Incidental Mutation 'R2165:Abca4'
ID 235410
Institutional Source Beutler Lab
Gene Symbol Abca4
Ensembl Gene ENSMUSG00000028125
Gene Name ATP-binding cassette, sub-family A member 4
Synonyms Rim protein, RmP, D430003I15Rik, Abc10
MMRRC Submission 040168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2165 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 121838092-121973772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121906048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 806 (T806A)
Ref Sequence ENSEMBL: ENSMUSP00000013995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013995]
AlphaFold O35600
Predicted Effect possibly damaging
Transcript: ENSMUST00000013995
AA Change: T806A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: T806A

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 608 856 5e-17 PFAM
AAA 955 1145 9.42e-13 SMART
transmembrane domain 1372 1394 N/A INTRINSIC
Pfam:ABC2_membrane_3 1522 1894 2.9e-44 PFAM
AAA 1963 2147 7.09e-8 SMART
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (71/72)
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
Cad A G 5: 31,219,564 (GRCm39) N621S probably damaging 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 Abca4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Abca4 APN 3 121,856,353 (GRCm39) splice site probably null
IGL00229:Abca4 APN 3 121,964,603 (GRCm39) missense probably damaging 1.00
IGL00858:Abca4 APN 3 121,967,537 (GRCm39) missense probably damaging 0.97
IGL01316:Abca4 APN 3 121,935,404 (GRCm39) missense probably damaging 0.99
IGL01357:Abca4 APN 3 121,897,232 (GRCm39) missense probably damaging 1.00
IGL01784:Abca4 APN 3 121,932,154 (GRCm39) missense probably benign 0.22
IGL01903:Abca4 APN 3 121,949,050 (GRCm39) splice site probably benign
IGL02008:Abca4 APN 3 121,969,750 (GRCm39) missense probably benign 0.00
IGL02113:Abca4 APN 3 121,904,127 (GRCm39) missense possibly damaging 0.90
IGL02142:Abca4 APN 3 121,963,575 (GRCm39) missense probably benign 0.01
IGL02200:Abca4 APN 3 121,862,663 (GRCm39) missense probably benign 0.00
IGL02203:Abca4 APN 3 121,973,457 (GRCm39) missense probably benign
IGL02306:Abca4 APN 3 121,952,044 (GRCm39) missense probably damaging 1.00
IGL02307:Abca4 APN 3 121,935,395 (GRCm39) missense probably damaging 1.00
IGL02673:Abca4 APN 3 121,897,150 (GRCm39) missense probably damaging 1.00
IGL02864:Abca4 APN 3 121,937,080 (GRCm39) missense probably damaging 1.00
IGL02886:Abca4 APN 3 121,921,863 (GRCm39) missense probably damaging 0.96
IGL02934:Abca4 APN 3 121,956,008 (GRCm39) nonsense probably null
IGL02992:Abca4 APN 3 121,921,935 (GRCm39) missense probably damaging 0.96
IGL03083:Abca4 APN 3 121,932,261 (GRCm39) critical splice donor site probably null
IGL03258:Abca4 APN 3 121,931,210 (GRCm39) splice site probably benign
IGL03279:Abca4 APN 3 121,935,381 (GRCm39) missense probably benign 0.12
3-1:Abca4 UTSW 3 121,874,574 (GRCm39) missense probably benign 0.01
B6819:Abca4 UTSW 3 121,897,273 (GRCm39) splice site probably benign
K7894:Abca4 UTSW 3 121,941,517 (GRCm39) frame shift probably null
PIT4151001:Abca4 UTSW 3 121,930,670 (GRCm39) missense probably damaging 0.99
PIT4453001:Abca4 UTSW 3 121,898,965 (GRCm39) missense probably damaging 0.99
R0001:Abca4 UTSW 3 121,874,660 (GRCm39) splice site probably benign
R0091:Abca4 UTSW 3 121,932,179 (GRCm39) missense possibly damaging 0.94
R0138:Abca4 UTSW 3 121,899,098 (GRCm39) missense probably damaging 1.00
R0344:Abca4 UTSW 3 121,877,613 (GRCm39) missense probably damaging 1.00
R0347:Abca4 UTSW 3 121,913,748 (GRCm39) missense probably benign 0.00
R0508:Abca4 UTSW 3 121,917,200 (GRCm39) splice site probably benign
R0607:Abca4 UTSW 3 121,950,081 (GRCm39) missense probably damaging 1.00
R0835:Abca4 UTSW 3 121,919,862 (GRCm39) missense probably damaging 1.00
R0839:Abca4 UTSW 3 121,920,527 (GRCm39) missense probably damaging 0.99
R1138:Abca4 UTSW 3 121,967,497 (GRCm39) missense probably benign 0.13
R1448:Abca4 UTSW 3 121,956,577 (GRCm39) splice site probably null
R1453:Abca4 UTSW 3 121,862,763 (GRCm39) missense probably benign 0.04
R1533:Abca4 UTSW 3 121,928,807 (GRCm39) missense probably benign 0.07
R1645:Abca4 UTSW 3 121,948,926 (GRCm39) missense probably benign 0.00
R1763:Abca4 UTSW 3 121,957,479 (GRCm39) missense probably damaging 1.00
R1763:Abca4 UTSW 3 121,904,330 (GRCm39) missense probably benign 0.09
R1838:Abca4 UTSW 3 121,921,954 (GRCm39) missense probably benign
R1867:Abca4 UTSW 3 121,899,010 (GRCm39) missense probably damaging 1.00
R1907:Abca4 UTSW 3 121,862,661 (GRCm39) missense probably damaging 0.99
R1935:Abca4 UTSW 3 121,846,572 (GRCm39) missense probably benign 0.00
R1936:Abca4 UTSW 3 121,846,572 (GRCm39) missense probably benign 0.00
R2391:Abca4 UTSW 3 121,952,071 (GRCm39) missense probably benign 0.00
R2403:Abca4 UTSW 3 121,964,592 (GRCm39) missense probably damaging 1.00
R3788:Abca4 UTSW 3 121,846,561 (GRCm39) missense possibly damaging 0.50
R3814:Abca4 UTSW 3 121,964,570 (GRCm39) splice site probably benign
R4554:Abca4 UTSW 3 121,949,992 (GRCm39) missense possibly damaging 0.91
R4649:Abca4 UTSW 3 121,963,542 (GRCm39) missense probably damaging 1.00
R4653:Abca4 UTSW 3 121,932,230 (GRCm39) nonsense probably null
R4655:Abca4 UTSW 3 121,941,147 (GRCm39) missense possibly damaging 0.93
R4668:Abca4 UTSW 3 121,948,948 (GRCm39) missense possibly damaging 0.90
R4705:Abca4 UTSW 3 121,899,019 (GRCm39) missense probably damaging 0.98
R4788:Abca4 UTSW 3 121,960,361 (GRCm39) missense probably damaging 1.00
R4795:Abca4 UTSW 3 121,969,772 (GRCm39) missense probably damaging 0.99
R4999:Abca4 UTSW 3 121,899,019 (GRCm39) missense probably damaging 1.00
R5301:Abca4 UTSW 3 121,896,502 (GRCm39) missense probably damaging 0.96
R5372:Abca4 UTSW 3 121,848,988 (GRCm39) missense probably damaging 0.96
R5395:Abca4 UTSW 3 121,874,590 (GRCm39) missense probably benign 0.00
R5539:Abca4 UTSW 3 121,963,557 (GRCm39) missense probably damaging 1.00
R5583:Abca4 UTSW 3 121,942,550 (GRCm39) missense probably damaging 0.99
R5706:Abca4 UTSW 3 121,847,910 (GRCm39) missense probably benign 0.10
R5719:Abca4 UTSW 3 121,928,915 (GRCm39) critical splice donor site probably null
R5731:Abca4 UTSW 3 121,926,242 (GRCm39) missense probably damaging 1.00
R5802:Abca4 UTSW 3 121,847,881 (GRCm39) missense probably damaging 1.00
R5819:Abca4 UTSW 3 121,930,630 (GRCm39) missense probably damaging 0.97
R5853:Abca4 UTSW 3 121,897,180 (GRCm39) missense probably benign
R6053:Abca4 UTSW 3 121,964,666 (GRCm39) missense probably damaging 0.99
R6135:Abca4 UTSW 3 121,932,096 (GRCm39) missense possibly damaging 0.69
R6185:Abca4 UTSW 3 121,919,789 (GRCm39) missense probably damaging 0.97
R6227:Abca4 UTSW 3 121,930,743 (GRCm39) nonsense probably null
R6293:Abca4 UTSW 3 121,935,395 (GRCm39) missense probably damaging 1.00
R6297:Abca4 UTSW 3 121,926,179 (GRCm39) missense probably benign 0.24
R6367:Abca4 UTSW 3 121,897,229 (GRCm39) missense probably damaging 1.00
R6376:Abca4 UTSW 3 121,917,309 (GRCm39) missense possibly damaging 0.95
R6405:Abca4 UTSW 3 121,967,311 (GRCm39) splice site probably null
R6525:Abca4 UTSW 3 121,931,308 (GRCm39) missense probably benign 0.00
R6602:Abca4 UTSW 3 121,932,150 (GRCm39) missense probably benign 0.00
R6681:Abca4 UTSW 3 121,915,447 (GRCm39) missense probably damaging 1.00
R6747:Abca4 UTSW 3 121,919,962 (GRCm39) splice site probably null
R6852:Abca4 UTSW 3 121,928,844 (GRCm39) missense probably damaging 0.99
R7049:Abca4 UTSW 3 121,941,497 (GRCm39) missense probably benign 0.00
R7072:Abca4 UTSW 3 121,967,592 (GRCm39) missense probably damaging 1.00
R7092:Abca4 UTSW 3 121,932,218 (GRCm39) missense probably damaging 1.00
R7110:Abca4 UTSW 3 121,926,292 (GRCm39) missense probably damaging 1.00
R7138:Abca4 UTSW 3 121,899,113 (GRCm39) nonsense probably null
R7172:Abca4 UTSW 3 121,897,189 (GRCm39) nonsense probably null
R7263:Abca4 UTSW 3 121,847,843 (GRCm39) missense probably damaging 0.99
R7414:Abca4 UTSW 3 121,896,387 (GRCm39) missense probably benign 0.28
R7537:Abca4 UTSW 3 121,967,637 (GRCm39) missense possibly damaging 0.68
R7577:Abca4 UTSW 3 121,967,663 (GRCm39) missense probably damaging 1.00
R7665:Abca4 UTSW 3 121,838,139 (GRCm39) start gained probably benign
R7758:Abca4 UTSW 3 121,921,816 (GRCm39) missense probably damaging 1.00
R7935:Abca4 UTSW 3 121,904,186 (GRCm39) missense possibly damaging 0.85
R8237:Abca4 UTSW 3 121,955,952 (GRCm39) missense probably benign 0.00
R8255:Abca4 UTSW 3 121,948,926 (GRCm39) missense probably benign 0.00
R8294:Abca4 UTSW 3 121,897,217 (GRCm39) missense possibly damaging 0.75
R8504:Abca4 UTSW 3 121,922,983 (GRCm39) missense probably benign 0.01
R8536:Abca4 UTSW 3 121,973,394 (GRCm39) missense probably benign 0.01
R8714:Abca4 UTSW 3 121,942,528 (GRCm39) missense probably benign 0.19
R8771:Abca4 UTSW 3 121,880,320 (GRCm39) missense probably damaging 0.97
R8835:Abca4 UTSW 3 121,896,433 (GRCm39) missense probably benign 0.00
R8845:Abca4 UTSW 3 121,930,651 (GRCm39) missense probably damaging 1.00
R8856:Abca4 UTSW 3 121,906,096 (GRCm39) missense probably benign
R8933:Abca4 UTSW 3 121,921,786 (GRCm39) missense probably damaging 1.00
R9052:Abca4 UTSW 3 121,940,908 (GRCm39) missense possibly damaging 0.68
R9095:Abca4 UTSW 3 121,967,556 (GRCm39) missense possibly damaging 0.52
R9221:Abca4 UTSW 3 121,921,828 (GRCm39) missense probably damaging 1.00
R9262:Abca4 UTSW 3 121,964,639 (GRCm39) missense probably damaging 1.00
R9301:Abca4 UTSW 3 121,881,128 (GRCm39) missense probably benign 0.24
R9367:Abca4 UTSW 3 121,838,197 (GRCm39) start codon destroyed probably null 0.99
R9408:Abca4 UTSW 3 121,931,274 (GRCm39) missense probably benign
R9425:Abca4 UTSW 3 121,926,344 (GRCm39) missense probably damaging 1.00
R9464:Abca4 UTSW 3 121,913,714 (GRCm39) missense probably benign 0.08
R9483:Abca4 UTSW 3 121,879,275 (GRCm39) missense
R9751:Abca4 UTSW 3 121,881,126 (GRCm39) missense probably benign 0.00
Z1176:Abca4 UTSW 3 121,950,092 (GRCm39) missense probably damaging 1.00
Z1176:Abca4 UTSW 3 121,897,137 (GRCm39) missense probably damaging 1.00
Z1177:Abca4 UTSW 3 121,967,563 (GRCm39) missense probably benign 0.21
Z1177:Abca4 UTSW 3 121,941,435 (GRCm39) missense possibly damaging 0.79
Z1189:Abca4 UTSW 3 121,877,642 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CAGGAGAAGGGCACTTTACG -3'
(R):5'- TCTAATTCTCTTGACCGTGGG -3'

Sequencing Primer
(F):5'- TTACGCCCTCCCTGAGTGG -3'
(R):5'- GGAGATACAGCAGCCTGACTTTTC -3'
Posted On 2014-10-01