Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Abcc9'

571620

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

Accession Numbers

Ncbi RefSeq: NM_001044720.1; MGI: 1352630

Is this an essential gene?

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

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142587862-142702315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142671593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 582 (P582S)

Ref Sequence

ENSEMBL: ENSMUSP00000084805 (fasta)

Gene Model

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

AlphaFold

P70170

Predicted Effect

probably damaging
Transcript: ENSMUST00000073173
AA Change: P582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: P582S

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 damaging
Transcript: ENSMUST00000087527
AA Change: P582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: P582S

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 damaging
Transcript: ENSMUST00000100827
AA Change: P582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: P582S

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 damaging
Transcript: ENSMUST00000111771
AA Change: P582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: P582S

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 damaging
Transcript: ENSMUST00000205202
AA Change: P582S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: P582S

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

Meta Mutation Damage Score

0.9689

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,143	M226K	probably benign	Het
2010300C02Rik	T	C	1: 37,614,618	T1036A	possibly damaging	Het
4921524L21Rik	T	G	18: 6,626,385	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311	D1061N	probably benign	Het
Abhd5	G	A	9: 122,379,573	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215	T315I	probably damaging	Het
Arntl2	G	A	6: 146,822,134	V321I	not run	Het
Asic5	C	T	3: 82,021,076	P491S	probably benign	Het
Atp5b	T	C	10: 128,085,522	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042	I51N	probably damaging	Het
C4b	A	G	17: 34,743,659	L23S	probably damaging	Het
C77080	A	G	4: 129,225,418	Y170H	probably damaging	Het
Cables2	A	G	2: 180,260,336	V410A		Het
Cdyl	A	G	13: 35,863,395	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,827,986	M194V	probably benign	Het
Colec11	T	A	12: 28,594,715	D260V	probably damaging	Het
Cux2	T	C	5: 121,861,256	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516	L254*	probably null	Het
Fam129b	T	C	2: 32,922,642	S468P	possibly damaging	Het
Fam43b	A	G	4: 138,395,841	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075	W386L	probably benign	Het
Fgd6	T	A	10: 94,044,047	C254*	probably null	Het
Fgd6	C	A	10: 94,139,881	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,671,764	D98E	possibly damaging	Het
Gm8251	T	A	1: 44,060,916	K341*	probably null	Het
Hectd1	C	T	12: 51,785,852	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394		probably null	Het
Kcnj5	A	C	9: 32,322,749	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224	Y2348*	probably null	Het
Nlrc3	T	C	16: 3,963,590	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1129	T	A	2: 87,575,708	V208E	probably damaging	Het
Olfr1222	C	A	2: 89,124,836	R298S	probably benign	Het
Olfr527	A	T	7: 140,336,741	D293V	possibly damaging	Het
Pcna	A	G	2: 132,252,877	S54P	probably benign	Het
Pde6a	A	G	18: 61,258,293	T570A	probably damaging	Het
Phf21b	A	T	15: 84,855,717	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prob1	A	G	18: 35,653,299	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578		probably null	Het
Robo1	C	T	16: 72,989,631	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942		probably null	Het
Setd5	T	G	6: 113,147,557	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,458,739	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489	S113*	probably null	Het
Syne2	T	A	12: 76,103,036	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439	I38L	probably damaging	Het
Tepsin	G	T	11: 120,091,708	T512K	possibly damaging	Het
Utp20	A	G	10: 88,770,724	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372		probably null	Het
Zmynd8	T	C	2: 165,840,009	T201A	probably damaging	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
R1264:Abcc9	UTSW	6	142646377	splice site	probably benign
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
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	not run
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'- AACAGTGGGAATCTTTGCACATC -3'
(R):5'- CCAGCACAGTAGGATTCGCTAG -3'

Sequencing Primer
(F):5'- GTGGGAATCTTTGCACATCATTTTC -3'
(R):5'- CAGTAGGATTCGCTAGGTTCATTAAG -3'

Posted On

2019-09-13