Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03035:Abcc9'

408631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc9

Ensembl Gene

ENSMUSG00000030249

Gene Name

ATP-binding cassette, sub-family C member 9

Synonyms

SUR2A, Sur2, SUR2B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL03035

Quality Score

Status

Chromosome

Chromosomal Location

142533588-142648041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142573319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1004 (L1004P)

Ref Sequence

ENSEMBL: ENSMUSP00000144779 (fasta)

Gene Model

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

AlphaFold

P70170

Predicted Effect

probably damaging
Transcript: ENSMUST00000073173
AA Change: L1004P

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

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: L1004P

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: L1039P

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

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: L1039P

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: L1039P

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

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: L1039P

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: L1026P

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

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: L1026P

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

noncoding transcript
Transcript: ENSMUST00000194811

Predicted Effect

probably damaging
Transcript: ENSMUST00000205202
AA Change: L1004P

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

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: L1004P

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

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,741,518 (GRCm39)	I385T	possibly damaging	Het
Alpk3	T	C	7: 80,728,352 (GRCm39)	V494A	probably benign	Het
Camta2	C	A	11: 70,562,335 (GRCm39)	E1021*	probably null	Het
Ccdc6	T	A	10: 70,018,006 (GRCm39)	S334T	probably benign	Het
Cd84	T	C	1: 171,679,601 (GRCm39)	V93A	probably damaging	Het
Ceacam20	T	C	7: 19,711,833 (GRCm39)		probably null	Het
Crip2	A	C	12: 113,107,745 (GRCm39)	T103P	probably benign	Het
Cyp4f14	T	A	17: 33,133,608 (GRCm39)	T83S	probably benign	Het
Dapk1	T	A	13: 60,864,587 (GRCm39)	V127D	probably damaging	Het
Dnah7c	A	G	1: 46,563,277 (GRCm39)	E609G	probably benign	Het
Dscam	T	A	16: 96,621,170 (GRCm39)	I513F	possibly damaging	Het
Ell2	T	A	13: 75,911,767 (GRCm39)	L351*	probably null	Het
Emcn	G	T	3: 137,078,612 (GRCm39)		probably null	Het
Fdft1	A	T	14: 63,400,838 (GRCm39)	C98*	probably null	Het
Fer1l4	A	G	2: 155,864,526 (GRCm39)	S1663P	possibly damaging	Het
Flt4	C	A	11: 49,536,724 (GRCm39)	Y1231*	probably null	Het
Gatb	A	G	3: 85,509,254 (GRCm39)	K139E	probably damaging	Het
Gtf2a1	C	A	12: 91,539,411 (GRCm39)		probably benign	Het
Gtf3c2	A	C	5: 31,323,358 (GRCm39)	V574G	possibly damaging	Het
Heatr1	T	C	13: 12,428,100 (GRCm39)		probably benign	Het
Homer2	T	A	7: 81,274,026 (GRCm39)	T57S	possibly damaging	Het
Ice2	C	A	9: 69,332,970 (GRCm39)	F825L	probably benign	Het
Lepr	C	A	4: 101,622,177 (GRCm39)	L370I	probably damaging	Het
Nalcn	G	A	14: 123,515,630 (GRCm39)	Q1724*	probably null	Het
Nufip1	A	G	14: 76,353,258 (GRCm39)	D222G	probably damaging	Het
Or4f4b	T	C	2: 111,314,168 (GRCm39)	V159A	probably benign	Het
Prl3b1	A	G	13: 27,433,516 (GRCm39)		probably benign	Het
Ptbp3	A	T	4: 59,477,218 (GRCm39)	M393K	probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rapgef2	T	A	3: 79,001,731 (GRCm39)	H282L	probably damaging	Het
Rars2	T	C	4: 34,656,865 (GRCm39)		probably null	Het
Rnf213	G	A	11: 119,336,452 (GRCm39)		probably benign	Het
Ros1	C	A	10: 51,952,080 (GRCm39)		probably benign	Het
Slx4ip	A	G	2: 136,909,623 (GRCm39)	D206G	possibly damaging	Het
Sprr1a	T	A	3: 92,391,884 (GRCm39)	D39V	probably benign	Het
Stab1	A	G	14: 30,869,726 (GRCm39)	V1442A	probably benign	Het
Tbx3	C	A	5: 119,821,161 (GRCm39)		probably benign	Het
Ubl3	A	G	5: 148,442,947 (GRCm39)	*118Q	probably null	Het
Vmn2r55	G	A	7: 12,404,743 (GRCm39)	S220L	probably benign	Het
Vps36	A	G	8: 22,708,431 (GRCm39)	K362E	probably benign	Het
Zfp268	C	A	4: 145,348,802 (GRCm39)	Q80K	possibly damaging	Het

Other mutations in Abcc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Abcc9	APN	6	142,578,916 (GRCm39)	splice site	probably benign
IGL00670:Abcc9	APN	6	142,633,007 (GRCm39)	missense	probably damaging	1.00
IGL00675:Abcc9	APN	6	142,610,347 (GRCm39)	missense	probably damaging	1.00
IGL00741:Abcc9	APN	6	142,632,956 (GRCm39)	missense	probably benign
IGL01371:Abcc9	APN	6	142,602,340 (GRCm39)	missense	probably benign	0.04
IGL01686:Abcc9	APN	6	142,548,801 (GRCm39)	missense	possibly damaging	0.71
IGL01724:Abcc9	APN	6	142,610,259 (GRCm39)	missense	probably benign	0.00
IGL01807:Abcc9	APN	6	142,551,640 (GRCm39)	missense	probably damaging	1.00
IGL01941:Abcc9	APN	6	142,551,630 (GRCm39)	missense	probably damaging	1.00
IGL01946:Abcc9	APN	6	142,571,763 (GRCm39)	missense	probably benign	0.16
IGL02210:Abcc9	APN	6	142,633,097 (GRCm39)	missense	probably damaging	1.00
IGL02498:Abcc9	APN	6	142,617,265 (GRCm39)	critical splice donor site	probably null
IGL02535:Abcc9	APN	6	142,574,152 (GRCm39)	missense	probably benign	0.00
IGL02552:Abcc9	APN	6	142,551,645 (GRCm39)	missense	possibly damaging	0.94
IGL02812:Abcc9	APN	6	142,643,516 (GRCm39)	missense	possibly damaging	0.77
IGL02954:Abcc9	APN	6	142,592,007 (GRCm39)	missense	probably damaging	0.97
IGL03040:Abcc9	APN	6	142,598,323 (GRCm39)	nonsense	probably null
IGL03100:Abcc9	APN	6	142,640,270 (GRCm39)	missense	probably damaging	1.00
IGL03157:Abcc9	APN	6	142,551,649 (GRCm39)	splice site	probably benign
R0054:Abcc9	UTSW	6	142,547,500 (GRCm39)	critical splice donor site	probably null
R0054:Abcc9	UTSW	6	142,547,500 (GRCm39)	critical splice donor site	probably null
R0084:Abcc9	UTSW	6	142,604,277 (GRCm39)	missense	probably damaging	0.97
R0211:Abcc9	UTSW	6	142,634,710 (GRCm39)	missense	probably benign	0.01
R0349:Abcc9	UTSW	6	142,610,351 (GRCm39)	missense	probably benign	0.00
R0387:Abcc9	UTSW	6	142,585,230 (GRCm39)	nonsense	probably null
R0393:Abcc9	UTSW	6	142,591,604 (GRCm39)	splice site	probably benign
R0528:Abcc9	UTSW	6	142,638,606 (GRCm39)	missense	probably damaging	1.00
R0588:Abcc9	UTSW	6	142,548,787 (GRCm39)	nonsense	probably null
R0646:Abcc9	UTSW	6	142,627,830 (GRCm39)	missense	probably benign	0.05
R0691:Abcc9	UTSW	6	142,584,979 (GRCm39)	missense	possibly damaging	0.94
R0881:Abcc9	UTSW	6	142,592,029 (GRCm39)	missense	probably damaging	1.00
R1264:Abcc9	UTSW	6	142,592,103 (GRCm39)	splice site	probably benign
R1340:Abcc9	UTSW	6	142,628,581 (GRCm39)	splice site	probably benign
R1413:Abcc9	UTSW	6	142,573,245 (GRCm39)	missense	possibly damaging	0.65
R1413:Abcc9	UTSW	6	142,536,222 (GRCm39)	missense	probably damaging	1.00
R1535:Abcc9	UTSW	6	142,610,361 (GRCm39)	missense	probably damaging	1.00
R1595:Abcc9	UTSW	6	142,578,821 (GRCm39)	missense	probably benign	0.02
R1670:Abcc9	UTSW	6	142,540,448 (GRCm39)	missense	possibly damaging	0.89
R1769:Abcc9	UTSW	6	142,573,194 (GRCm39)	splice site	probably benign
R1888:Abcc9	UTSW	6	142,625,040 (GRCm39)	missense	probably benign
R1888:Abcc9	UTSW	6	142,625,040 (GRCm39)	missense	probably benign
R1918:Abcc9	UTSW	6	142,643,408 (GRCm39)	missense	probably damaging	1.00
R1925:Abcc9	UTSW	6	142,617,333 (GRCm39)	missense	probably damaging	0.98
R2019:Abcc9	UTSW	6	142,621,160 (GRCm39)	missense	probably damaging	1.00
R2698:Abcc9	UTSW	6	142,578,862 (GRCm39)	missense	possibly damaging	0.93
R2860:Abcc9	UTSW	6	142,571,736 (GRCm39)	missense	probably benign	0.01
R2861:Abcc9	UTSW	6	142,571,736 (GRCm39)	missense	probably benign	0.01
R2980:Abcc9	UTSW	6	142,633,034 (GRCm39)	missense	probably benign	0.00
R3115:Abcc9	UTSW	6	142,634,755 (GRCm39)	missense	probably benign	0.08
R3617:Abcc9	UTSW	6	142,625,015 (GRCm39)	missense	probably damaging	0.97
R3880:Abcc9	UTSW	6	142,584,959 (GRCm39)	missense	probably damaging	1.00
R4063:Abcc9	UTSW	6	142,551,645 (GRCm39)	missense	possibly damaging	0.94
R4065:Abcc9	UTSW	6	142,591,616 (GRCm39)	missense	probably damaging	1.00
R4290:Abcc9	UTSW	6	142,539,738 (GRCm39)	missense	probably benign	0.08
R4538:Abcc9	UTSW	6	142,560,138 (GRCm39)	critical splice donor site	probably null
R4615:Abcc9	UTSW	6	142,634,833 (GRCm39)	missense	possibly damaging	0.93
R4659:Abcc9	UTSW	6	142,618,321 (GRCm39)	splice site	probably null
R4774:Abcc9	UTSW	6	142,585,043 (GRCm39)	missense	probably damaging	1.00
R4788:Abcc9	UTSW	6	142,566,456 (GRCm39)	nonsense	probably null
R4832:Abcc9	UTSW	6	142,617,282 (GRCm39)	missense	probably damaging	1.00
R4844:Abcc9	UTSW	6	142,634,824 (GRCm39)	missense	probably benign	0.09
R4903:Abcc9	UTSW	6	142,546,691 (GRCm39)	missense	probably damaging	1.00
R4921:Abcc9	UTSW	6	142,536,162 (GRCm39)	missense	probably benign
R4960:Abcc9	UTSW	6	142,566,509 (GRCm39)	splice site	probably null
R4983:Abcc9	UTSW	6	142,627,867 (GRCm39)	missense	probably benign	0.44
R4986:Abcc9	UTSW	6	142,573,317 (GRCm39)	missense	probably benign	0.00
R5060:Abcc9	UTSW	6	142,571,836 (GRCm39)	intron	probably benign
R5120:Abcc9	UTSW	6	142,602,344 (GRCm39)	missense	probably benign	0.00
R5198:Abcc9	UTSW	6	142,571,726 (GRCm39)	missense	probably benign	0.00
R5301:Abcc9	UTSW	6	142,536,207 (GRCm39)	missense	probably benign	0.41
R5328:Abcc9	UTSW	6	142,627,785 (GRCm39)	missense	probably benign	0.25
R5568:Abcc9	UTSW	6	142,634,742 (GRCm39)	missense	possibly damaging	0.62
R5654:Abcc9	UTSW	6	142,571,371 (GRCm39)	intron	probably benign
R5694:Abcc9	UTSW	6	142,546,673 (GRCm39)	missense	probably damaging	1.00
R5734:Abcc9	UTSW	6	142,571,457 (GRCm39)	intron	probably benign
R5774:Abcc9	UTSW	6	142,574,285 (GRCm39)	missense	probably damaging	0.98
R5802:Abcc9	UTSW	6	142,602,402 (GRCm39)	critical splice acceptor site	probably null
R5890:Abcc9	UTSW	6	142,550,554 (GRCm39)	critical splice donor site	probably null
R5946:Abcc9	UTSW	6	142,571,678 (GRCm39)	missense	probably damaging	1.00
R5971:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
R6078:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
R6392:Abcc9	UTSW	6	142,627,825 (GRCm39)	missense	probably damaging	1.00
R6400:Abcc9	UTSW	6	142,638,435 (GRCm39)	makesense	probably null
R6478:Abcc9	UTSW	6	142,625,034 (GRCm39)	missense	probably damaging	1.00
R6481:Abcc9	UTSW	6	142,550,621 (GRCm39)	missense	probably damaging	0.99
R6564:Abcc9	UTSW	6	142,548,834 (GRCm39)	missense	probably damaging	1.00
R6700:Abcc9	UTSW	6	142,633,013 (GRCm39)	missense	possibly damaging	0.94
R6902:Abcc9	UTSW	6	142,624,953 (GRCm39)	missense	probably damaging	1.00
R6946:Abcc9	UTSW	6	142,624,953 (GRCm39)	missense	probably damaging	1.00
R6989:Abcc9	UTSW	6	142,634,707 (GRCm39)	missense	probably damaging	0.97
R7052:Abcc9	UTSW	6	142,604,261 (GRCm39)	missense	probably benign	0.00
R7062:Abcc9	UTSW	6	142,544,872 (GRCm39)	missense	probably damaging	1.00
R7121:Abcc9	UTSW	6	142,634,853 (GRCm39)	nonsense	probably null
R7284:Abcc9	UTSW	6	142,628,643 (GRCm39)	missense	probably damaging	1.00
R7296:Abcc9	UTSW	6	142,617,319 (GRCm39)	missense	probably damaging	1.00
R7353:Abcc9	UTSW	6	142,546,731 (GRCm39)	missense	probably damaging	1.00
R7359:Abcc9	UTSW	6	142,617,408 (GRCm39)	missense	probably damaging	1.00
R7815:Abcc9	UTSW	6	142,598,331 (GRCm39)	missense	probably damaging	1.00
R7894:Abcc9	UTSW	6	142,539,733 (GRCm39)	makesense	probably null
R8095:Abcc9	UTSW	6	142,590,048 (GRCm39)	missense	probably benign	0.22
R8099:Abcc9	UTSW	6	142,621,257 (GRCm39)	missense	probably damaging	1.00
R8245:Abcc9	UTSW	6	142,539,870 (GRCm39)	critical splice acceptor site	probably null
R8355:Abcc9	UTSW	6	142,638,478 (GRCm39)	missense	probably benign	0.00
R8356:Abcc9	UTSW	6	142,536,096 (GRCm39)	missense	probably benign	0.06
R8365:Abcc9	UTSW	6	142,544,798 (GRCm39)	missense	probably benign	0.03
R8846:Abcc9	UTSW	6	142,551,610 (GRCm39)	missense	possibly damaging	0.56
R8886:Abcc9	UTSW	6	142,546,420 (GRCm39)	intron	probably benign
R8939:Abcc9	UTSW	6	142,624,977 (GRCm39)	missense	probably damaging	0.99
R9049:Abcc9	UTSW	6	142,628,658 (GRCm39)	missense	probably damaging	0.99
R9113:Abcc9	UTSW	6	142,591,656 (GRCm39)	missense	probably damaging	1.00
R9368:Abcc9	UTSW	6	142,640,251 (GRCm39)	missense	probably damaging	1.00
R9401:Abcc9	UTSW	6	142,543,836 (GRCm39)	missense	possibly damaging	0.90
R9407:Abcc9	UTSW	6	142,574,229 (GRCm39)	missense	possibly damaging	0.88
R9597:Abcc9	UTSW	6	142,578,813 (GRCm39)	missense	possibly damaging	0.81
R9600:Abcc9	UTSW	6	142,536,102 (GRCm39)	missense	possibly damaging	0.54
R9687:Abcc9	UTSW	6	142,578,889 (GRCm39)	missense	probably benign	0.00
R9698:Abcc9	UTSW	6	142,571,757 (GRCm39)	missense	probably benign
R9761:Abcc9	UTSW	6	142,544,854 (GRCm39)	missense	possibly damaging	0.78
U15987:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcc9	UTSW	6	142,591,664 (GRCm39)	missense	probably null	0.96
Z1177:Abcc9	UTSW	6	142,571,708 (GRCm39)	missense	probably benign	0.07
Z1177:Abcc9	UTSW	6	142,540,484 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02