Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Abcc4'

571747

Institutional Source

Beutler Lab

Gene Symbol

Abcc4

Ensembl Gene

ENSMUSG00000032849

Gene Name

ATP-binding cassette, sub-family C member 4

Synonyms

MOAT-B, MRP4, D630049P08Rik

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118720104-118943631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118865066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 320 (N320S)

Ref Sequence

ENSEMBL: ENSMUSP00000042186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]

AlphaFold

E9Q236

Predicted Effect

probably damaging
Transcript: ENSMUST00000036554
AA Change: N320S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: N320S

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	92	365	4.5e-37	PFAM
AAA	437	610	5.71e-12	SMART
Pfam:ABC_membrane	714	993	4.2e-47	PFAM
AAA	1067	1251	2.02e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166646
AA Change: N245S

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: N245S

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	98	290	4.1e-22	PFAM
AAA	362	535	5.71e-12	SMART
Pfam:ABC_membrane	638	922	4.6e-39	PFAM
AAA	992	1176	2.02e-12	SMART

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]

Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,300,198 (GRCm39)	D700E	probably damaging	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,510,692 (GRCm39)	S639*	probably null	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Golga2	C	T	2: 32,193,013 (GRCm39)	Q444*	probably null	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Tnpo3	A	G	6: 29,556,995 (GRCm39)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		probably benign	Het

Other mutations in Abcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Abcc4	APN	14	118,766,409 (GRCm39)	missense	probably benign	0.03
IGL01152:Abcc4	APN	14	118,836,797 (GRCm39)	missense	probably damaging	1.00
IGL01511:Abcc4	APN	14	118,836,753 (GRCm39)	missense	probably benign	0.03
IGL01604:Abcc4	APN	14	118,765,406 (GRCm39)	missense	possibly damaging	0.94
IGL01725:Abcc4	APN	14	118,738,241 (GRCm39)	missense	probably damaging	1.00
IGL01828:Abcc4	APN	14	118,790,691 (GRCm39)	splice site	probably benign
IGL02174:Abcc4	APN	14	118,738,154 (GRCm39)	missense	probably damaging	0.98
IGL02391:Abcc4	APN	14	118,790,764 (GRCm39)	missense	probably damaging	1.00
IGL02500:Abcc4	APN	14	118,856,338 (GRCm39)	missense	possibly damaging	0.47
IGL02598:Abcc4	APN	14	118,905,781 (GRCm39)	nonsense	probably null
IGL02668:Abcc4	APN	14	118,848,887 (GRCm39)	missense	probably damaging	1.00
IGL02708:Abcc4	APN	14	118,738,213 (GRCm39)	missense	probably damaging	1.00
IGL02859:Abcc4	APN	14	118,753,912 (GRCm39)	missense	probably damaging	1.00
IGL03249:Abcc4	APN	14	118,865,118 (GRCm39)	splice site	probably benign
IGL03257:Abcc4	APN	14	118,852,623 (GRCm39)	missense	probably benign	0.01
IGL03298:Abcc4	APN	14	118,848,880 (GRCm39)	missense	probably damaging	1.00
1mM(1):Abcc4	UTSW	14	118,867,068 (GRCm39)	nonsense	probably null
R0743:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R0884:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R1139:Abcc4	UTSW	14	118,738,252 (GRCm39)	missense	possibly damaging	0.56
R1238:Abcc4	UTSW	14	118,835,051 (GRCm39)	splice site	probably benign
R1588:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R1678:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R1785:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1786:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1961:Abcc4	UTSW	14	118,848,871 (GRCm39)	missense	possibly damaging	0.92
R1961:Abcc4	UTSW	14	118,848,868 (GRCm39)	missense	probably damaging	0.98
R1993:Abcc4	UTSW	14	118,763,694 (GRCm39)	missense	probably benign	0.02
R2025:Abcc4	UTSW	14	118,790,737 (GRCm39)	missense	probably benign	0.13
R3613:Abcc4	UTSW	14	118,864,863 (GRCm39)	critical splice donor site	probably null
R3864:Abcc4	UTSW	14	118,853,827 (GRCm39)	missense	probably benign
R4274:Abcc4	UTSW	14	118,867,034 (GRCm39)	missense	probably damaging	1.00
R4459:Abcc4	UTSW	14	118,836,805 (GRCm39)	missense	probably benign	0.11
R4601:Abcc4	UTSW	14	118,869,575 (GRCm39)	missense	probably benign	0.00
R4665:Abcc4	UTSW	14	118,766,414 (GRCm39)	missense	probably benign
R4678:Abcc4	UTSW	14	118,865,103 (GRCm39)	missense	probably damaging	0.97
R4771:Abcc4	UTSW	14	118,721,796 (GRCm39)	missense	probably benign	0.00
R4962:Abcc4	UTSW	14	118,905,811 (GRCm39)	missense	probably benign	0.33
R4997:Abcc4	UTSW	14	118,753,915 (GRCm39)	nonsense	probably null
R5273:Abcc4	UTSW	14	118,832,233 (GRCm39)	missense	possibly damaging	0.76
R5526:Abcc4	UTSW	14	118,868,449 (GRCm39)	missense	probably benign	0.10
R5652:Abcc4	UTSW	14	118,856,339 (GRCm39)	missense	probably benign	0.00
R5820:Abcc4	UTSW	14	118,841,607 (GRCm39)	missense	probably benign	0.14
R5873:Abcc4	UTSW	14	118,763,702 (GRCm39)	missense	probably benign	0.00
R6008:Abcc4	UTSW	14	118,727,978 (GRCm39)	missense	possibly damaging	0.63
R6080:Abcc4	UTSW	14	118,906,462 (GRCm39)	missense	possibly damaging	0.75
R6222:Abcc4	UTSW	14	118,767,368 (GRCm39)	missense	probably damaging	1.00
R6919:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R6931:Abcc4	UTSW	14	118,765,400 (GRCm39)	missense	probably damaging	0.99
R7013:Abcc4	UTSW	14	118,763,755 (GRCm39)	missense	probably benign
R7055:Abcc4	UTSW	14	118,832,197 (GRCm39)	nonsense	probably null
R7146:Abcc4	UTSW	14	118,852,593 (GRCm39)	missense	probably damaging	1.00
R7402:Abcc4	UTSW	14	118,943,487 (GRCm39)	missense	probably damaging	1.00
R7438:Abcc4	UTSW	14	118,853,858 (GRCm39)	missense	probably benign	0.01
R7528:Abcc4	UTSW	14	118,767,317 (GRCm39)	missense	probably damaging	0.99
R7674:Abcc4	UTSW	14	118,848,899 (GRCm39)	missense	probably damaging	1.00
R7769:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R7823:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R7847:Abcc4	UTSW	14	118,864,892 (GRCm39)	missense	probably damaging	1.00
R7989:Abcc4	UTSW	14	118,836,772 (GRCm39)	missense	probably benign	0.05
R8044:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R8214:Abcc4	UTSW	14	118,738,253 (GRCm39)	missense	probably benign	0.35
R8264:Abcc4	UTSW	14	118,832,254 (GRCm39)	missense	possibly damaging	0.81
R8309:Abcc4	UTSW	14	118,853,804 (GRCm39)	missense	probably damaging	1.00
R8369:Abcc4	UTSW	14	118,864,869 (GRCm39)	missense	probably benign	0.02
R8701:Abcc4	UTSW	14	118,836,785 (GRCm39)	missense	probably benign
R8942:Abcc4	UTSW	14	118,790,732 (GRCm39)	missense	probably damaging	1.00
R8994:Abcc4	UTSW	14	118,771,556 (GRCm39)	critical splice acceptor site	probably null
R9008:Abcc4	UTSW	14	118,849,162 (GRCm39)	missense	probably damaging	0.98
R9100:Abcc4	UTSW	14	118,853,800 (GRCm39)	missense	possibly damaging	0.65
R9119:Abcc4	UTSW	14	118,868,442 (GRCm39)	missense	probably benign	0.16
R9267:Abcc4	UTSW	14	118,869,657 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACCCTCTCTCAATGGCTG -3'
(R):5'- AAGCGTAGACTCGTGCATATAG -3'

Sequencing Primer
(F):5'- TCTCTCAATGGCTGACGGGAAG -3'
(R):5'- TCTCTCTTCCAGGAAGGA -3'

Posted On

2019-09-13