST00000160299
|
| SMART Domains |
Protein: ENSMUSP00000125100
Gene: ENSMUSG00000019785
| 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 |
probably benign
Transcript: ENSMUST00000161692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217704
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,387 (GRCm39) |
|
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,012 (GRCm39) |
H535R |
probably damaging |
Het |
| Ccnb3 |
T |
A |
X: 6,874,040 (GRCm39) |
E846D |
probably benign |
Het |
| Cdca7 |
G |
A |
2: 72,315,631 (GRCm39) |
G365R |
probably damaging |
Het |
| Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
| Ddx42 |
A |
G |
11: 106,138,636 (GRCm39) |
T812A |
probably benign |
Het |
| Dnaaf6 |
T |
A |
X: 139,006,770 (GRCm39) |
N216K |
possibly damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,689,864 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,451,026 (GRCm39) |
E451G |
probably damaging |
Het |
| Hs6st2 |
C |
T |
X: 50,770,332 (GRCm39) |
V50I |
possibly damaging |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,974,043 (GRCm39) |
V361D |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Nup210 |
G |
T |
6: 91,002,224 (GRCm39) |
Q755K |
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,587 (GRCm39) |
V219A |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,039 (GRCm39) |
M186V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,457,631 (GRCm39) |
R3178C |
probably damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,785,775 (GRCm39) |
D327G |
probably benign |
Het |
| Tbc1d8b |
C |
T |
X: 138,614,140 (GRCm39) |
A391V |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,743,387 (GRCm39) |
E173G |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp92 |
C |
T |
X: 72,463,900 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
probably damaging |
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 |
|
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'- ATGAAATTTCCTGGCCCTCAAG -3'
(R):5'- ATACTCTCCAGAAAAGCTATGGGG -3'
Sequencing Primer
(F):5'- ATGAAAGCGTCATCTGTGCGC -3'
(R):5'- TCTCCAGAAAAGCTATGGGGAAAAAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation