Incidental Mutation 'R1531:Cad'
| ID |
166187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cad
|
| Ensembl Gene |
ENSMUSG00000013629 |
| Gene Name |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
| Synonyms |
2410008J01Rik |
| MMRRC Submission |
039570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1531 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31212124-31235823 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31233563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1874
(M1874K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013773]
[ENSMUST00000200953]
[ENSMUST00000201182]
[ENSMUST00000202795]
[ENSMUST00000202973]
|
| AlphaFold |
B2RQC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013773
AA Change: M1937K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629
AA Change: M1937K
| 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 |
noncoding transcript
Transcript: ENSMUST00000200917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200953
AA Change: M1874K
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629
AA Change: M1874K
| 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 |
probably benign
Transcript: ENSMUST00000201182
AA Change: M1937K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629
AA Change: M1937K
| 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 |
noncoding transcript
Transcript: ENSMUST00000201256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202795
AA Change: M1937K
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629
AA Change: M1937K
| 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: ENSMUST00000202827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202973
|
| SMART Domains |
Protein: ENSMUSP00000144679
Gene: ENSMUSG00000013629
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkra1
|
1 |
84 |
4e-28 |
SMART |
|
PDB:4C6N|A
|
1 |
119 |
4e-58 |
PDB |
|
low complexity region
|
156 |
170 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
| Validation Efficiency |
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
A |
13: 59,648,448 (GRCm39) |
|
probably null |
Het |
| Aldh3b2 |
T |
G |
19: 4,027,543 (GRCm39) |
F28C |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,890,383 (GRCm39) |
N540S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,047,880 (GRCm39) |
I953T |
possibly damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,423 (GRCm39) |
T816A |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,122,779 (GRCm39) |
F1053L |
probably benign |
Het |
| Atxn1l |
A |
C |
8: 110,458,691 (GRCm39) |
F524V |
probably damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,154,015 (GRCm39) |
V1096I |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,408,551 (GRCm39) |
D358G |
probably benign |
Het |
| Cd96 |
T |
C |
16: 45,938,169 (GRCm39) |
T99A |
probably benign |
Het |
| Cdc42ep3 |
A |
T |
17: 79,642,473 (GRCm39) |
M149K |
probably benign |
Het |
| Cgas |
A |
G |
9: 78,349,763 (GRCm39) |
Y200H |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,606,353 (GRCm39) |
E613G |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,902,381 (GRCm39) |
I2286N |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,655,654 (GRCm39) |
E459G |
possibly damaging |
Het |
| Csrp2 |
A |
T |
10: 110,771,066 (GRCm39) |
Y57F |
probably benign |
Het |
| Ctdspl |
C |
T |
9: 118,869,650 (GRCm39) |
P244L |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,313,412 (GRCm39) |
R303G |
probably damaging |
Het |
| Cyp4a10 |
C |
A |
4: 115,375,632 (GRCm39) |
Y38* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,880,919 (GRCm39) |
I783N |
probably damaging |
Het |
| Efcc1 |
G |
A |
6: 87,708,148 (GRCm39) |
E92K |
probably benign |
Het |
| Eif2ak4 |
T |
A |
2: 118,273,691 (GRCm39) |
L872H |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,764,461 (GRCm39) |
S603T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,930,179 (GRCm39) |
L300H |
probably damaging |
Het |
| Esp3 |
A |
G |
17: 40,946,827 (GRCm39) |
K50R |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,379,375 (GRCm39) |
F136L |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,707,011 (GRCm39) |
D497E |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,761 (GRCm39) |
S2414P |
probably damaging |
Het |
| Foxj3 |
C |
T |
4: 119,477,398 (GRCm39) |
P369S |
unknown |
Het |
| Gkn2 |
G |
T |
6: 87,352,921 (GRCm39) |
|
probably null |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21905 |
A |
T |
5: 68,103,724 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
T |
A |
12: 24,632,962 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
G |
13: 55,599,967 (GRCm39) |
Y221C |
probably damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,024,720 (GRCm39) |
K389* |
probably null |
Het |
| Hk1 |
G |
A |
10: 62,120,563 (GRCm39) |
R545C |
probably damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,532,659 (GRCm39) |
I339N |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,272 (GRCm39) |
R103G |
probably damaging |
Het |
| Itgad |
A |
C |
7: 127,777,542 (GRCm39) |
I141L |
probably benign |
Het |
| Jmjd6 |
T |
A |
11: 116,733,266 (GRCm39) |
Y137F |
probably benign |
Het |
| Kcna1 |
A |
G |
6: 126,619,030 (GRCm39) |
V430A |
probably benign |
Het |
| Kel |
A |
G |
6: 41,665,560 (GRCm39) |
V520A |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,501,084 (GRCm39) |
V182I |
probably benign |
Het |
| Ldhb |
C |
A |
6: 142,447,121 (GRCm39) |
M64I |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,753,077 (GRCm39) |
S190P |
possibly damaging |
Het |
| Mboat2 |
T |
C |
12: 25,009,029 (GRCm39) |
V445A |
probably benign |
Het |
| Mlycd |
G |
A |
8: 120,128,258 (GRCm39) |
W188* |
probably null |
Het |
| Mpp3 |
C |
T |
11: 101,899,475 (GRCm39) |
E349K |
probably benign |
Het |
| Mtres1 |
A |
G |
10: 43,401,316 (GRCm39) |
V211A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,366 (GRCm39) |
M780V |
probably benign |
Het |
| Myh6 |
G |
A |
14: 55,193,963 (GRCm39) |
R809C |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,560,046 (GRCm39) |
V161M |
possibly damaging |
Het |
| Nrp1 |
G |
A |
8: 129,152,450 (GRCm39) |
V220I |
probably null |
Het |
| Nup210 |
A |
T |
6: 91,011,823 (GRCm39) |
N455K |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,935,243 (GRCm39) |
Y94* |
probably null |
Het |
| Or51f1d |
C |
A |
7: 102,700,795 (GRCm39) |
Q97K |
probably benign |
Het |
| Pbld2 |
G |
T |
10: 62,889,732 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
G |
5: 14,571,917 (GRCm39) |
P434R |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,349,800 (GRCm39) |
K37E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,589,970 (GRCm39) |
I2611N |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,677,954 (GRCm39) |
D2019G |
unknown |
Het |
| Rab27a |
A |
G |
9: 73,002,685 (GRCm39) |
T205A |
probably benign |
Het |
| Rcan3 |
A |
G |
4: 135,152,595 (GRCm39) |
L42P |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,103,474 (GRCm39) |
|
probably null |
Het |
| Sema6a |
T |
C |
18: 47,382,066 (GRCm39) |
H827R |
probably damaging |
Het |
| Sertad4 |
A |
G |
1: 192,533,258 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
A |
15: 99,605,264 (GRCm39) |
C282S |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,377,866 (GRCm39) |
T769A |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,297,875 (GRCm39) |
K1141* |
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,911,315 (GRCm39) |
E110G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,722,351 (GRCm39) |
D333E |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,436,955 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tmem215 |
T |
A |
4: 40,473,965 (GRCm39) |
V14E |
probably damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,685 (GRCm39) |
L82P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,039 (GRCm39) |
T97A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,565,397 (GRCm39) |
R965* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,148,352 (GRCm39) |
F354S |
probably benign |
Het |
| Ttyh2 |
T |
C |
11: 114,577,278 (GRCm39) |
L63P |
probably damaging |
Het |
| Ulk4 |
G |
C |
9: 120,873,841 (GRCm39) |
P1197A |
probably damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,536 (GRCm39) |
M206V |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,285,226 (GRCm39) |
Y402* |
probably null |
Het |
| Zbtb41 |
A |
G |
1: 139,350,931 (GRCm39) |
I15V |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,284,170 (GRCm39) |
I982V |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,123 (GRCm39) |
N106K |
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 |
|
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 |
|
R2165:Cad
|
UTSW |
5 |
31,219,564 (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'- CGCACTGATGCATATTTACCTGGGG -3'
(R):5'- ACTACCGTGACTCAGAGCTAAAGCC -3'
Sequencing Primer
(F):5'- GCCTCTGTAGTCTGATCCAAGTAG -3'
(R):5'- TTGCAAATGTCAACGGCTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation