Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Abcc9'

728909

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

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142587862-142702315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142633163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 927 (T927A)

Ref Sequence

ENSEMBL: ENSMUSP00000084805 (fasta)

Gene Model

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

AlphaFold

P70170

Predicted Effect

probably benign
Transcript: ENSMUST00000073173
AA Change: T892A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: T892A

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
AA Change: T927A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: T927A

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
AA Change: T927A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: T927A

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
AA Change: T914A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: T914A

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
AA Change: T892A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: T892A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Akna	A	T	4: 63,374,437	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758	V163G	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
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
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
R9600:Abcc9	UTSW	6	142590376	missense	possibly damaging	0.54
R9698:Abcc9	UTSW	6	142626031	missense	probably benign
R9761:Abcc9	UTSW	6	142599128	missense	possibly damaging	0.78
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'- CAGCTACACCTGTGTGACAC -3'
(R):5'- ATCATCCTGCATGTCTGAGTAC -3'

Sequencing Primer
(F):5'- GACACACTCACATATGTTTCTGGGAC -3'
(R):5'- CTGAGTACAGAAACTTTGTCCGC -3'

Posted On

2022-10-06