Incidental Mutation 'R6319:Abcg2'
| ID |
509333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg2
|
| Ensembl Gene |
ENSMUSG00000029802 |
| Gene Name |
ATP binding cassette subfamily G member 2 (Junior blood group) |
| Synonyms |
4930430M16Rik, Bcrp |
| MMRRC Submission |
044474-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
58561476-58669436 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58651723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 372
(S372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031822]
[ENSMUST00000114294]
[ENSMUST00000143752]
[ENSMUST00000203146]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031822
AA Change: S372P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: S372P
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
71 |
269 |
9.08e-6 |
SMART |
|
Pfam:ABC2_membrane
|
375 |
586 |
5.4e-42 |
PFAM |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114294
AA Change: S372P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: S372P
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
71 |
269 |
9.08e-6 |
SMART |
|
Pfam:ABC2_membrane
|
375 |
586 |
1.2e-40 |
PFAM |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143752
AA Change: S372P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802
AA Change: S372P
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
71 |
269 |
9.08e-6 |
SMART |
|
Pfam:ABC2_membrane
|
375 |
573 |
7.2e-30 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145685
AA Change: S57P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203146
|
| SMART Domains |
Protein: ENSMUSP00000145435
Gene: ENSMUSG00000029802
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jj7a_
|
33 |
129 |
7e-8 |
SMART |
|
Blast:AAA
|
71 |
125 |
3e-32 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is included in 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 White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
| Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
| Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
| Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
| Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
| Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
| Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
| Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
| Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
possibly damaging |
Het |
|
| Other mutations in Abcg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01489:Abcg2
|
APN |
6 |
58,662,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01654:Abcg2
|
APN |
6 |
58,660,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02646:Abcg2
|
APN |
6 |
58,662,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03342:Abcg2
|
APN |
6 |
58,642,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Abcg2
|
UTSW |
6 |
58,651,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0092:Abcg2
|
UTSW |
6 |
58,662,762 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0313:Abcg2
|
UTSW |
6 |
58,649,082 (GRCm39) |
missense |
probably benign |
|
|
R0742:Abcg2
|
UTSW |
6 |
58,655,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1165:Abcg2
|
UTSW |
6 |
58,655,285 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1302:Abcg2
|
UTSW |
6 |
58,662,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Abcg2
|
UTSW |
6 |
58,655,322 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1523:Abcg2
|
UTSW |
6 |
58,662,679 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2056:Abcg2
|
UTSW |
6 |
58,667,525 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2057:Abcg2
|
UTSW |
6 |
58,667,525 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2153:Abcg2
|
UTSW |
6 |
58,661,307 (GRCm39) |
splice site |
probably null |
|
|
R5636:Abcg2
|
UTSW |
6 |
58,649,041 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5723:Abcg2
|
UTSW |
6 |
58,655,336 (GRCm39) |
nonsense |
probably null |
|
|
R5972:Abcg2
|
UTSW |
6 |
58,649,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6896:Abcg2
|
UTSW |
6 |
58,660,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Abcg2
|
UTSW |
6 |
58,661,325 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7387:Abcg2
|
UTSW |
6 |
58,666,609 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8208:Abcg2
|
UTSW |
6 |
58,642,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8414:Abcg2
|
UTSW |
6 |
58,646,221 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8552:Abcg2
|
UTSW |
6 |
58,646,210 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8919:Abcg2
|
UTSW |
6 |
58,661,326 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9789:Abcg2
|
UTSW |
6 |
58,641,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Abcg2
|
UTSW |
6 |
58,655,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGACTGAAGAGCCTTCC -3'
(R):5'- CCATGTCTGGTTATATGCCAAGTC -3'
Sequencing Primer
(F):5'- CTGAAGAGCCTTCCAAGGG -3'
(R):5'- GGCTGTATAGAGAAACCCTGTCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation