Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Abcc9'

151109

Institutional Source

Beutler Lab

Gene Symbol

Abcc9

Ensembl Gene

ENSMUSG00000030249

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 9

Synonyms

SUR2B, Sur2, SUR2A

MMRRC Submission

039331-MU

Accession Numbers

Ncbi RefSeq: NM_001044720.1; MGI: 1352630

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142587862-142702315 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 142646377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000205202]

AlphaFold

P70170

Predicted Effect

probably benign
Transcript: ENSMUST00000073173

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	7.7e-33	PFAM
AAA	659	867	3.11e-13	SMART
coiled coil region	881	935	N/A	INTRINSIC
Pfam:ABC_membrane	956	1228	6.6e-35	PFAM
AAA	1300	1502	9.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087527

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	8e-33	PFAM
AAA	694	902	3.11e-13	SMART
coiled coil region	916	970	N/A	INTRINSIC
Pfam:ABC_membrane	991	1263	6.8e-35	PFAM
AAA	1335	1537	9.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100827

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	7.1e-35	PFAM
AAA	694	902	3.11e-13	SMART
coiled coil region	916	970	N/A	INTRINSIC
Pfam:ABC_membrane	991	1263	5.2e-38	PFAM
AAA	1335	1520	5.13e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111771

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	1.4e-32	PFAM
AAA	694	889	3.77e-12	SMART
coiled coil region	903	957	N/A	INTRINSIC
Pfam:ABC_membrane	978	1250	1.2e-34	PFAM
AAA	1322	1524	9.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205202

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	6.9e-35	PFAM
AAA	659	867	3.11e-13	SMART
coiled coil region	881	935	N/A	INTRINSIC
Pfam:ABC_membrane	956	1228	5e-38	PFAM
AAA	1300	1502	9.94e-12	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

MGI Phenotype

Strain: 2155916
Lethality: D42-D210
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 is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,857,553	C27S	probably benign	Het
Adgrb3	C	T	1: 25,559,850	G258E	probably damaging	Het
Akna	T	C	4: 63,381,725		probably null	Het
Angpt2	T	C	8: 18,741,217	N21S	probably benign	Het
Ano6	A	G	15: 95,949,566	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,642,519		probably benign	Het
Clec10a	T	A	11: 70,169,741	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,457,609	R770G	probably benign	Het
Cndp2	C	A	18: 84,678,791	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
Col4a3	A	T	1: 82,643,301		probably benign	Het
Daam1	A	G	12: 71,975,311		probably benign	Het
H2-M9	A	G	17: 36,642,592	V18A	probably benign	Het
Heatr1	T	A	13: 12,424,610		probably benign	Het
Impg1	T	C	9: 80,314,393	D715G	probably benign	Het
Incenp	T	C	19: 9,884,015	K425E	unknown	Het
Kif13b	T	C	14: 64,776,232		probably benign	Het
Msh2	T	A	17: 87,707,179		probably null	Het
Myh2	A	G	11: 67,180,778	N474D	probably damaging	Het
Myo18b	T	C	5: 112,830,319	T1246A	probably benign	Het
Nob1	T	C	8: 107,421,504	H102R	probably damaging	Het
Olfr1427	G	T	19: 12,098,834	D268E	probably benign	Het
Pard3b	A	T	1: 62,164,157	I415F	probably damaging	Het
Pfkl	T	G	10: 77,993,416	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,485,763	V447A	probably benign	Het
Poli	C	T	18: 70,517,503	V266I	probably benign	Het
Rapgef4	A	T	2: 72,031,105	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,375,149		probably benign	Het
Six3	T	A	17: 85,621,857	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,218,238	E944D	possibly damaging	Het
Sptb	A	G	12: 76,612,607	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,373,837		probably benign	Het
Trrap	A	G	5: 144,789,599		probably benign	Het
Wbp11	A	G	6: 136,814,515		probably benign	Het

Other mutations in Abcc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Abcc9	APN	6	142633190	splice site	probably benign
IGL00670:Abcc9	APN	6	142687281	missense	probably damaging	1.00
IGL00675:Abcc9	APN	6	142664621	missense	probably damaging	1.00
IGL00741:Abcc9	APN	6	142687230	missense	probably benign
IGL01371:Abcc9	APN	6	142656614	missense	probably benign	0.04
IGL01686:Abcc9	APN	6	142603075	missense	possibly damaging	0.71
IGL01724:Abcc9	APN	6	142664533	missense	probably benign	0.00
IGL01807:Abcc9	APN	6	142605914	missense	probably damaging	1.00
IGL01941:Abcc9	APN	6	142605904	missense	probably damaging	1.00
IGL01946:Abcc9	APN	6	142626037	missense	probably benign	0.16
IGL02210:Abcc9	APN	6	142687371	missense	probably damaging	1.00
IGL02498:Abcc9	APN	6	142671539	critical splice donor site	probably null
IGL02535:Abcc9	APN	6	142628426	missense	probably benign	0.00
IGL02552:Abcc9	APN	6	142605919	missense	possibly damaging	0.94
IGL02812:Abcc9	APN	6	142697790	missense	possibly damaging	0.77
IGL02954:Abcc9	APN	6	142646281	missense	probably damaging	0.97
IGL03035:Abcc9	APN	6	142627593	missense	probably damaging	1.00
IGL03040:Abcc9	APN	6	142652597	nonsense	probably null
IGL03100:Abcc9	APN	6	142694544	missense	probably damaging	1.00
IGL03157:Abcc9	APN	6	142605923	splice site	probably benign
R0054:Abcc9	UTSW	6	142601774	critical splice donor site	probably null
R0054:Abcc9	UTSW	6	142601774	critical splice donor site	probably null
R0084:Abcc9	UTSW	6	142658551	missense	probably damaging	0.97
R0211:Abcc9	UTSW	6	142688984	missense	probably benign	0.01
R0349:Abcc9	UTSW	6	142664625	missense	probably benign	0.00
R0387:Abcc9	UTSW	6	142639504	nonsense	probably null
R0393:Abcc9	UTSW	6	142645878	splice site	probably benign
R0528:Abcc9	UTSW	6	142692880	missense	probably damaging	1.00
R0588:Abcc9	UTSW	6	142603061	nonsense	probably null
R0646:Abcc9	UTSW	6	142682104	missense	probably benign	0.05
R0691:Abcc9	UTSW	6	142639253	missense	possibly damaging	0.94
R0881:Abcc9	UTSW	6	142646303	missense	probably damaging	1.00
R1340:Abcc9	UTSW	6	142682855	splice site	probably benign
R1413:Abcc9	UTSW	6	142590496	missense	probably damaging	1.00
R1413:Abcc9	UTSW	6	142627519	missense	possibly damaging	0.65
R1535:Abcc9	UTSW	6	142664635	missense	probably damaging	1.00
R1595:Abcc9	UTSW	6	142633095	missense	probably benign	0.02
R1670:Abcc9	UTSW	6	142594722	missense	possibly damaging	0.89
R1769:Abcc9	UTSW	6	142627468	splice site	probably benign
R1888:Abcc9	UTSW	6	142679314	missense	probably benign
R1888:Abcc9	UTSW	6	142679314	missense	probably benign
R1918:Abcc9	UTSW	6	142697682	missense	probably damaging	1.00
R1925:Abcc9	UTSW	6	142671607	missense	probably damaging	0.98
R2019:Abcc9	UTSW	6	142675434	missense	probably damaging	1.00
R2698:Abcc9	UTSW	6	142633136	missense	possibly damaging	0.93
R2860:Abcc9	UTSW	6	142626010	missense	probably benign	0.01
R2861:Abcc9	UTSW	6	142626010	missense	probably benign	0.01
R2980:Abcc9	UTSW	6	142687308	missense	probably benign	0.00
R3115:Abcc9	UTSW	6	142689029	missense	probably benign	0.08
R3617:Abcc9	UTSW	6	142679289	missense	probably damaging	0.97
R3880:Abcc9	UTSW	6	142639233	missense	probably damaging	1.00
R4063:Abcc9	UTSW	6	142605919	missense	possibly damaging	0.94
R4065:Abcc9	UTSW	6	142645890	missense	probably damaging	1.00
R4290:Abcc9	UTSW	6	142594012	missense	probably benign	0.08
R4538:Abcc9	UTSW	6	142614412	critical splice donor site	probably null
R4615:Abcc9	UTSW	6	142689107	missense	possibly damaging	0.93
R4659:Abcc9	UTSW	6	142672595	splice site	probably null
R4774:Abcc9	UTSW	6	142639317	missense	probably damaging	1.00
R4788:Abcc9	UTSW	6	142620730	nonsense	probably null
R4832:Abcc9	UTSW	6	142671556	missense	probably damaging	1.00
R4844:Abcc9	UTSW	6	142689098	missense	probably benign	0.09
R4903:Abcc9	UTSW	6	142600965	missense	probably damaging	1.00
R4921:Abcc9	UTSW	6	142590436	missense	probably benign
R4960:Abcc9	UTSW	6	142620783	splice site	probably null
R4983:Abcc9	UTSW	6	142682141	missense	probably benign	0.44
R4986:Abcc9	UTSW	6	142627591	missense	probably benign	0.00
R5060:Abcc9	UTSW	6	142626110	intron	probably benign
R5120:Abcc9	UTSW	6	142656618	missense	probably benign	0.00
R5198:Abcc9	UTSW	6	142626000	missense	probably benign	0.00
R5301:Abcc9	UTSW	6	142590481	missense	probably benign	0.41
R5328:Abcc9	UTSW	6	142682059	missense	probably benign	0.25
R5568:Abcc9	UTSW	6	142689016	missense	possibly damaging	0.62
R5654:Abcc9	UTSW	6	142625645	intron	probably benign
R5694:Abcc9	UTSW	6	142600947	missense	probably damaging	1.00
R5734:Abcc9	UTSW	6	142625731	intron	probably benign
R5774:Abcc9	UTSW	6	142628559	missense	probably damaging	0.98
R5802:Abcc9	UTSW	6	142656676	critical splice acceptor site	probably null
R5890:Abcc9	UTSW	6	142604828	critical splice donor site	probably null
R5946:Abcc9	UTSW	6	142625952	missense	probably damaging	1.00
R5971:Abcc9	UTSW	6	142639575	missense	probably damaging	1.00
R6078:Abcc9	UTSW	6	142639575	missense	probably damaging	1.00
R6392:Abcc9	UTSW	6	142682099	missense	probably damaging	1.00
R6400:Abcc9	UTSW	6	142692709	makesense	probably null
R6478:Abcc9	UTSW	6	142679308	missense	probably damaging	1.00
R6481:Abcc9	UTSW	6	142604895	missense	probably damaging	0.99
R6564:Abcc9	UTSW	6	142603108	missense	probably damaging	1.00
R6700:Abcc9	UTSW	6	142687287	missense	possibly damaging	0.94
R6902:Abcc9	UTSW	6	142679227	missense	probably damaging	1.00
R6946:Abcc9	UTSW	6	142679227	missense	probably damaging	1.00
R6989:Abcc9	UTSW	6	142688981	missense	probably damaging	0.97
R7052:Abcc9	UTSW	6	142658535	missense	probably benign	0.00
R7062:Abcc9	UTSW	6	142599146	missense	probably damaging	1.00
R7121:Abcc9	UTSW	6	142689127	nonsense	probably null
R7284:Abcc9	UTSW	6	142682917	missense	probably damaging	1.00
R7296:Abcc9	UTSW	6	142671593	missense	probably damaging	1.00
R7353:Abcc9	UTSW	6	142601005	missense	probably damaging	1.00
R7359:Abcc9	UTSW	6	142671682	missense	probably damaging	1.00
R7815:Abcc9	UTSW	6	142652605	missense	probably damaging	1.00
R7894:Abcc9	UTSW	6	142594007	makesense	probably null
R8095:Abcc9	UTSW	6	142644322	missense	probably benign	0.22
R8099:Abcc9	UTSW	6	142675531	missense	probably damaging	1.00
R8245:Abcc9	UTSW	6	142594144	critical splice acceptor site	probably null
R8355:Abcc9	UTSW	6	142692752	missense	probably benign	0.00
R8356:Abcc9	UTSW	6	142590370	missense	probably benign	0.06
R8365:Abcc9	UTSW	6	142599072	missense	probably benign	0.03
R8846:Abcc9	UTSW	6	142605884	missense	possibly damaging	0.56
R8886:Abcc9	UTSW	6	142600694	intron	probably benign
R8939:Abcc9	UTSW	6	142679251	missense	probably damaging	0.99
R9049:Abcc9	UTSW	6	142682932	missense	probably damaging	0.99
R9113:Abcc9	UTSW	6	142645930	missense	probably damaging	1.00
R9368:Abcc9	UTSW	6	142694525	missense	probably damaging	1.00
R9401:Abcc9	UTSW	6	142598110	missense	possibly damaging	0.90
R9407:Abcc9	UTSW	6	142628503	missense	possibly damaging	0.88
R9597:Abcc9	UTSW	6	142633087	missense	possibly damaging	0.81
U15987:Abcc9	UTSW	6	142639575	missense	probably damaging	1.00
Z1177:Abcc9	UTSW	6	142594758	missense	probably damaging	1.00
Z1177:Abcc9	UTSW	6	142625982	missense	probably benign	0.07
Z1177:Abcc9	UTSW	6	142645938	missense	probably null	0.96

Predicted Primers

PCR Primer
(F):5'- GAATTGGCTCCAAATTCATGGCTCAC -3'
(R):5'- CATTGAACACTTCAGCGCAGAAGAATC -3'

Sequencing Primer
(F):5'- CATGTGGTTGTTTCGGTTGTAAAATC -3'
(R):5'- TTAGATCCAGATCCCCATAATTGAAG -3'

Posted On

2014-01-29