Incidental Mutation 'R6011:Ccser2'
ID |
479770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccser2
|
Ensembl Gene |
ENSMUSG00000058690 |
Gene Name |
coiled-coil serine rich 2 |
Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
MMRRC Submission |
043253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R6011 (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 36601532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 837
(E837G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000182042]
[ENSMUST00000182576]
[ENSMUST00000182797]
[ENSMUST00000183007]
[ENSMUST00000183038]
[ENSMUST00000183316]
|
AlphaFold |
Q3UHI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067700
AA Change: E837G
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000068550 Gene: ENSMUSG00000058690 AA Change: E837G
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
|
SMART Domains |
Protein: ENSMUSP00000087478 Gene: ENSMUSG00000058690
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: ENSMUST00000182042
|
SMART Domains |
Protein: ENSMUSP00000138453 Gene: ENSMUSG00000058690
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 |
noncoding transcript
Transcript: ENSMUST00000182558
|
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 benign
Transcript: ENSMUST00000182797
|
SMART Domains |
Protein: ENSMUSP00000138787 Gene: ENSMUSG00000058690
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: ENSMUST00000183007
AA Change: E174G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183038
AA Change: E284G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000138718 Gene: ENSMUSG00000058690 AA Change: E284G
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: ENSMUST00000183316
|
SMART Domains |
Protein: ENSMUSP00000138100 Gene: ENSMUSG00000058690
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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
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 |
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'- TGAGGACATTGGTTTCTTCCACC -3'
(R):5'- AAGTACTACAGCCTTCCAGCAG -3'
Sequencing Primer
(F):5'- GTCCACTGTACTTGACTGGGAAG -3'
(R):5'- GCAGCCTTCCCAGATCTACAG -3'
|
Posted On |
2017-06-26 |