Incidental Mutation 'R9301:Abca4'
ID 704930
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9301 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 121838092-121973772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121881128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 514 (N514K)
Ref Sequence ENSEMBL: ENSMUSP00000013995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013995]
AlphaFold O35600
Predicted Effect probably benign
Transcript: ENSMUST00000013995
AA Change: N514K

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: N514K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A T 12: 112,602,882 (GRCm39) R358W probably damaging Het
Anxa8 T A 14: 33,819,932 (GRCm39) I307N probably damaging Het
Atad5 T A 11: 79,986,845 (GRCm39) I644N probably damaging Het
Atp5f1a G T 18: 77,868,938 (GRCm39) L437F probably damaging Het
Babam1 A G 8: 71,855,684 (GRCm39) K259R possibly damaging Het
BC048562 T G 9: 108,323,054 (GRCm39) F130V probably damaging Het
Btf3l4b T A 13: 96,217,621 (GRCm39) K73* probably null Het
Camsap2 T A 1: 136,202,640 (GRCm39) probably null Het
Ccne2 A G 4: 11,192,881 (GRCm39) I27M probably benign Het
Cd302 A G 2: 60,082,793 (GRCm39) V177A possibly damaging Het
Cfap46 T C 7: 139,222,461 (GRCm39) K1172R Het
Cic T C 7: 24,991,117 (GRCm39) W2141R probably damaging Het
Cpeb3 A G 19: 37,151,473 (GRCm39) V301A possibly damaging Het
Cpsf3 A G 12: 21,350,112 (GRCm39) K277R possibly damaging Het
Cstl1 A G 2: 148,592,926 (GRCm39) H27R possibly damaging Het
Dapk1 T A 13: 60,866,125 (GRCm39) I188K possibly damaging Het
Dock6 T C 9: 21,729,111 (GRCm39) T1301A probably benign Het
Eml5 A T 12: 98,848,292 (GRCm39) C133* probably null Het
Ermap T A 4: 119,042,744 (GRCm39) I260F probably damaging Het
Fbxw22 T G 9: 109,215,653 (GRCm39) E198D possibly damaging Het
Flt4 T C 11: 49,516,241 (GRCm39) Y115H possibly damaging Het
Fmo9 A C 1: 166,494,794 (GRCm39) I369S probably damaging Het
Frmd4a T A 2: 4,157,904 (GRCm39) S6T probably benign Het
Golga5 A T 12: 102,443,057 (GRCm39) I330L probably benign Het
Helq C A 5: 100,927,158 (GRCm39) V643F probably damaging Het
Ino80d A T 1: 63,104,969 (GRCm39) L369H probably damaging Het
Kank1 A T 19: 25,388,798 (GRCm39) M824L probably benign Het
Lilrb4b T C 10: 51,356,801 (GRCm39) probably benign Het
Ltbp4 T A 7: 27,021,578 (GRCm39) D1003V probably damaging Het
Mapk8ip2 T C 15: 89,341,886 (GRCm39) S366P probably damaging Het
Mdga1 T C 17: 30,069,512 (GRCm39) H178R probably benign Het
Mlh3 A G 12: 85,292,613 (GRCm39) V1266A possibly damaging Het
Nrp1 A G 8: 129,089,859 (GRCm39) E78G probably damaging Het
Or1l4 A T 2: 37,091,255 (GRCm39) M1L probably benign Het
Or4z4 A T 19: 12,076,826 (GRCm39) M59K probably damaging Het
Or5d16 A G 2: 87,773,297 (GRCm39) V225A probably benign Het
Or8k33 A G 2: 86,383,818 (GRCm39) S217P possibly damaging Het
Ovch2 A G 7: 107,395,815 (GRCm39) S68P probably damaging Het
Pappa2 T A 1: 158,672,614 (GRCm39) I1110F probably damaging Het
Pcyox1 A C 6: 86,369,241 (GRCm39) L195R possibly damaging Het
Pde11a A G 2: 75,848,217 (GRCm39) L870P probably damaging Het
Pgpep1 G A 8: 71,103,418 (GRCm39) T152M probably damaging Het
Pik3c2a A T 7: 115,945,413 (GRCm39) D1464E probably damaging Het
Plcb1 A G 2: 135,167,610 (GRCm39) K468R possibly damaging Het
Postn C T 3: 54,292,659 (GRCm39) T742I probably benign Het
Ppm1j T A 3: 104,691,057 (GRCm39) Y274N probably damaging Het
Ppp2cb T C 8: 34,090,038 (GRCm39) C32R possibly damaging Het
Prmt9 T A 8: 78,282,374 (GRCm39) Y90* probably null Het
Ptk2 T C 15: 73,146,346 (GRCm39) Y441C probably damaging Het
Rabggta T A 14: 55,957,083 (GRCm39) I266L probably benign Het
Rft1 C T 14: 30,398,812 (GRCm39) R261W probably damaging Het
Rsrc1 C T 3: 67,197,680 (GRCm39) A195V probably damaging Het
Rtkn2 T G 10: 67,871,677 (GRCm39) L355R possibly damaging Het
Runx1t1 A T 4: 13,875,477 (GRCm39) D427V possibly damaging Het
Slc15a4 T G 5: 127,673,812 (GRCm39) H534P probably benign Het
Slc16a7 T C 10: 125,066,880 (GRCm39) N253S probably damaging Het
Slc29a1 A G 17: 45,897,063 (GRCm39) S408P probably damaging Het
Slc52a2 G A 15: 76,424,406 (GRCm39) A215T probably damaging Het
Smc1b T A 15: 85,011,995 (GRCm39) I126L probably damaging Het
Sycp2 A T 2: 178,023,650 (GRCm39) N455K probably benign Het
Tbck T C 3: 132,543,738 (GRCm39) V863A probably benign Het
Tfap2c A G 2: 172,395,347 (GRCm39) M263V probably benign Het
Tmem45a A G 16: 56,627,134 (GRCm39) V245A probably damaging Het
Top2a C T 11: 98,897,790 (GRCm39) G759D probably damaging Het
Traf5 A G 1: 191,729,489 (GRCm39) S218P Het
Tsfm T C 10: 126,866,502 (GRCm39) R20G probably benign Het
Ugt2a2 G T 5: 87,608,382 (GRCm39) Q486K probably damaging Het
Usp34 T A 11: 23,422,951 (GRCm39) D3108E Het
Wnt11 A G 7: 98,495,796 (GRCm39) Y100C probably damaging Het
Zbtb49 A G 5: 38,370,931 (GRCm39) C317R 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
R2165:Abca4 UTSW 3 121,906,048 (GRCm39) missense possibly damaging 0.90
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
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'- TAAGGCCAAAGAGCCTGTGG -3'
(R):5'- AAGATGCTGTCAGATGGCC -3'

Sequencing Primer
(F):5'- GCCAAAGAGCCTGTGGAATTC -3'
(R):5'- AGATGGCCGTGGACCCTTATG -3'
Posted On 2022-03-25