Incidental Mutation 'R1228:Clvs2'
| ID |
175037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clvs2
|
| Ensembl Gene |
ENSMUSG00000019785 |
| Gene Name |
clavesin 2 |
| Synonyms |
Rlbp1l2, A330019N05Rik |
| MMRRC Submission |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
33388282-33500680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33498600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 110
(N110S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019920]
[ENSMUST00000160299]
[ENSMUST00000161692]
|
| AlphaFold |
Q8BG92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019920
AA Change: N110S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000019920
Gene: ENSMUSG00000019785
AA Change: N110S
| 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
AA Change: N110S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000125100
Gene: ENSMUSG00000019785
AA Change: N110S
| 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
AA Change: N110S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217704
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
| Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
| Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
| Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
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 |
|
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 |
|
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'- TGGTCATCACTAGGCCGGACATTG -3'
Sequencing Primer
(F):5'- CTCAAAGCTCACTATGAGTTGC -3'
(R):5'- CGCACAGATGACGCTTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation