Incidental Mutation 'R9310:Cc2d2a'
| ID |
705459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R9310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43695146 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 404
(F404S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048150
AA Change: F404S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: F404S
| 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 damaging
Transcript: ENSMUST00000125866
AA Change: F355S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: F355S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 116,972,120 (GRCm38) |
I83V |
possibly damaging |
Het |
| Abcf1 |
G |
A |
17: 35,961,729 (GRCm38) |
A288V |
probably null |
Het |
| Acer1 |
A |
T |
17: 56,955,598 (GRCm38) |
V184D |
probably damaging |
Het |
| Apoh |
T |
C |
11: 108,407,481 (GRCm38) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,686,314 (GRCm38) |
Y959C |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,028,962 (GRCm38) |
H84L |
probably benign |
Het |
| Atxn1 |
A |
C |
13: 45,568,018 (GRCm38) |
Y134D |
probably damaging |
Het |
| BC055324 |
A |
G |
1: 163,964,520 (GRCm38) |
C610R |
probably damaging |
Het |
| Btbd1 |
T |
C |
7: 81,829,237 (GRCm38) |
Y52C |
probably damaging |
Het |
| Cabp2 |
A |
G |
19: 4,086,464 (GRCm38) |
D170G |
probably damaging |
Het |
| Cacna1a |
C |
A |
8: 84,536,417 (GRCm38) |
A407E |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,271,953 (GRCm38) |
|
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,947,336 (GRCm38) |
M281T |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,962,315 (GRCm38) |
M1694K |
unknown |
Het |
| Chd6 |
G |
T |
2: 161,039,261 (GRCm38) |
T261K |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 134,229,019 (GRCm38) |
S585G |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,001,347 (GRCm38) |
Y312F |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,338,313 (GRCm38) |
Y146* |
probably null |
Het |
| Col28a1 |
T |
C |
6: 8,175,414 (GRCm38) |
K145E |
unknown |
Het |
| Coq8b |
T |
A |
7: 27,242,061 (GRCm38) |
I221N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,814,781 (GRCm38) |
L375* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,433 (GRCm38) |
F4214S |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,294,139 (GRCm38) |
F1067S |
possibly damaging |
Het |
| Dpp6 |
G |
A |
5: 27,631,441 (GRCm38) |
A310T |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,725,644 (GRCm38) |
L825I |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,113,705 (GRCm38) |
V929A |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,189,316 (GRCm38) |
D45H |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,296,850 (GRCm38) |
|
probably null |
Het |
| Gm4847 |
T |
C |
1: 166,632,712 (GRCm38) |
R402G |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,026,805 (GRCm38) |
L194S |
probably damaging |
Het |
| Heatr1 |
A |
T |
13: 12,438,610 (GRCm38) |
H2122L |
probably benign |
Het |
| Il17b |
T |
A |
18: 61,692,263 (GRCm38) |
C123* |
probably null |
Het |
| Il17rc |
T |
C |
6: 113,474,249 (GRCm38) |
L181P |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,397,928 (GRCm38) |
I619L |
probably benign |
Het |
| Itgax |
C |
A |
7: 128,142,260 (GRCm38) |
Y814* |
probably null |
Het |
| Marcks |
C |
T |
10: 37,136,491 (GRCm38) |
E183K |
unknown |
Het |
| Mefv |
T |
C |
16: 3,715,388 (GRCm38) |
T340A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,351,713 (GRCm38) |
K958R |
probably benign |
Het |
| Mkl2 |
T |
A |
16: 13,401,090 (GRCm38) |
D533E |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,469,377 (GRCm38) |
L811Q |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,254,744 (GRCm38) |
Y1351C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,263,696 (GRCm38) |
M2406V |
probably benign |
Het |
| Nebl |
T |
C |
2: 17,348,867 (GRCm38) |
T214A |
probably benign |
Het |
| Nlrx1 |
A |
T |
9: 44,253,408 (GRCm38) |
I913N |
probably damaging |
Het |
| Npr2 |
G |
T |
4: 43,632,404 (GRCm38) |
A74S |
probably benign |
Het |
| Olfr1220 |
T |
A |
2: 89,097,913 (GRCm38) |
S5C |
probably damaging |
Het |
| Olfr711 |
C |
A |
7: 106,971,471 (GRCm38) |
C291F |
probably damaging |
Het |
| Olfr794 |
T |
A |
10: 129,570,818 (GRCm38) |
N54K |
probably benign |
Het |
| Pard3b |
G |
T |
1: 62,166,369 (GRCm38) |
V441F |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,090,072 (GRCm38) |
R4K |
probably benign |
Het |
| Pisd |
G |
T |
5: 32,737,440 (GRCm38) |
N337K |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,249,662 (GRCm38) |
K10R |
probably benign |
Het |
| Prkci |
T |
C |
3: 31,029,515 (GRCm38) |
W132R |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,155,999 (GRCm38) |
M1225K |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,509,934 (GRCm38) |
D309G |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,002,052 (GRCm38) |
G743S |
probably damaging |
Het |
| Rab29 |
A |
T |
1: 131,872,122 (GRCm38) |
E145V |
probably damaging |
Het |
| Rasef |
C |
T |
4: 73,735,719 (GRCm38) |
|
probably null |
Het |
| Rcbtb1 |
T |
G |
14: 59,235,250 (GRCm38) |
I496S |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,099,959 (GRCm38) |
Y228H |
|
Het |
| Reep5 |
C |
T |
18: 34,357,169 (GRCm38) |
V92I |
probably damaging |
Het |
| Rfx3 |
T |
C |
19: 27,849,929 (GRCm38) |
S86G |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,397,077 (GRCm38) |
D572E |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,176,446 (GRCm38) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,315,085 (GRCm38) |
E1630G |
possibly damaging |
Het |
| Sele |
G |
A |
1: 164,049,406 (GRCm38) |
V84I |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,732,497 (GRCm38) |
D31G |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,149,554 (GRCm38) |
I244V |
probably benign |
Het |
| Serpinb6e |
A |
G |
13: 33,833,221 (GRCm38) |
V272A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,035,540 (GRCm38) |
D150G |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,722,600 (GRCm38) |
T265A |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,416,370 (GRCm38) |
M389K |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,554,488 (GRCm38) |
C35S |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,499,894 (GRCm38) |
V650E |
possibly damaging |
Het |
| Slit2 |
T |
C |
5: 48,192,226 (GRCm38) |
V274A |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,795,937 (GRCm38) |
E593G |
probably null |
Het |
| Spata2l |
C |
T |
8: 123,234,134 (GRCm38) |
V139M |
probably benign |
Het |
| Suco |
T |
C |
1: 161,856,858 (GRCm38) |
K231R |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,555,900 (GRCm38) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,827,269 (GRCm38) |
S2415P |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,696,727 (GRCm38) |
A274D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,239 (GRCm38) |
I447T |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 85,051,202 (GRCm38) |
L355F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,747,702 (GRCm38) |
N152S |
possibly damaging |
Het |
| Vgf |
A |
G |
5: 137,032,256 (GRCm38) |
Q424R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,392,124 (GRCm38) |
M81K |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,346,218 (GRCm38) |
A732V |
possibly damaging |
Het |
| Wdr63 |
C |
T |
3: 146,097,140 (GRCm38) |
|
probably null |
Het |
| Xrcc3 |
T |
G |
12: 111,805,051 (GRCm38) |
D213A |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,996,976 (GRCm38) |
T690A |
probably benign |
Het |
| Zfat |
G |
A |
15: 68,084,401 (GRCm38) |
S1212L |
probably damaging |
Het |
| Zfp623 |
C |
T |
15: 75,948,100 (GRCm38) |
L302F |
probably damaging |
Het |
| Zfp799 |
A |
C |
17: 32,820,759 (GRCm38) |
C178G |
possibly damaging |
Het |
| Zfy1 |
T |
C |
Y: 727,634 (GRCm38) |
E348G |
unknown |
Het |
| Zhx3 |
A |
G |
2: 160,779,473 (GRCm38) |
W925R |
possibly 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 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,740,828 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AAATGCTCCAGGCCATCAGC -3'
(R):5'- TGGGTTAATCAGAAGAACCAGCC -3'
Sequencing Primer
(F):5'- TCAGCAGCAAAACACAAGACTTTAAG -3'
(R):5'- GTTAATCAGAAGAACCAGCCCCATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation