Incidental Mutation 'R7025:Ccser2'
ID |
545925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser2
|
Ensembl Gene |
ENSMUSG00000058690 |
Gene Name |
coiled-coil serine rich 2 |
Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
MMRRC Submission |
045126-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R7025 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36661964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 407
(N407D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000183038]
|
AlphaFold |
Q3UHI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067700
AA Change: N407D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068550 Gene: ENSMUSG00000058690 AA Change: N407D
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 damaging
Transcript: ENSMUST00000090024
AA Change: N407D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087478 Gene: ENSMUSG00000058690 AA Change: N407D
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
Nop56 |
C |
T |
2: 130,119,801 (GRCm39) |
R81* |
probably null |
Het |
Npnt |
C |
T |
3: 132,614,157 (GRCm39) |
C47Y |
probably damaging |
Het |
Nrp1 |
G |
T |
8: 129,207,435 (GRCm39) |
C610F |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,054,706 (GRCm39) |
I65V |
possibly damaging |
Het |
Slc22a29 |
G |
A |
19: 8,137,944 (GRCm39) |
P544S |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly damaging |
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 |
R3846:Ccser2
|
UTSW |
14 |
36,662,245 (GRCm39) |
missense |
probably benign |
|
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 |
|
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'- AGCTTTACTGAAGGCCTGCTC -3'
(R):5'- ATTTTCTGGGCCCATGACAG -3'
Sequencing Primer
(F):5'- GAAGGCCTGCTCACTTTCCTTAG -3'
(R):5'- ACCTGCTGACATGTGCGTAGAG -3'
|
Posted On |
2019-05-13 |