Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Abcc5'

62678

Institutional Source

Beutler Lab

Gene Symbol

Abcc5

Ensembl Gene

ENSMUSG00000022822

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

Synonyms

2900011L11Rik, Abcc5a, Mrp5, Abcc5b

MMRRC Submission

038892-MU

Accession Numbers

Ncbi RefSeq: NM_013790.2, NM_176839.1; MGI:1351644

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

20331303-20426394 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20376592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 718 (H718Q)

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079158] [ENSMUST00000115547] [ENSMUST00000232044]

AlphaFold

Q9R1X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079158
AA Change: H718Q

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: H718Q

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	179	447	1.6e-18	PFAM
low complexity region	552	563	N/A	INTRINSIC
AAA	587	760	1.16e-12	SMART
low complexity region	815	826	N/A	INTRINSIC
Pfam:ABC_membrane	858	1142	9.3e-36	PFAM
AAA	1218	1403	1.26e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115547
AA Change: H718Q

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: H718Q

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	179	447	2e-17	PFAM
low complexity region	552	563	N/A	INTRINSIC
AAA	587	760	1.16e-12	SMART
low complexity region	815	826	N/A	INTRINSIC
Pfam:ABC_membrane	858	1146	6.5e-30	PFAM
AAA	1218	1403	1.26e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150340

Predicted Effect

probably benign
Transcript: ENSMUST00000232044

Meta Mutation Damage Score

0.3775

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

MGI Phenotype

Strain: 3794119
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. The human protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that the human protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles. [provided by MGI curators]

Allele List at MGI

All alleles(81) : Targeted(4) Gene trapped(77)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Abcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Abcc5	APN	16	20422357	missense	probably benign	0.01
IGL00928:Abcc5	APN	16	20398970	unclassified	probably benign
IGL01350:Abcc5	APN	16	20368458	missense	probably benign	0.00
IGL01774:Abcc5	APN	16	20378457	missense	probably damaging	1.00
IGL01934:Abcc5	APN	16	20422441	utr 5 prime	probably benign
IGL02413:Abcc5	APN	16	20422437	utr 5 prime	probably benign
IGL02426:Abcc5	APN	16	20338925	missense	probably damaging	0.98
IGL02797:Abcc5	APN	16	20368464	missense	probably benign	0.06
IGL02938:Abcc5	APN	16	20362229	missense	possibly damaging	0.64
IGL03367:Abcc5	APN	16	20392811	utr 3 prime	probably benign
IGL03411:Abcc5	APN	16	20399560	missense	probably damaging	0.97
PIT4508001:Abcc5	UTSW	16	20357378	missense	probably damaging	0.97
R0021:Abcc5	UTSW	16	20378661	nonsense	probably null
R0021:Abcc5	UTSW	16	20378661	nonsense	probably null
R0220:Abcc5	UTSW	16	20369102	missense	probably benign
R0281:Abcc5	UTSW	16	20422400	missense	probably damaging	1.00
R0401:Abcc5	UTSW	16	20376558	missense	probably benign	0.09
R0448:Abcc5	UTSW	16	20399937	missense	probably damaging	1.00
R0477:Abcc5	UTSW	16	20368569	missense	possibly damaging	0.51
R0477:Abcc5	UTSW	16	20398885	missense	probably damaging	0.96
R0601:Abcc5	UTSW	16	20404559	splice site	probably benign
R0648:Abcc5	UTSW	16	20365882	missense	possibly damaging	0.90
R1144:Abcc5	UTSW	16	20422438	utr 5 prime	probably benign
R1552:Abcc5	UTSW	16	20398867	missense	probably damaging	0.99
R1625:Abcc5	UTSW	16	20365817	missense	probably damaging	0.99
R1748:Abcc5	UTSW	16	20333588	missense	probably benign	0.01
R1789:Abcc5	UTSW	16	20365951	missense	probably damaging	1.00
R1801:Abcc5	UTSW	16	20338887	missense	probably benign	0.43
R1909:Abcc5	UTSW	16	20376509	critical splice donor site	probably null
R2046:Abcc5	UTSW	16	20399817	missense	possibly damaging	0.90
R2203:Abcc5	UTSW	16	20405882	missense	possibly damaging	0.91
R3031:Abcc5	UTSW	16	20375113	missense	probably damaging	0.99
R3417:Abcc5	UTSW	16	20405552	splice site	probably benign
R3708:Abcc5	UTSW	16	20372180	missense	probably benign	0.30
R3731:Abcc5	UTSW	16	20398934	nonsense	probably null
R3829:Abcc5	UTSW	16	20365865	missense	probably benign	0.00
R3847:Abcc5	UTSW	16	20372156	missense	probably benign	0.12
R3850:Abcc5	UTSW	16	20372156	missense	probably benign	0.12
R3955:Abcc5	UTSW	16	20405543	missense	probably damaging	0.97
R4072:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4432:Abcc5	UTSW	16	20368187	splice site	probably null
R4433:Abcc5	UTSW	16	20368187	splice site	probably null
R4505:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4506:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4715:Abcc5	UTSW	16	20398876	missense	probably damaging	1.00
R4739:Abcc5	UTSW	16	20399626	missense	probably damaging	1.00
R4866:Abcc5	UTSW	16	20422432	start codon destroyed	probably null	1.00
R4905:Abcc5	UTSW	16	20399928	missense	probably damaging	1.00
R4907:Abcc5	UTSW	16	20376546	missense	possibly damaging	0.86
R5088:Abcc5	UTSW	16	20376662	missense	probably damaging	1.00
R5232:Abcc5	UTSW	16	20338922	missense	probably damaging	0.96
R5559:Abcc5	UTSW	16	20338886	missense	probably damaging	1.00
R5647:Abcc5	UTSW	16	20399847	missense	probably damaging	1.00
R5861:Abcc5	UTSW	16	20399894	missense	probably damaging	1.00
R6190:Abcc5	UTSW	16	20392779	missense	probably benign	0.02
R6213:Abcc5	UTSW	16	20400012	missense	probably damaging	1.00
R6511:Abcc5	UTSW	16	20376594	missense	probably damaging	0.99
R6732:Abcc5	UTSW	16	20404684	missense	probably benign	0.01
R6815:Abcc5	UTSW	16	20333630	missense	probably damaging	1.00
R6913:Abcc5	UTSW	16	20378744	missense	possibly damaging	0.73
R6945:Abcc5	UTSW	16	20400009	missense	probably benign
R7167:Abcc5	UTSW	16	20405501	missense	possibly damaging	0.70
R7276:Abcc5	UTSW	16	20376508	splice site	probably null
R7318:Abcc5	UTSW	16	20392543	missense	probably benign	0.01
R7380:Abcc5	UTSW	16	20397034	missense	possibly damaging	0.84
R7419:Abcc5	UTSW	16	20422423	missense	possibly damaging	0.57
R7451:Abcc5	UTSW	16	20375070	missense	probably damaging	1.00
R7475:Abcc5	UTSW	16	20399989	missense	probably benign	0.04
R7567:Abcc5	UTSW	16	20405510	missense	probably damaging	1.00
R7601:Abcc5	UTSW	16	20375132	nonsense	probably null
R7623:Abcc5	UTSW	16	20344696	missense	possibly damaging	0.95
R7682:Abcc5	UTSW	16	20368053	missense	probably damaging	1.00
R8128:Abcc5	UTSW	16	20365723	missense	probably damaging	0.98
R8327:Abcc5	UTSW	16	20422318	missense	probably benign	0.00
R8518:Abcc5	UTSW	16	20404648	missense	possibly damaging	0.80
R8678:Abcc5	UTSW	16	20365935	missense	probably benign	0.31
R8679:Abcc5	UTSW	16	20333729	missense	possibly damaging	0.89
R9206:Abcc5	UTSW	16	20389389	missense	probably benign	0.00
R9254:Abcc5	UTSW	16	20333687	missense	probably damaging	1.00
R9379:Abcc5	UTSW	16	20333687	missense	probably damaging	1.00
R9501:Abcc5	UTSW	16	20396103	missense	probably damaging	1.00
R9647:Abcc5	UTSW	16	20376560	missense	probably benign	0.01
X0022:Abcc5	UTSW	16	20392587	missense	probably damaging	1.00
X0053:Abcc5	UTSW	16	20364042	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCATCGACAGATGCCACCTCAG -3'
(R):5'- AGTTGTAGGGTGACTTCCTCAGCC -3'

Sequencing Primer
(F):5'- TGCAGAACCAGTGTGTTCC -3'
(R):5'- CAGGCAGTTTGTGAAGGC -3'

Posted On

2013-07-30