Incidental Mutation 'R3846:Ccser2'
| ID |
277387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser2
|
| Ensembl Gene |
ENSMUSG00000058690 |
| Gene Name |
coiled-coil serine rich 2 |
| Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
| MMRRC Submission |
040894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R3846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36662245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 313
(V313A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000183038]
|
| AlphaFold |
Q3UHI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067700
AA Change: V313A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: V313A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090024
AA Change: V313A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: V313A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183038
|
| SMART Domains |
Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,570 (GRCm39) |
Y261H |
probably damaging |
Het |
| Acad10 |
T |
A |
5: 121,772,749 (GRCm39) |
I511F |
probably benign |
Het |
| Adgb |
G |
A |
10: 10,258,465 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
T |
C |
8: 95,767,049 (GRCm39) |
V468A |
probably benign |
Het |
| Ano4 |
A |
T |
10: 88,831,114 (GRCm39) |
I468N |
possibly damaging |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,101,320 (GRCm39) |
V295A |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,447,271 (GRCm39) |
I325V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,431,366 (GRCm39) |
T395A |
probably benign |
Het |
| Dock2 |
T |
G |
11: 34,623,198 (GRCm39) |
H65P |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,759 (GRCm39) |
Q4164L |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,619,084 (GRCm39) |
Y96* |
probably null |
Het |
| Gja3 |
T |
A |
14: 57,273,161 (GRCm39) |
K404* |
probably null |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,401 (GRCm39) |
K464R |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,320,362 (GRCm39) |
I3948V |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,808,893 (GRCm39) |
R1090W |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,464 (GRCm39) |
H3234R |
unknown |
Het |
| Ifi207 |
T |
A |
1: 173,562,869 (GRCm39) |
E92D |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,810,186 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
T |
7: 127,732,939 (GRCm39) |
V273F |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,814,604 (GRCm39) |
M1043V |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,370,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Notch4 |
A |
G |
17: 34,797,071 (GRCm39) |
T940A |
probably damaging |
Het |
| Nudt15 |
T |
A |
14: 73,760,911 (GRCm39) |
Q60L |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,139,526 (GRCm39) |
V151A |
probably benign |
Het |
| Or52e7 |
T |
C |
7: 104,684,896 (GRCm39) |
C164R |
probably benign |
Het |
| Phip |
G |
A |
9: 82,758,179 (GRCm39) |
R1505* |
probably null |
Het |
| Ptger2 |
T |
G |
14: 45,226,784 (GRCm39) |
S121R |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,403 (GRCm39) |
F907L |
probably damaging |
Het |
| Silc1 |
T |
A |
12: 27,210,301 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
C |
A |
3: 54,225,433 (GRCm39) |
F843L |
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,531,867 (GRCm39) |
S173L |
possibly damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
|
| Other mutations in Ccser2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Ccser2
|
APN |
14 |
36,662,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Ccser2
|
APN |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01623:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02322:Ccser2
|
APN |
14 |
36,631,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Ccser2
|
APN |
14 |
36,640,562 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Ccser2
|
APN |
14 |
36,662,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0433:Ccser2
|
UTSW |
14 |
36,640,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Ccser2
|
UTSW |
14 |
36,662,149 (GRCm39) |
missense |
probably benign |
|
|
R0674:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0853:Ccser2
|
UTSW |
14 |
36,662,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0964:Ccser2
|
UTSW |
14 |
36,630,965 (GRCm39) |
splice site |
probably benign |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,271 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2405:Ccser2
|
UTSW |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ccser2
|
UTSW |
14 |
36,601,518 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4298:Ccser2
|
UTSW |
14 |
36,612,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4701:Ccser2
|
UTSW |
14 |
36,660,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Ccser2
|
UTSW |
14 |
36,631,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Ccser2
|
UTSW |
14 |
36,662,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Ccser2
|
UTSW |
14 |
36,662,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ccser2
|
UTSW |
14 |
36,662,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Ccser2
|
UTSW |
14 |
36,601,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5378:Ccser2
|
UTSW |
14 |
36,601,391 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6011:Ccser2
|
UTSW |
14 |
36,601,532 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6057:Ccser2
|
UTSW |
14 |
36,663,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6180:Ccser2
|
UTSW |
14 |
36,662,276 (GRCm39) |
missense |
probably benign |
|
|
R6216:Ccser2
|
UTSW |
14 |
36,662,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Ccser2
|
UTSW |
14 |
36,662,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6266:Ccser2
|
UTSW |
14 |
36,601,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Ccser2
|
UTSW |
14 |
36,601,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Ccser2
|
UTSW |
14 |
36,662,038 (GRCm39) |
missense |
probably benign |
|
|
R7025:Ccser2
|
UTSW |
14 |
36,661,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Ccser2
|
UTSW |
14 |
36,661,786 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7092:Ccser2
|
UTSW |
14 |
36,662,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7353:Ccser2
|
UTSW |
14 |
36,663,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7440:Ccser2
|
UTSW |
14 |
36,620,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7509:Ccser2
|
UTSW |
14 |
36,660,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Ccser2
|
UTSW |
14 |
36,601,457 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7770:Ccser2
|
UTSW |
14 |
36,648,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ccser2
|
UTSW |
14 |
36,618,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Ccser2
|
UTSW |
14 |
36,618,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8456:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8805:Ccser2
|
UTSW |
14 |
36,601,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Ccser2
|
UTSW |
14 |
36,601,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Ccser2
|
UTSW |
14 |
36,662,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Ccser2
|
UTSW |
14 |
36,660,737 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9425:Ccser2
|
UTSW |
14 |
36,601,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9502:Ccser2
|
UTSW |
14 |
36,631,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9644:Ccser2
|
UTSW |
14 |
36,601,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0066:Ccser2
|
UTSW |
14 |
36,662,956 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTCGTTCTTCCCAGTCTGG -3'
(R):5'- CGCATTCCTTCAACAGAGCTG -3'
Sequencing Primer
(F):5'- AGTCTGGTCATTGTCTCTTCGGTAAC -3'
(R):5'- TTCCTTCAACAGAGCTGTAGAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation