Incidental Mutation 'R7908:Cc2d2a'
| ID |
610265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| Accession Numbers |
Genbank: NM_172274; MGI: 1924487 |
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R7908 (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 43706846 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 763
(V763A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
AA Change: V763A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: V763A
| 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: ENSMUST00000125866
AA Change: V714A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: V714A
| 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: 98.6%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008L16Rik |
A |
T |
12: 55,379,465 (GRCm38) |
K533N |
possibly damaging |
Het |
| 1110032A03Rik |
T |
A |
9: 50,763,948 (GRCm38) |
T153S |
possibly damaging |
Het |
| 9530053A07Rik |
A |
T |
7: 28,147,496 (GRCm38) |
Y1168F |
probably benign |
Het |
| A4galt |
A |
G |
15: 83,228,376 (GRCm38) |
F69L |
probably benign |
Het |
| Acsf3 |
A |
G |
8: 122,785,823 (GRCm38) |
M328V |
probably damaging |
Het |
| Adam10 |
T |
G |
9: 70,761,764 (GRCm38) |
V454G |
possibly damaging |
Het |
| Adamts15 |
T |
C |
9: 30,902,226 (GRCm38) |
D881G |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,356,439 (GRCm38) |
V1244A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,405,534 (GRCm38) |
P123L |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,106,068 (GRCm38) |
I1331T |
possibly damaging |
Het |
| Arntl |
A |
T |
7: 113,313,473 (GRCm38) |
I579L |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,568,593 (GRCm38) |
|
probably benign |
Het |
| Btnl4 |
A |
G |
17: 34,473,187 (GRCm38) |
M147T |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,359,774 (GRCm38) |
K56E |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,366,245 (GRCm38) |
|
probably null |
Het |
| Cbln1 |
T |
A |
8: 87,472,096 (GRCm38) |
T49S |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,848,046 (GRCm38) |
Y249H |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 146,102,099 (GRCm38) |
L762H |
probably damaging |
Het |
| Cfap73 |
T |
C |
5: 120,630,058 (GRCm38) |
T212A |
probably benign |
Het |
| Cfi |
A |
G |
3: 129,848,584 (GRCm38) |
E29G |
probably benign |
Het |
| Chmp6 |
A |
T |
11: 119,913,830 (GRCm38) |
|
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,267,679 (GRCm38) |
T386A |
possibly damaging |
Het |
| Coq6 |
T |
A |
12: 84,371,166 (GRCm38) |
L268H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,362,202 (GRCm38) |
S225P |
probably benign |
Het |
| Dhx58 |
C |
A |
11: 100,695,304 (GRCm38) |
L630F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,900,773 (GRCm38) |
V158E |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,657,339 (GRCm38) |
T239A |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,703,361 (GRCm38) |
T346A |
probably damaging |
Het |
| Guca1b |
C |
G |
17: 47,391,177 (GRCm38) |
T185S |
unknown |
Het |
| H2-M5 |
T |
C |
17: 36,987,679 (GRCm38) |
T292A |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,727,576 (GRCm38) |
H455R |
probably benign |
Het |
| Hydin |
A |
G |
8: 110,510,867 (GRCm38) |
Y1924C |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,306,454 (GRCm38) |
V315M |
|
Het |
| Ildr2 |
A |
G |
1: 166,307,800 (GRCm38) |
K374E |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,225,842 (GRCm38) |
S1144P |
probably benign |
Het |
| Kcnj8 |
T |
C |
6: 142,566,029 (GRCm38) |
D284G |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,281,056 (GRCm38) |
|
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,402,234 (GRCm38) |
T160A |
probably benign |
Het |
| Lmod3 |
G |
T |
6: 97,248,473 (GRCm38) |
A129E |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,726,152 (GRCm38) |
C696R |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,407,965 (GRCm38) |
F86L |
probably benign |
Het |
| Mfsd7a |
T |
C |
5: 108,444,497 (GRCm38) |
I276V |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,228,984 (GRCm38) |
K170T |
probably benign |
Het |
| Mtcl1 |
A |
G |
17: 66,371,330 (GRCm38) |
I667T |
possibly damaging |
Het |
| Mtnr1a |
A |
T |
8: 45,087,826 (GRCm38) |
I275F |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,197,371 (GRCm38) |
I1938V |
probably benign |
Het |
| Npsr1 |
A |
T |
9: 24,289,800 (GRCm38) |
E160V |
probably damaging |
Het |
| Olfr156 |
T |
A |
4: 43,821,086 (GRCm38) |
I92F |
probably damaging |
Het |
| Olfr205 |
C |
T |
16: 59,329,243 (GRCm38) |
D89N |
possibly damaging |
Het |
| Olfr788 |
T |
A |
10: 129,472,998 (GRCm38) |
I102N |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,789,119 (GRCm38) |
Y418F |
probably damaging |
Het |
| Pak7 |
A |
G |
2: 136,116,559 (GRCm38) |
L203S |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,643,582 (GRCm38) |
E508D |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,642,450 (GRCm38) |
M1V |
probably null |
Het |
| Prpsap2 |
G |
T |
11: 61,756,272 (GRCm38) |
N14K |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,595,868 (GRCm38) |
V215E |
probably null |
Het |
| Ryr2 |
G |
A |
13: 11,792,748 (GRCm38) |
T845I |
probably benign |
Het |
| Scgb2b3 |
G |
A |
7: 31,362,014 (GRCm38) |
T20I |
probably damaging |
Het |
| Serpina1b |
T |
C |
12: 103,728,307 (GRCm38) |
I393V |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,259,064 (GRCm38) |
M207V |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,186,134 (GRCm38) |
L843M |
unknown |
Het |
| Sp100 |
T |
C |
1: 85,708,067 (GRCm38) |
V531A |
possibly damaging |
Het |
| Srsf6 |
T |
C |
2: 162,933,840 (GRCm38) |
S190P |
unknown |
Het |
| Stil |
A |
G |
4: 115,032,699 (GRCm38) |
K795E |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,251,927 (GRCm38) |
R705G |
probably benign |
Het |
| Tnfrsf11a |
T |
A |
1: 105,809,374 (GRCm38) |
C69S |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,421,449 (GRCm38) |
N252K |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,014,607 (GRCm38) |
K559* |
probably null |
Het |
| Ttbk1 |
C |
T |
17: 46,478,938 (GRCm38) |
R133H |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 182,157,350 (GRCm38) |
Y250C |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,086,441 (GRCm38) |
L635P |
probably damaging |
Het |
| Vmn2r52 |
C |
A |
7: 10,162,950 (GRCm38) |
V532L |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,569,170 (GRCm38) |
L1182* |
probably null |
Het |
| Washc2 |
A |
G |
6: 116,248,145 (GRCm38) |
D818G |
probably benign |
Het |
| Xylb |
T |
G |
9: 119,381,545 (GRCm38) |
S365A |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,720,720 (GRCm38) |
|
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,306,827 (GRCm38) |
I1455T |
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 |
|
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'- TAAGATGGTCTCTGGGGCAG -3'
(R):5'- TTCTGAACACACGTGAAGGC -3'
Sequencing Primer
(F):5'- GCACAGACACTAACAATGTAGATTG -3'
(R):5'- AGAGCCTTTACATGCTGAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation