Incidental Mutation 'R1913:Abcc2'
| ID |
214640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc2
|
| Ensembl Gene |
ENSMUSG00000025194 |
| Gene Name |
ATP-binding cassette, sub-family member 2 |
| Synonyms |
Cmoat, Mrp2, multidrug resistance protein 2 |
| MMRRC Submission |
039931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1913 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43770747-43826771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43795683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 480
(T480S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026208]
|
| AlphaFold |
Q8VI47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026208
AA Change: T480S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: T480S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
transmembrane domain
|
160 |
182 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
319 |
591 |
3.4e-37 |
PFAM |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
AAA
|
661 |
836 |
1.77e-8 |
SMART |
|
low complexity region
|
906 |
933 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
977 |
1249 |
5.4e-48 |
PFAM |
|
AAA
|
1324 |
1509 |
1.33e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146737
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the canalicular surface of the hepatocyte and in biliary transport, and appears to contribute to drug resistance in mammalian cells. Several different mutations in the human gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. Alternative splice variants have been observed for this gene; however, they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,140,463 (GRCm39) |
I1588F |
probably benign |
Het |
| Acnat1 |
A |
G |
4: 49,447,498 (GRCm39) |
I361T |
probably damaging |
Het |
| Adamts10 |
A |
T |
17: 33,768,529 (GRCm39) |
H869L |
probably benign |
Het |
| Agpat5 |
T |
C |
8: 18,929,629 (GRCm39) |
C253R |
probably benign |
Het |
| Agtrap |
T |
A |
4: 148,168,434 (GRCm39) |
H15L |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,985,286 (GRCm39) |
V2190E |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,505,732 (GRCm39) |
E278G |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,319,697 (GRCm39) |
S28P |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,748,786 (GRCm39) |
Y444N |
probably benign |
Het |
| Brdt |
T |
C |
5: 107,496,479 (GRCm39) |
I197T |
probably benign |
Het |
| Ccser1 |
G |
T |
6: 62,356,878 (GRCm39) |
S772I |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,343,100 (GRCm39) |
H657R |
probably benign |
Het |
| Ceacam5 |
A |
T |
7: 17,493,502 (GRCm39) |
K842* |
probably null |
Het |
| Cep120 |
G |
A |
18: 53,856,358 (GRCm39) |
T353I |
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,684,410 (GRCm39) |
N164S |
possibly damaging |
Het |
| Cse1l |
T |
C |
2: 166,764,111 (GRCm39) |
F123L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dcx |
G |
C |
X: 142,706,099 (GRCm39) |
L231V |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,514,221 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,355,756 (GRCm39) |
M2227K |
probably damaging |
Het |
| Dnajc30 |
G |
A |
5: 135,093,186 (GRCm39) |
A28T |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,147,830 (GRCm39) |
T306A |
probably benign |
Het |
| Elapor2 |
T |
G |
5: 9,316,275 (GRCm39) |
L2R |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,652,669 (GRCm39) |
E763* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,202,364 (GRCm39) |
S516G |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,435 (GRCm39) |
Q498R |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,194,814 (GRCm39) |
N1449I |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,952,287 (GRCm39) |
D194G |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,417,324 (GRCm39) |
D713G |
possibly damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,383 (GRCm39) |
Y49F |
possibly damaging |
Het |
| Fpr3 |
A |
G |
17: 18,191,670 (GRCm39) |
I314V |
probably damaging |
Het |
| Gfod1 |
A |
T |
13: 43,456,921 (GRCm39) |
I18N |
probably damaging |
Het |
| Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr89 |
A |
G |
3: 96,782,949 (GRCm39) |
F334L |
possibly damaging |
Het |
| Gucy2d |
G |
T |
7: 98,093,054 (GRCm39) |
V144F |
probably benign |
Het |
| H2-M10.5 |
C |
A |
17: 37,085,660 (GRCm39) |
P273H |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,391,908 (GRCm39) |
K237M |
probably damaging |
Het |
| Hcn2 |
A |
G |
10: 79,566,777 (GRCm39) |
M485V |
probably benign |
Het |
| Helz2 |
G |
T |
2: 180,875,543 (GRCm39) |
S1650R |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,201,058 (GRCm39) |
V433A |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,834,623 (GRCm39) |
Y83F |
probably benign |
Het |
| Kcnk18 |
A |
G |
19: 59,223,490 (GRCm39) |
I212V |
possibly damaging |
Het |
| Kcns2 |
T |
C |
15: 34,839,855 (GRCm39) |
I406T |
probably damaging |
Het |
| Krt42 |
C |
T |
11: 100,158,075 (GRCm39) |
V166M |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,628,336 (GRCm39) |
M1476T |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,546,913 (GRCm39) |
R166G |
probably benign |
Het |
| Mapt |
C |
T |
11: 104,218,901 (GRCm39) |
P354L |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,226,286 (GRCm39) |
I383F |
probably benign |
Het |
| Mpzl1 |
C |
A |
1: 165,429,374 (GRCm39) |
C222F |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,047,829 (GRCm39) |
L780P |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,288,665 (GRCm39) |
|
probably null |
Het |
| Ndufab1 |
T |
C |
7: 121,695,914 (GRCm39) |
D41G |
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,104,011 (GRCm39) |
C546R |
probably damaging |
Het |
| Or2a5 |
T |
A |
6: 42,873,687 (GRCm39) |
F101I |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,892,963 (GRCm39) |
E880G |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,575,056 (GRCm39) |
E639G |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,177,071 (GRCm39) |
T83A |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,628,549 (GRCm39) |
I186N |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,636,980 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,954,978 (GRCm39) |
A595S |
possibly damaging |
Het |
| Ppara |
T |
A |
15: 85,685,300 (GRCm39) |
H416Q |
probably damaging |
Het |
| Prodh |
T |
A |
16: 17,898,891 (GRCm39) |
D188V |
probably damaging |
Het |
| Psmd14 |
A |
T |
2: 61,615,800 (GRCm39) |
K223M |
possibly damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,728,616 (GRCm39) |
M528T |
possibly damaging |
Het |
| Rassf9 |
G |
A |
10: 102,380,800 (GRCm39) |
E59K |
probably benign |
Het |
| Rnf2 |
A |
T |
1: 151,351,936 (GRCm39) |
L140H |
probably damaging |
Het |
| Scai |
A |
G |
2: 38,970,093 (GRCm39) |
F557S |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,747,552 (GRCm39) |
S653P |
possibly damaging |
Het |
| Sec24c |
A |
G |
14: 20,739,179 (GRCm39) |
D534G |
probably benign |
Het |
| Semp2l2a |
T |
A |
8: 13,887,143 (GRCm39) |
Q316L |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,457,838 (GRCm39) |
S71P |
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,395,561 (GRCm39) |
V375A |
probably benign |
Het |
| Serpinb9f |
C |
T |
13: 33,509,829 (GRCm39) |
A7V |
probably damaging |
Het |
| Smco1 |
T |
C |
16: 32,092,700 (GRCm39) |
S124P |
probably damaging |
Het |
| Smim23 |
C |
A |
11: 32,774,441 (GRCm39) |
C26F |
possibly damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,715 (GRCm39) |
M505K |
probably benign |
Het |
| Sprr1b |
C |
A |
3: 92,344,775 (GRCm39) |
V34F |
possibly damaging |
Het |
| Sun1 |
G |
A |
5: 139,221,487 (GRCm39) |
|
probably null |
Het |
| Supt16 |
A |
G |
14: 52,415,592 (GRCm39) |
L381P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,946,020 (GRCm39) |
D364G |
possibly damaging |
Het |
| Tax1bp1 |
G |
T |
6: 52,742,937 (GRCm39) |
V775F |
probably damaging |
Het |
| Tial1 |
T |
A |
7: 128,046,383 (GRCm39) |
I231F |
probably damaging |
Het |
| Tiam1 |
C |
A |
16: 89,595,582 (GRCm39) |
V1300L |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,334,243 (GRCm39) |
T585A |
probably damaging |
Het |
| Tnni3k |
C |
T |
3: 154,684,836 (GRCm39) |
A165T |
probably benign |
Het |
| Tomm40 |
A |
T |
7: 19,444,886 (GRCm39) |
I165N |
probably damaging |
Het |
| Tomt |
T |
C |
7: 101,550,454 (GRCm39) |
E104G |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,596,078 (GRCm39) |
S950P |
possibly damaging |
Het |
| Traf3ip2 |
C |
G |
10: 39,501,936 (GRCm39) |
P28R |
probably benign |
Het |
| Trim24 |
C |
T |
6: 37,934,750 (GRCm39) |
P822S |
probably damaging |
Het |
| Upf3a |
T |
G |
8: 13,842,108 (GRCm39) |
Y175D |
probably damaging |
Het |
| Vars2 |
G |
A |
17: 35,977,814 (GRCm39) |
P69S |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,151,976 (GRCm39) |
Y151C |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,202,654 (GRCm39) |
D141V |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,319,331 (GRCm39) |
Q442* |
probably null |
Het |
| Wdr17 |
T |
A |
8: 55,140,761 (GRCm39) |
D197V |
probably damaging |
Het |
| Wdr70 |
G |
T |
15: 7,913,891 (GRCm39) |
T586N |
possibly damaging |
Het |
| Wfdc18 |
G |
A |
11: 83,600,754 (GRCm39) |
G52R |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,858,540 (GRCm39) |
I857T |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
GAAGAA |
GAAGAACAAGAA |
17: 46,723,450 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
C |
T |
15: 76,796,151 (GRCm39) |
V170I |
probably benign |
Het |
| Zfp871 |
T |
C |
17: 32,994,891 (GRCm39) |
N76D |
possibly damaging |
Het |
| Zpld2 |
A |
G |
4: 133,919,986 (GRCm39) |
|
probably null |
Het |
| Zwilch |
A |
G |
9: 64,068,234 (GRCm39) |
Y194H |
probably damaging |
Het |
|
| Other mutations in Abcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Abcc2
|
APN |
19 |
43,772,641 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01611:Abcc2
|
APN |
19 |
43,815,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Abcc2
|
APN |
19 |
43,772,734 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02008:Abcc2
|
APN |
19 |
43,810,189 (GRCm39) |
splice site |
probably benign |
|
|
IGL02041:Abcc2
|
APN |
19 |
43,772,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Abcc2
|
APN |
19 |
43,786,943 (GRCm39) |
missense |
probably benign |
|
|
IGL02950:Abcc2
|
APN |
19 |
43,814,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03081:Abcc2
|
APN |
19 |
43,770,841 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03397:Abcc2
|
APN |
19 |
43,772,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
loser
|
UTSW |
19 |
43,827,850 (GRCm39) |
utr 3 prime |
probably benign |
|
|
nelson
|
UTSW |
19 |
43,792,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
Sore
|
UTSW |
19 |
43,786,633 (GRCm39) |
missense |
probably benign |
0.22 |
|
BB002:Abcc2
|
UTSW |
19 |
43,795,551 (GRCm39) |
missense |
probably benign |
0.07 |
|
BB012:Abcc2
|
UTSW |
19 |
43,795,551 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4453001:Abcc2
|
UTSW |
19 |
43,792,221 (GRCm39) |
nonsense |
probably null |
|
|
PIT4519001:Abcc2
|
UTSW |
19 |
43,807,836 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0197:Abcc2
|
UTSW |
19 |
43,815,053 (GRCm39) |
nonsense |
probably null |
|
|
R0326:Abcc2
|
UTSW |
19 |
43,814,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0391:Abcc2
|
UTSW |
19 |
43,810,044 (GRCm39) |
splice site |
probably benign |
|
|
R0558:Abcc2
|
UTSW |
19 |
43,789,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0577:Abcc2
|
UTSW |
19 |
43,807,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Abcc2
|
UTSW |
19 |
43,786,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1189:Abcc2
|
UTSW |
19 |
43,807,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Abcc2
|
UTSW |
19 |
43,822,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1395:Abcc2
|
UTSW |
19 |
43,822,379 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1606:Abcc2
|
UTSW |
19 |
43,825,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Abcc2
|
UTSW |
19 |
43,786,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1797:Abcc2
|
UTSW |
19 |
43,822,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1797:Abcc2
|
UTSW |
19 |
43,803,225 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1826:Abcc2
|
UTSW |
19 |
43,810,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1882:Abcc2
|
UTSW |
19 |
43,786,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1986:Abcc2
|
UTSW |
19 |
43,818,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Abcc2
|
UTSW |
19 |
43,795,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Abcc2
|
UTSW |
19 |
43,795,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Abcc2
|
UTSW |
19 |
43,793,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Abcc2
|
UTSW |
19 |
43,806,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Abcc2
|
UTSW |
19 |
43,786,885 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3802:Abcc2
|
UTSW |
19 |
43,810,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4010:Abcc2
|
UTSW |
19 |
43,818,303 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4014:Abcc2
|
UTSW |
19 |
43,811,559 (GRCm39) |
missense |
probably benign |
|
|
R4064:Abcc2
|
UTSW |
19 |
43,793,432 (GRCm39) |
nonsense |
probably null |
|
|
R4296:Abcc2
|
UTSW |
19 |
43,811,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Abcc2
|
UTSW |
19 |
43,811,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Abcc2
|
UTSW |
19 |
43,787,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4580:Abcc2
|
UTSW |
19 |
43,799,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Abcc2
|
UTSW |
19 |
43,792,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4631:Abcc2
|
UTSW |
19 |
43,803,146 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4671:Abcc2
|
UTSW |
19 |
43,789,157 (GRCm39) |
missense |
probably benign |
|
|
R4715:Abcc2
|
UTSW |
19 |
43,805,321 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4726:Abcc2
|
UTSW |
19 |
43,820,553 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4760:Abcc2
|
UTSW |
19 |
43,798,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4801:Abcc2
|
UTSW |
19 |
43,807,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Abcc2
|
UTSW |
19 |
43,807,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Abcc2
|
UTSW |
19 |
43,789,074 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5143:Abcc2
|
UTSW |
19 |
43,810,100 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5206:Abcc2
|
UTSW |
19 |
43,806,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Abcc2
|
UTSW |
19 |
43,818,339 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5478:Abcc2
|
UTSW |
19 |
43,827,904 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5700:Abcc2
|
UTSW |
19 |
43,786,633 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5863:Abcc2
|
UTSW |
19 |
43,786,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Abcc2
|
UTSW |
19 |
43,807,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Abcc2
|
UTSW |
19 |
43,801,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5983:Abcc2
|
UTSW |
19 |
43,807,942 (GRCm39) |
missense |
probably benign |
|
|
R6014:Abcc2
|
UTSW |
19 |
43,815,174 (GRCm39) |
missense |
probably benign |
|
|
R6419:Abcc2
|
UTSW |
19 |
43,825,947 (GRCm39) |
splice site |
probably null |
|
|
R6497:Abcc2
|
UTSW |
19 |
43,793,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Abcc2
|
UTSW |
19 |
43,770,645 (GRCm39) |
splice site |
probably null |
|
|
R6614:Abcc2
|
UTSW |
19 |
43,807,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6649:Abcc2
|
UTSW |
19 |
43,800,941 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6653:Abcc2
|
UTSW |
19 |
43,800,941 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6670:Abcc2
|
UTSW |
19 |
43,827,850 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6964:Abcc2
|
UTSW |
19 |
43,786,515 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6989:Abcc2
|
UTSW |
19 |
43,820,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Abcc2
|
UTSW |
19 |
43,786,617 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7026:Abcc2
|
UTSW |
19 |
43,818,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7026:Abcc2
|
UTSW |
19 |
43,805,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Abcc2
|
UTSW |
19 |
43,825,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Abcc2
|
UTSW |
19 |
43,816,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7293:Abcc2
|
UTSW |
19 |
43,795,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Abcc2
|
UTSW |
19 |
43,797,126 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7450:Abcc2
|
UTSW |
19 |
43,810,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Abcc2
|
UTSW |
19 |
43,815,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7787:Abcc2
|
UTSW |
19 |
43,772,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Abcc2
|
UTSW |
19 |
43,818,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7911:Abcc2
|
UTSW |
19 |
43,792,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7919:Abcc2
|
UTSW |
19 |
43,805,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Abcc2
|
UTSW |
19 |
43,795,551 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7993:Abcc2
|
UTSW |
19 |
43,803,231 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8097:Abcc2
|
UTSW |
19 |
43,805,394 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8177:Abcc2
|
UTSW |
19 |
43,795,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Abcc2
|
UTSW |
19 |
43,793,410 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8693:Abcc2
|
UTSW |
19 |
43,810,474 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8722:Abcc2
|
UTSW |
19 |
43,825,052 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8734:Abcc2
|
UTSW |
19 |
43,770,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Abcc2
|
UTSW |
19 |
43,787,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8774-TAIL:Abcc2
|
UTSW |
19 |
43,787,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8798:Abcc2
|
UTSW |
19 |
43,797,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8889:Abcc2
|
UTSW |
19 |
43,795,571 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8892:Abcc2
|
UTSW |
19 |
43,795,571 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8936:Abcc2
|
UTSW |
19 |
43,797,101 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9031:Abcc2
|
UTSW |
19 |
43,810,466 (GRCm39) |
missense |
probably benign |
|
|
R9116:Abcc2
|
UTSW |
19 |
43,793,391 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9201:Abcc2
|
UTSW |
19 |
43,786,880 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9246:Abcc2
|
UTSW |
19 |
43,786,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9345:Abcc2
|
UTSW |
19 |
43,807,869 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9487:Abcc2
|
UTSW |
19 |
43,806,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Abcc2
|
UTSW |
19 |
43,820,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Abcc2
|
UTSW |
19 |
43,811,539 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Abcc2
|
UTSW |
19 |
43,792,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Abcc2
|
UTSW |
19 |
43,792,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGAGGCAGTACACGATTGG -3'
(R):5'- GAGTGACCAGTTAGAGGCTG -3'
Sequencing Primer
(F):5'- GAACTTGATGTCTGTAGATTCCCAG -3'
(R):5'- TGACCAGTTAGAGGCTGAAAGG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation