Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02210:Abcc9'

284680

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc9

Ensembl Gene

ENSMUSG00000030249

Gene Name

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

Synonyms

SUR2B, Sur2, SUR2A

Accession Numbers

Ncbi RefSeq: NM_001044720.1; MGI: 1352630

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

142587862-142702315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142687371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 215 (F215S)

Ref Sequence

ENSEMBL: ENSMUSP00000144779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000204870] [ENSMUST00000205202]

AlphaFold

P70170

Predicted Effect

probably damaging
Transcript: ENSMUST00000073173
AA Change: F215S

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

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: F215S

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: F215S

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

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: F215S

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: F215S

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

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: F215S

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: F215S

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

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: F215S

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: ENSMUST00000204870

SMART Domains

Protein: ENSMUSP00000145489
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205202
AA Change: F215S

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

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: F215S

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	T	2: 48,898,526	H422L	probably damaging	Het
Adcy6	T	C	15: 98,594,971	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,597,673	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,118,314	D86G	probably damaging	Het
Anpep	T	A	7: 79,826,904	Y29F	probably benign	Het
Appl1	T	C	14: 26,925,952		probably benign	Het
Arrdc5	T	C	17: 56,300,026	D73G	probably damaging	Het
Atp12a	T	A	14: 56,371,744	Y142*	probably null	Het
Clec4a3	T	A	6: 122,954,108	I52N	probably damaging	Het
Cmya5	G	A	13: 93,092,734	P1949S	probably benign	Het
Crybb2	T	A	5: 113,058,387	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,404,049	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,735,977	F337S	probably damaging	Het
F5	T	C	1: 164,190,141	S596P	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Gm5070	T	G	3: 95,410,625		noncoding transcript	Het
Hps5	T	C	7: 46,786,570	Y184C	probably benign	Het
Letmd1	T	C	15: 100,469,247		probably null	Het
Lipo5	A	T	19: 33,467,877	N97K	unknown	Het
Mis18bp1	A	T	12: 65,136,831	Y922*	probably null	Het
Mob3c	C	A	4: 115,833,755	H181N	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Nav3	T	C	10: 109,766,990	T1233A	probably benign	Het
Olfr1120	T	A	2: 87,358,003	D186E	probably damaging	Het
Olfr361	G	T	2: 37,085,619	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,389,219	E1817G	possibly damaging	Het
Pdzd3	T	G	9: 44,248,317	T461P	probably benign	Het
Phc3	A	G	3: 30,936,709	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,223,649	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,483,474		probably benign	Het
Slc29a4	T	C	5: 142,718,779	Y359H	probably damaging	Het
Sspo	T	C	6: 48,500,492	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,396,309	L280Q	probably damaging	Het
Stap1	G	A	5: 86,078,061		probably null	Het
Szt2	A	G	4: 118,389,823	V865A	possibly damaging	Het
Tmem246	A	G	4: 49,586,686	Y161H	probably benign	Het
Tnr	T	A	1: 159,852,101	V215D	probably benign	Het
Trpm1	T	C	7: 64,210,865	L288P	probably damaging	Het
Ttll5	T	A	12: 85,912,545		probably benign	Het
Usp8	T	C	2: 126,718,056		probably benign	Het
Uxs1	T	C	1: 43,750,286	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,090,869	E497G	probably damaging	Het
Xdh	T	C	17: 73,943,895	K21E	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
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
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
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
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

Posted On

2015-04-16