Incidental Mutation 'R1881:Cc2d2a'
| ID |
209104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43740828 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1626
(V1626F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047857]
[ENSMUST00000048150]
[ENSMUST00000114047]
[ENSMUST00000119523]
[ENSMUST00000125866]
[ENSMUST00000196483]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047857
|
| SMART Domains |
Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hemerythrin
|
6 |
138 |
1.3e-10 |
PFAM |
|
FBOX
|
208 |
248 |
2.31e-9 |
SMART |
|
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
|
LRR
|
355 |
379 |
2.43e2 |
SMART |
|
LRR
|
382 |
407 |
4.87e-4 |
SMART |
|
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
LRR
|
596 |
621 |
2.45e0 |
SMART |
|
LRR
|
624 |
649 |
4.65e-1 |
SMART |
|
Blast:LRR
|
650 |
681 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048150
AA Change: V1626F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: V1626F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
501 |
N/A |
INTRINSIC |
|
coiled coil region
|
553 |
582 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
645 |
817 |
2e-36 |
PFAM |
|
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
|
C2
|
1048 |
1208 |
3.43e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114047
|
| SMART Domains |
Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hemerythrin
|
19 |
132 |
4.4e-11 |
PFAM |
|
FBOX
|
202 |
242 |
2.31e-9 |
SMART |
|
low complexity region
|
283 |
304 |
N/A |
INTRINSIC |
|
LRR
|
349 |
373 |
2.43e2 |
SMART |
|
LRR
|
376 |
401 |
4.87e-4 |
SMART |
|
low complexity region
|
475 |
486 |
N/A |
INTRINSIC |
|
LRR
|
590 |
615 |
2.45e0 |
SMART |
|
LRR
|
618 |
643 |
4.65e-1 |
SMART |
|
Blast:LRR
|
644 |
675 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119523
|
| SMART Domains |
Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hemerythrin
|
6 |
121 |
2.2e-9 |
PFAM |
|
FBOX
|
191 |
231 |
2.31e-9 |
SMART |
|
low complexity region
|
272 |
293 |
N/A |
INTRINSIC |
|
LRR
|
338 |
362 |
2.43e2 |
SMART |
|
LRR
|
365 |
390 |
4.87e-4 |
SMART |
|
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
|
LRR
|
579 |
604 |
2.45e0 |
SMART |
|
LRR
|
607 |
632 |
4.65e-1 |
SMART |
|
Blast:LRR
|
633 |
664 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125866
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
504 |
533 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
596 |
768 |
7.7e-44 |
PFAM |
|
low complexity region
|
970 |
982 |
N/A |
INTRINSIC |
|
C2
|
994 |
1154 |
2.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141902
|
| SMART Domains |
Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3V5Z|B
|
2 |
82 |
3e-43 |
PDB |
|
FBOX
|
129 |
169 |
2.31e-9 |
SMART |
|
low complexity region
|
210 |
231 |
N/A |
INTRINSIC |
|
LRR
|
276 |
300 |
2.43e2 |
SMART |
|
LRR
|
303 |
328 |
4.87e-4 |
SMART |
|
low complexity region
|
402 |
413 |
N/A |
INTRINSIC |
|
LRR
|
517 |
542 |
2.45e0 |
SMART |
|
LRR
|
545 |
570 |
4.65e-1 |
SMART |
|
Blast:LRR
|
571 |
602 |
3e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196483
|
| SMART Domains |
Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hemerythrin
|
6 |
138 |
1.3e-10 |
PFAM |
|
FBOX
|
208 |
248 |
2.31e-9 |
SMART |
|
low complexity region
|
289 |
309 |
N/A |
INTRINSIC |
|
LRR
|
354 |
378 |
2.43e2 |
SMART |
|
LRR
|
381 |
406 |
4.87e-4 |
SMART |
|
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
|
LRR
|
595 |
620 |
2.45e0 |
SMART |
|
LRR
|
623 |
648 |
4.65e-1 |
SMART |
|
Blast:LRR
|
649 |
680 |
2e-13 |
BLAST |
|
| Meta Mutation Damage Score |
0.1661 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
| Validation Efficiency |
96% (71/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921501E09Rik |
T |
A |
17: 33,065,284 (GRCm38) |
D848V |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,300,471 (GRCm38) |
|
probably benign |
Het |
| Acaca |
C |
A |
11: 84,270,387 (GRCm38) |
Y1026* |
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,806,654 (GRCm38) |
M483I |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 130,010,285 (GRCm38) |
G735S |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,050,173 (GRCm38) |
T2612A |
probably benign |
Het |
| Armc1 |
A |
T |
3: 19,134,896 (GRCm38) |
S202T |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,438,837 (GRCm38) |
S411P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,981,555 (GRCm38) |
V247A |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,672,016 (GRCm38) |
D935G |
probably benign |
Het |
| Cpne3 |
T |
A |
4: 19,535,266 (GRCm38) |
R255S |
probably benign |
Het |
| Cramp1l |
A |
G |
17: 24,977,682 (GRCm38) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,292,535 (GRCm38) |
|
probably null |
Het |
| Cstf3 |
A |
T |
2: 104,654,218 (GRCm38) |
M396L |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 31,005,081 (GRCm38) |
|
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,651,962 (GRCm38) |
Y173F |
probably damaging |
Het |
| Dach1 |
A |
T |
14: 97,901,396 (GRCm38) |
M537K |
probably benign |
Het |
| Ddhd2 |
T |
C |
8: 25,727,700 (GRCm38) |
I717V |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,323,730 (GRCm38) |
V475I |
probably damaging |
Het |
| Dnm3 |
C |
T |
1: 162,477,948 (GRCm38) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,272,540 (GRCm38) |
|
probably benign |
Het |
| Eaf2 |
A |
T |
16: 36,800,579 (GRCm38) |
|
probably benign |
Het |
| En1 |
T |
A |
1: 120,603,175 (GRCm38) |
V48E |
unknown |
Het |
| Eral1 |
T |
A |
11: 78,076,049 (GRCm38) |
H180L |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,478,046 (GRCm38) |
C2760S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,584,273 (GRCm38) |
A113V |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,638,900 (GRCm38) |
V3574M |
probably benign |
Het |
| Ifnl2 |
T |
A |
7: 28,509,687 (GRCm38) |
R68W |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,504,413 (GRCm38) |
T908A |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,628,164 (GRCm38) |
G7S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,349,940 (GRCm38) |
E631G |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,834,631 (GRCm38) |
E52* |
probably null |
Het |
| Myh15 |
A |
G |
16: 49,071,083 (GRCm38) |
I189V |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,852,559 (GRCm38) |
Q619L |
probably damaging |
Het |
| Olfr298 |
T |
C |
7: 86,489,438 (GRCm38) |
M38V |
probably benign |
Het |
| Olfr513 |
T |
C |
7: 108,755,128 (GRCm38) |
S91P |
probably damaging |
Het |
| Olfr59 |
A |
T |
11: 74,288,666 (GRCm38) |
T7S |
probably benign |
Het |
| Olfr733 |
A |
G |
14: 50,299,015 (GRCm38) |
I98T |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,923,151 (GRCm38) |
T161A |
probably benign |
Het |
| Pigs |
T |
C |
11: 78,341,756 (GRCm38) |
V472A |
probably benign |
Het |
| Plek |
A |
T |
11: 16,990,111 (GRCm38) |
N176K |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,398,731 (GRCm38) |
N168S |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,135,596 (GRCm38) |
A219D |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,015,212 (GRCm38) |
S716T |
probably damaging |
Het |
| Sema4b |
A |
T |
7: 80,216,792 (GRCm38) |
S207C |
probably damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,680,209 (GRCm38) |
|
probably null |
Het |
| Slc5a6 |
A |
T |
5: 31,036,811 (GRCm38) |
L634Q |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,213,376 (GRCm38) |
I235V |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,175,099 (GRCm38) |
L407Q |
probably damaging |
Het |
| Spata32 |
T |
C |
11: 103,210,735 (GRCm38) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,486,347 (GRCm38) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,436,702 (GRCm38) |
V726A |
probably benign |
Het |
| Tmed7 |
A |
T |
18: 46,588,555 (GRCm38) |
|
probably null |
Het |
| Tmem161a |
G |
A |
8: 70,180,785 (GRCm38) |
G94S |
probably null |
Het |
| Tmem81 |
T |
A |
1: 132,508,210 (GRCm38) |
|
probably benign |
Het |
| Trim63 |
C |
A |
4: 134,316,391 (GRCm38) |
A55E |
probably damaging |
Het |
| Trmt1 |
A |
C |
8: 84,689,267 (GRCm38) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,623,626 (GRCm38) |
V814M |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,771,654 (GRCm38) |
S1023P |
possibly damaging |
Het |
| Upk3bl |
G |
A |
5: 136,057,303 (GRCm38) |
R31Q |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,994,271 (GRCm38) |
D290G |
probably benign |
Het |
| Vmn1r192 |
G |
T |
13: 22,187,594 (GRCm38) |
A152E |
probably benign |
Het |
| Vmn1r26 |
T |
A |
6: 58,008,665 (GRCm38) |
T180S |
probably benign |
Het |
| Wdr48 |
G |
T |
9: 119,909,540 (GRCm38) |
V89L |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,573,179 (GRCm38) |
|
probably null |
Het |
| Zfp345 |
A |
G |
2: 150,472,355 (GRCm38) |
Y421H |
probably damaging |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,724,380 (GRCm38) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,688,122 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,689,003 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,723,784 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,684,185 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,688,969 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,688,237 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,683,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,685,248 (GRCm38) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,735,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,683,205 (GRCm38) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,718,554 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,688,910 (GRCm38) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,714,521 (GRCm38) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,728,294 (GRCm38) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,671,266 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,732,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,735,457 (GRCm38) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,684,199 (GRCm38) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,736,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,737,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0211:Cc2d2a
|
UTSW |
5 |
43,688,266 (GRCm38) |
splice site |
probably null |
|
|
R0243:Cc2d2a
|
UTSW |
5 |
43,696,638 (GRCm38) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,706,901 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,703,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,724,387 (GRCm38) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,730,029 (GRCm38) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,681,381 (GRCm38) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,722,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,739,371 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,723,688 (GRCm38) |
splice site |
probably null |
|
|
R1715:Cc2d2a
|
UTSW |
5 |
43,718,661 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,714,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,688,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,706,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,726,373 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,684,033 (GRCm38) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,732,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,703,888 (GRCm38) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,671,305 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,735,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,685,251 (GRCm38) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,736,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,718,714 (GRCm38) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,718,691 (GRCm38) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,683,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,739,323 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,688,221 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,720,433 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,706,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,730,041 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,695,176 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,709,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,729,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,722,462 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,712,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,715,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,712,426 (GRCm38) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,720,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,729,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,668,673 (GRCm38) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,703,198 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,671,235 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,715,776 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,704,074 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,739,412 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,718,677 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,681,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,703,215 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,718,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,733,929 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,699,979 (GRCm38) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,683,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,729,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,706,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,739,309 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,695,296 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,706,100 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,712,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,710,554 (GRCm38) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,699,953 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,736,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,688,228 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,685,144 (GRCm38) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,735,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,739,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,703,303 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,699,943 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,710,542 (GRCm38) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,673,739 (GRCm38) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,703,221 (GRCm38) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,733,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,695,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,718,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,703,349 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,703,204 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTCATGATCCTCAAGGC -3'
(R):5'- AGTCAGGTAGTGTCACGAGG -3'
Sequencing Primer
(F):5'- ACAAATATGTTCTTTCTCCTCAGTTC -3'
(R):5'- TAGTGTCACGAGGAGACAGAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation