Incidental Mutation 'R8194:Ccser2'
ID |
635367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser2
|
Ensembl Gene |
ENSMUSG00000058690 |
Gene Name |
coiled-coil serine rich 2 |
Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
MMRRC Submission |
067617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R8194 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36618220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 772
(R772W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000182042]
[ENSMUST00000182576]
[ENSMUST00000182797]
[ENSMUST00000183038]
[ENSMUST00000183316]
|
AlphaFold |
Q3UHI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067700
AA Change: R772W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068550 Gene: ENSMUSG00000058690 AA Change: R772W
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: R772W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087478 Gene: ENSMUSG00000058690 AA Change: R772W
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 damaging
Transcript: ENSMUST00000182042
AA Change: R200W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138453 Gene: ENSMUSG00000058690 AA Change: R200W
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182576
|
SMART Domains |
Protein: ENSMUSP00000138318 Gene: ENSMUSG00000058690
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182797
AA Change: R200W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138787 Gene: ENSMUSG00000058690 AA Change: R200W
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183038
AA Change: R219W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138718 Gene: ENSMUSG00000058690 AA Change: R219W
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: ENSMUST00000183316
AA Change: R140W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138100 Gene: ENSMUSG00000058690 AA Change: R140W
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
coiled coil region
|
78 |
115 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4a |
T |
A |
12: 71,106,889 (GRCm39) |
Y320* |
probably null |
Het |
Ash1l |
T |
A |
3: 88,960,062 (GRCm39) |
C2265S |
probably damaging |
Het |
Atg4b |
T |
A |
1: 93,713,694 (GRCm39) |
C55* |
probably null |
Het |
Cacna1s |
A |
T |
1: 136,005,430 (GRCm39) |
N405I |
probably benign |
Het |
Capn11 |
A |
T |
17: 45,944,325 (GRCm39) |
D526E |
probably damaging |
Het |
Ccdc188 |
A |
G |
16: 18,036,244 (GRCm39) |
R71G |
probably benign |
Het |
Cenpf |
T |
A |
1: 189,414,600 (GRCm39) |
E172D |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,861,400 (GRCm39) |
M627V |
probably null |
Het |
Chd1 |
G |
A |
17: 17,594,737 (GRCm39) |
|
probably benign |
Het |
Cnst |
A |
G |
1: 179,437,759 (GRCm39) |
H441R |
probably benign |
Het |
Cyp2d11 |
G |
T |
15: 82,274,638 (GRCm39) |
T313N |
probably damaging |
Het |
Cyp2g1 |
A |
G |
7: 26,514,159 (GRCm39) |
N255S |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,453,414 (GRCm39) |
D4395G |
probably damaging |
Het |
Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Gpsm1 |
CT |
CTT |
2: 26,217,364 (GRCm39) |
|
probably null |
Het |
Lama4 |
A |
G |
10: 38,954,716 (GRCm39) |
S1090G |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,929,931 (GRCm39) |
D1479G |
unknown |
Het |
Man2a2 |
T |
C |
7: 80,010,766 (GRCm39) |
K742E |
probably benign |
Het |
Mapk8 |
A |
T |
14: 33,104,241 (GRCm39) |
S392T |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,559,117 (GRCm39) |
I53T |
probably damaging |
Het |
Mcmdc2 |
A |
G |
1: 9,986,867 (GRCm39) |
I219V |
probably benign |
Het |
Mlycd |
A |
T |
8: 120,134,332 (GRCm39) |
E278V |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,290,801 (GRCm39) |
C29F |
|
Het |
Mup20 |
T |
C |
4: 61,971,721 (GRCm39) |
I77V |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,982,828 (GRCm39) |
E849G |
probably damaging |
Het |
Nedd4 |
A |
G |
9: 72,593,389 (GRCm39) |
N154S |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,454,502 (GRCm39) |
G429E |
probably benign |
Het |
Or1e1f |
A |
T |
11: 73,856,240 (GRCm39) |
I269F |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,877,678 (GRCm39) |
N411I |
probably damaging |
Het |
Plekhm1 |
A |
G |
11: 103,285,886 (GRCm39) |
I183T |
possibly damaging |
Het |
Prkar2a |
G |
A |
9: 108,569,710 (GRCm39) |
V19M |
probably damaging |
Het |
Prss35 |
T |
G |
9: 86,637,666 (GRCm39) |
N145K |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,291,747 (GRCm39) |
D251E |
possibly damaging |
Het |
Rnf169 |
C |
A |
7: 99,575,651 (GRCm39) |
V315F |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,455,761 (GRCm39) |
Y139H |
probably damaging |
Het |
Slc5a2 |
T |
C |
7: 127,870,328 (GRCm39) |
V522A |
probably benign |
Het |
Slc6a6 |
A |
T |
6: 91,717,952 (GRCm39) |
Q297L |
probably damaging |
Het |
Sos2 |
A |
C |
12: 69,645,598 (GRCm39) |
Y914D |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,195,614 (GRCm39) |
T32N |
possibly damaging |
Het |
Srcap |
C |
T |
7: 127,138,369 (GRCm39) |
R1180C |
probably damaging |
Het |
St14 |
A |
T |
9: 31,042,921 (GRCm39) |
M1K |
probably null |
Het |
Tcaf1 |
T |
C |
6: 42,652,236 (GRCm39) |
T749A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,141,621 (GRCm39) |
|
probably null |
Het |
Tle6 |
A |
G |
10: 81,426,888 (GRCm39) |
V576A |
probably damaging |
Het |
Usp17lc |
T |
A |
7: 103,067,407 (GRCm39) |
M234K |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,416,163 (GRCm39) |
I818V |
possibly damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,341,165 (GRCm39) |
L236P |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,411,610 (GRCm39) |
D189G |
probably benign |
Het |
Zfp474 |
A |
T |
18: 52,772,229 (GRCm39) |
D294V |
probably damaging |
Het |
Zfp568 |
T |
C |
7: 29,722,758 (GRCm39) |
F568L |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,975,479 (GRCm39) |
K488R |
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 |
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 |
|
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 |
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'- GGGCCACAGTATGCAGAATG -3'
(R):5'- TGAGTCGGCCTGCTCTTCTATG -3'
Sequencing Primer
(F):5'- GCACATTCGCTTGTATAGAACAC -3'
(R):5'- ATGACAGCCTTTAACTGCCTGTG -3'
|
Posted On |
2020-07-13 |