Incidental Mutation 'R7440:Ccser2'
ID |
576917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser2
|
Ensembl Gene |
ENSMUSG00000058690 |
Gene Name |
coiled-coil serine rich 2 |
Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
MMRRC Submission |
045516-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R7440 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36620174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 727
(K727E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000182042]
[ENSMUST00000182576]
[ENSMUST00000182797]
[ENSMUST00000183007]
[ENSMUST00000183038]
[ENSMUST00000183316]
|
AlphaFold |
Q3UHI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067700
AA Change: K727E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068550 Gene: ENSMUSG00000058690 AA Change: K727E
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 |
possibly damaging
Transcript: ENSMUST00000090024
AA Change: K727E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087478 Gene: ENSMUSG00000058690 AA Change: K727E
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 |
possibly damaging
Transcript: ENSMUST00000182042
AA Change: K155E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138453 Gene: ENSMUSG00000058690 AA Change: K155E
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 |
possibly damaging
Transcript: ENSMUST00000182797
AA Change: K155E
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138787 Gene: ENSMUSG00000058690 AA Change: K155E
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: ENSMUST00000183007
AA Change: K64E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183038
AA Change: K174E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138718 Gene: ENSMUSG00000058690 AA Change: K174E
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 |
possibly damaging
Transcript: ENSMUST00000183316
AA Change: K95E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138100 Gene: ENSMUSG00000058690 AA Change: K95E
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
G |
A |
3: 153,628,626 (GRCm39) |
T403I |
probably damaging |
Het |
Adat1 |
A |
T |
8: 112,716,530 (GRCm39) |
M64K |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,944,786 (GRCm39) |
V199M |
probably damaging |
Het |
Ankrd13a |
T |
C |
5: 114,941,636 (GRCm39) |
S508P |
possibly damaging |
Het |
Ap1g1 |
T |
A |
8: 110,529,356 (GRCm39) |
|
probably null |
Het |
Bicral |
C |
T |
17: 47,136,710 (GRCm39) |
G167R |
probably damaging |
Het |
Cep350 |
T |
G |
1: 155,816,518 (GRCm39) |
K332N |
probably damaging |
Het |
Cfap68 |
A |
G |
9: 50,676,213 (GRCm39) |
V35A |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,469,108 (GRCm39) |
N1811S |
probably benign |
Het |
Chpf |
A |
T |
1: 75,452,245 (GRCm39) |
V565D |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,098,652 (GRCm39) |
L489H |
probably damaging |
Het |
Cntln |
C |
A |
4: 84,981,453 (GRCm39) |
T877K |
possibly damaging |
Het |
Cog4 |
T |
C |
8: 111,606,338 (GRCm39) |
V630A |
probably benign |
Het |
Col6a5 |
G |
T |
9: 105,758,630 (GRCm39) |
S2192* |
probably null |
Het |
Cry2 |
G |
A |
2: 92,243,983 (GRCm39) |
R397W |
probably damaging |
Het |
Cstdc2 |
A |
C |
2: 148,688,911 (GRCm39) |
C109W |
probably damaging |
Het |
Cyp1b1 |
T |
C |
17: 80,020,986 (GRCm39) |
N252S |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,356,977 (GRCm39) |
I91V |
probably benign |
Het |
Dnajb6 |
G |
A |
5: 29,962,857 (GRCm39) |
A256T |
possibly damaging |
Het |
Epm2a |
T |
G |
10: 11,266,619 (GRCm39) |
Y121* |
probably null |
Het |
Erlec1 |
T |
C |
11: 30,900,818 (GRCm39) |
I117V |
possibly damaging |
Het |
Exoc8 |
T |
C |
8: 125,622,520 (GRCm39) |
M616V |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Fuz |
T |
C |
7: 44,545,996 (GRCm39) |
L46P |
probably damaging |
Het |
Insc |
T |
C |
7: 114,444,278 (GRCm39) |
S422P |
possibly damaging |
Het |
Intu |
A |
G |
3: 40,651,981 (GRCm39) |
I813V |
probably benign |
Het |
Jak3 |
T |
A |
8: 72,133,362 (GRCm39) |
S352T |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
Lrrc63 |
T |
C |
14: 75,358,453 (GRCm39) |
N400D |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,940,602 (GRCm39) |
D760G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,349,239 (GRCm39) |
L3976* |
probably null |
Het |
Map7 |
C |
T |
10: 20,137,605 (GRCm39) |
A259V |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,565,063 (GRCm39) |
D170E |
possibly damaging |
Het |
Mgat5b |
T |
A |
11: 116,859,271 (GRCm39) |
Y34* |
probably null |
Het |
Mgst1 |
A |
G |
6: 138,127,842 (GRCm39) |
K68R |
probably benign |
Het |
Miga1 |
T |
A |
3: 152,043,683 (GRCm39) |
|
probably null |
Het |
Mrps33 |
G |
A |
6: 39,779,413 (GRCm39) |
P94L |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,414,033 (GRCm39) |
G1068C |
possibly damaging |
Het |
Ndufaf7 |
C |
T |
17: 79,249,546 (GRCm39) |
H148Y |
probably damaging |
Het |
Nkx6-3 |
A |
T |
8: 23,643,770 (GRCm39) |
D57V |
probably damaging |
Het |
Nlrp1a |
T |
C |
11: 70,983,150 (GRCm39) |
D1272G |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,265,392 (GRCm39) |
N291S |
probably damaging |
Het |
Or1b1 |
A |
T |
2: 36,995,181 (GRCm39) |
H160Q |
possibly damaging |
Het |
Pld1 |
T |
G |
3: 28,095,419 (GRCm39) |
S251A |
probably benign |
Het |
Polr1h |
T |
A |
17: 37,268,736 (GRCm39) |
L75F |
probably benign |
Het |
Potefam3a |
C |
T |
8: 20,356,948 (GRCm38) |
S254N |
unknown |
Het |
Ppfibp1 |
T |
C |
6: 146,921,001 (GRCm39) |
S580P |
probably benign |
Het |
Prdx6b |
A |
T |
2: 80,123,560 (GRCm39) |
D123V |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,731,256 (GRCm39) |
L1050P |
possibly damaging |
Het |
Rcc1 |
A |
C |
4: 132,065,110 (GRCm39) |
S138A |
probably damaging |
Het |
Rimbp3 |
G |
T |
16: 17,031,065 (GRCm39) |
R1496S |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,429,054 (GRCm39) |
V371A |
probably benign |
Het |
Sfxn4 |
A |
G |
19: 60,830,642 (GRCm39) |
L260P |
possibly damaging |
Het |
Slc17a1 |
G |
A |
13: 24,062,466 (GRCm39) |
S211N |
possibly damaging |
Het |
Slc39a11 |
C |
T |
11: 113,452,918 (GRCm39) |
V8M |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,365,012 (GRCm39) |
I78T |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Syt17 |
A |
T |
7: 117,981,107 (GRCm39) |
V462E |
probably damaging |
Het |
Tlr11 |
T |
A |
14: 50,598,801 (GRCm39) |
D262E |
probably benign |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Trpv3 |
C |
A |
11: 73,168,800 (GRCm39) |
Q87K |
probably benign |
Het |
Ugt1a5 |
T |
C |
1: 88,094,281 (GRCm39) |
Y170H |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,584,296 (GRCm39) |
L562P |
probably damaging |
Het |
Usp3 |
G |
T |
9: 66,437,537 (GRCm39) |
N299K |
probably benign |
Het |
Vmn1r83 |
T |
C |
7: 12,055,556 (GRCm39) |
Y167C |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,539 (GRCm39) |
Y436F |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,854,981 (GRCm39) |
I2220T |
|
Het |
Zfp936 |
T |
A |
7: 42,836,685 (GRCm39) |
V32D |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,751,063 (GRCm39) |
C259R |
probably 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 |
|
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 |
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'- TGAACACAATGCTACATGAACCTTC -3'
(R):5'- TCATAAGTGCTGACCCAGGG -3'
Sequencing Primer
(F):5'- TGCTACATGAACCTTCAAAAGTC -3'
(R):5'- GCAGTTGCCATTAGACCATG -3'
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Posted On |
2019-10-07 |