Incidental Mutation 'R2165:Cad'
| ID |
235420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
040168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R2165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31219564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 621
(N621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000202795]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013773
AA Change: N684S
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: N684S
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.7e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.2e-15 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.8e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
1.5e-9 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.2e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.8e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
3.1e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
7.4e-12 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1924 |
2065 |
1.9e-44 |
PFAM |
|
Pfam:OTCace
|
2071 |
2221 |
7.6e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200953
AA Change: N621S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: N621S
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_D2
|
514 |
616 |
1.5e-34 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
625 |
2.4e-7 |
PFAM |
|
Pfam:CPSase_L_D2
|
614 |
655 |
4.9e-15 |
PFAM |
|
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
981 |
1160 |
1.7e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
984 |
1187 |
3e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
992 |
1159 |
2.1e-12 |
PFAM |
|
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1399 |
1667 |
7.1e-12 |
PFAM |
|
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
|
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1861 |
2002 |
1.8e-44 |
PFAM |
|
Pfam:OTCace
|
2008 |
2158 |
7.3e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201182
AA Change: N684S
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: N684S
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.1e-15 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.7e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
1.4e-9 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.1e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.7e-23 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
3e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
7.1e-12 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1949 |
1994 |
1.4e-11 |
PFAM |
|
Pfam:OTCace
|
2000 |
2150 |
7.3e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201838
AA Change: N684S
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629
AA Change: N684S
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
6.3e-48 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
1.9e-16 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
3.7e-86 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
2.5e-10 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
526 |
687 |
4.2e-11 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
SCOP:d1a9xa3
|
935 |
964 |
1e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202795
AA Change: N684S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: N684S
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
|
Pfam:GATase
|
179 |
356 |
1.9e-47 |
PFAM |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
511 |
692 |
5.9e-16 |
PFAM |
|
Pfam:CPSase_L_D2
|
514 |
718 |
1.2e-85 |
PFAM |
|
Pfam:ATP-grasp
|
522 |
690 |
7.3e-10 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
527 |
687 |
1.3e-10 |
PFAM |
|
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
|
Pfam:ATP-grasp_4
|
1044 |
1223 |
8.9e-24 |
PFAM |
|
Pfam:CPSase_L_D2
|
1047 |
1250 |
2.1e-28 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
1.3e-7 |
PFAM |
|
Pfam:ATP-grasp
|
1055 |
1222 |
1.1e-12 |
PFAM |
|
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
|
Pfam:Amidohydro_1
|
1462 |
1730 |
2.5e-11 |
PFAM |
|
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
|
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
|
Pfam:OTCace_N
|
1970 |
2004 |
4.6e-11 |
PFAM |
|
Pfam:OTCace
|
2010 |
2160 |
9.9e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202967
|
| Meta Mutation Damage Score |
0.9676 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (71/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,906,048 (GRCm39) |
T806A |
possibly damaging |
Het |
| Adgre1 |
T |
G |
17: 57,726,338 (GRCm39) |
L403R |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,133,398 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,763,210 (GRCm39) |
D506E |
possibly damaging |
Het |
| Ascc3 |
T |
G |
10: 50,597,935 (GRCm39) |
Y1268D |
probably damaging |
Het |
| Bik |
A |
G |
15: 83,425,624 (GRCm39) |
M42V |
probably benign |
Het |
| Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,643,201 (GRCm39) |
I1048V |
probably benign |
Het |
| Camkv |
C |
A |
9: 107,822,799 (GRCm39) |
N69K |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,876 (GRCm39) |
M589T |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,389,864 (GRCm39) |
V498E |
probably damaging |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,691 (GRCm39) |
L252P |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,390,953 (GRCm39) |
C690R |
probably damaging |
Het |
| Cfap157 |
T |
G |
2: 32,668,175 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
G |
5: 122,025,540 (GRCm39) |
S43P |
possibly damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,925,880 (GRCm39) |
P21S |
probably damaging |
Het |
| Cyp51 |
T |
G |
5: 4,136,594 (GRCm39) |
Q400P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,137,152 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,642,688 (GRCm39) |
V1104I |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,688 (GRCm39) |
I90M |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,378,523 (GRCm39) |
N269S |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,673,444 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,194,542 (GRCm39) |
F1166L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,686 (GRCm39) |
N260D |
probably benign |
Het |
| Fnbp4 |
T |
A |
2: 90,597,743 (GRCm39) |
|
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,733 (GRCm39) |
*360Y |
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,734 (GRCm39) |
*360L |
probably null |
Het |
| Gm3727 |
T |
A |
14: 7,264,625 (GRCm38) |
Q10L |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Haspin |
A |
C |
11: 73,027,456 (GRCm39) |
N544K |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,669,379 (GRCm39) |
N286S |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,436,246 (GRCm39) |
C1307G |
probably damaging |
Het |
| Lrrc2 |
A |
C |
9: 110,808,645 (GRCm39) |
H294P |
possibly damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,360 (GRCm39) |
|
probably null |
Het |
| Mon2 |
A |
C |
10: 122,878,269 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,070 (GRCm39) |
I281V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,294 (GRCm39) |
E118G |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,893,872 (GRCm39) |
D394G |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,047 (GRCm39) |
T168A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,211 (GRCm39) |
N207D |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,713 (GRCm39) |
C127S |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,845 (GRCm39) |
T239A |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,446 (GRCm39) |
N265K |
probably benign |
Het |
| Oxsr1 |
A |
C |
9: 119,123,498 (GRCm39) |
M92R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,945,516 (GRCm39) |
|
probably null |
Het |
| Pex5l |
T |
A |
3: 33,007,281 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,549,984 (GRCm39) |
M1025K |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,605,903 (GRCm39) |
E1325K |
probably benign |
Het |
| Plin2 |
A |
T |
4: 86,586,669 (GRCm39) |
V54E |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,887 (GRCm39) |
I298N |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,546 (GRCm39) |
R1017G |
probably benign |
Het |
| Psg19 |
T |
A |
7: 18,530,911 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Serpinb1a |
T |
C |
13: 33,034,397 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,266,794 (GRCm39) |
V265E |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,282 (GRCm39) |
Y337* |
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,968,663 (GRCm39) |
V138A |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,314 (GRCm39) |
Y220C |
probably damaging |
Het |
| Slc66a3 |
G |
A |
12: 17,039,840 (GRCm39) |
L192F |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,890,392 (GRCm39) |
S20T |
probably benign |
Het |
| Tcstv2a |
A |
T |
13: 120,725,633 (GRCm39) |
Q99L |
probably damaging |
Het |
| Thsd1 |
G |
T |
8: 22,728,538 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
G |
A |
17: 25,299,566 (GRCm39) |
|
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,540,721 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,612,072 (GRCm39) |
F655Y |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,553 (GRCm39) |
K852E |
unknown |
Het |
| Wdpcp |
T |
G |
11: 21,641,884 (GRCm39) |
L174R |
probably damaging |
Het |
| Zbbx |
G |
A |
3: 75,019,414 (GRCm39) |
P99S |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp600 |
A |
T |
4: 146,133,488 (GRCm39) |
R719* |
probably null |
Het |
| Zfp697 |
C |
A |
3: 98,335,330 (GRCm39) |
A365E |
unknown |
Het |
| Zfp957 |
A |
C |
14: 79,451,053 (GRCm39) |
S249A |
probably benign |
Het |
|
| Other mutations in Cad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Cad
|
APN |
5 |
31,218,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00908:Cad
|
APN |
5 |
31,216,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01068:Cad
|
APN |
5 |
31,219,114 (GRCm39) |
splice site |
probably benign |
|
|
IGL01638:Cad
|
APN |
5 |
31,224,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Cad
|
APN |
5 |
31,218,170 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02499:Cad
|
APN |
5 |
31,226,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Cad
|
APN |
5 |
31,212,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Cad
|
APN |
5 |
31,212,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4696001:Cad
|
UTSW |
5 |
31,229,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0212:Cad
|
UTSW |
5 |
31,235,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Cad
|
UTSW |
5 |
31,229,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0335:Cad
|
UTSW |
5 |
31,231,329 (GRCm39) |
unclassified |
probably benign |
|
|
R0401:Cad
|
UTSW |
5 |
31,231,330 (GRCm39) |
unclassified |
probably benign |
|
|
R0445:Cad
|
UTSW |
5 |
31,230,053 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0494:Cad
|
UTSW |
5 |
31,234,856 (GRCm39) |
unclassified |
probably benign |
|
|
R0532:Cad
|
UTSW |
5 |
31,219,531 (GRCm39) |
splice site |
probably benign |
|
|
R0539:Cad
|
UTSW |
5 |
31,232,801 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Cad
|
UTSW |
5 |
31,216,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0590:Cad
|
UTSW |
5 |
31,219,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Cad
|
UTSW |
5 |
31,235,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0831:Cad
|
UTSW |
5 |
31,224,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Cad
|
UTSW |
5 |
31,216,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Cad
|
UTSW |
5 |
31,226,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Cad
|
UTSW |
5 |
31,233,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1763:Cad
|
UTSW |
5 |
31,218,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Cad
|
UTSW |
5 |
31,215,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Cad
|
UTSW |
5 |
31,219,018 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3113:Cad
|
UTSW |
5 |
31,231,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3762:Cad
|
UTSW |
5 |
31,232,890 (GRCm39) |
splice site |
probably null |
|
|
R3847:Cad
|
UTSW |
5 |
31,218,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Cad
|
UTSW |
5 |
31,231,366 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3943:Cad
|
UTSW |
5 |
31,229,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4213:Cad
|
UTSW |
5 |
31,229,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4458:Cad
|
UTSW |
5 |
31,218,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Cad
|
UTSW |
5 |
31,215,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4629:Cad
|
UTSW |
5 |
31,227,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Cad
|
UTSW |
5 |
31,224,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4811:Cad
|
UTSW |
5 |
31,232,034 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5044:Cad
|
UTSW |
5 |
31,212,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5630:Cad
|
UTSW |
5 |
31,217,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Cad
|
UTSW |
5 |
31,234,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Cad
|
UTSW |
5 |
31,226,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Cad
|
UTSW |
5 |
31,212,327 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6073:Cad
|
UTSW |
5 |
31,219,906 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6240:Cad
|
UTSW |
5 |
31,230,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Cad
|
UTSW |
5 |
31,224,144 (GRCm39) |
missense |
probably null |
|
|
R7145:Cad
|
UTSW |
5 |
31,224,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7303:Cad
|
UTSW |
5 |
31,217,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7352:Cad
|
UTSW |
5 |
31,215,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Cad
|
UTSW |
5 |
31,233,173 (GRCm39) |
missense |
probably benign |
|
|
R7387:Cad
|
UTSW |
5 |
31,219,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Cad
|
UTSW |
5 |
31,231,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7596:Cad
|
UTSW |
5 |
31,226,392 (GRCm39) |
missense |
probably benign |
|
|
R7627:Cad
|
UTSW |
5 |
31,217,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Cad
|
UTSW |
5 |
31,218,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Cad
|
UTSW |
5 |
31,226,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Cad
|
UTSW |
5 |
31,218,271 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8511:Cad
|
UTSW |
5 |
31,233,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8523:Cad
|
UTSW |
5 |
31,215,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8690:Cad
|
UTSW |
5 |
31,232,500 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8697:Cad
|
UTSW |
5 |
31,231,945 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8698:Cad
|
UTSW |
5 |
31,234,819 (GRCm39) |
missense |
probably benign |
|
|
R8699:Cad
|
UTSW |
5 |
31,233,605 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8803:Cad
|
UTSW |
5 |
31,226,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Cad
|
UTSW |
5 |
31,225,009 (GRCm39) |
missense |
probably null |
|
|
R9272:Cad
|
UTSW |
5 |
31,218,576 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9287:Cad
|
UTSW |
5 |
31,230,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9314:Cad
|
UTSW |
5 |
31,234,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Cad
|
UTSW |
5 |
31,228,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9665:Cad
|
UTSW |
5 |
31,229,703 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF001:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF012:Cad
|
UTSW |
5 |
31,217,556 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0021:Cad
|
UTSW |
5 |
31,225,475 (GRCm39) |
missense |
probably null |
1.00 |
|
X0022:Cad
|
UTSW |
5 |
31,229,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cad
|
UTSW |
5 |
31,232,472 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1177:Cad
|
UTSW |
5 |
31,225,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCCTCAAGGTTAAGAG -3'
(R):5'- AGTCCCTCTCATAGGTCCAGTC -3'
Sequencing Primer
(F):5'- TGCTCACCCTAGAGTGAAGC -3'
(R):5'- CCTCTCATAGGTCCAGTCTTATG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation