Mutagenetix > Incidental Mutations

Incidental Mutation 'R6564:Abcc9'

522333

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: 0.092) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142587862-142702315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142603108 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1318 (Y1318C)

Ref Sequence

ENSEMBL: ENSMUSP00000098390 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000073173
AA Change: Y1283C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: Y1283C

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: Y1318C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: Y1318C

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: Y1318C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: Y1318C

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: Y1305C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: Y1305C

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: Y1283C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: Y1283C

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

0.9600

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,486,077		probably null	Het
4931429L15Rik	C	A	9: 46,306,904	D179Y	probably damaging	Het
Abca1	A	T	4: 53,034,031	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,309,850	E834V	possibly damaging	Het
Adam15	C	A	3: 89,347,212	R121L	possibly damaging	Het
Afdn	T	A	17: 13,896,089	M1588K	probably benign	Het
Akap9	T	C	5: 4,028,491	S1849P	probably damaging	Het
Bag6	T	C	17: 35,140,371	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,260,178	V65A	probably benign	Het
Chn1	T	A	2: 73,618,041	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,928,245	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,890,158	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,745	A2759S	probably benign	Het
Doxl2	T	C	6: 48,977,575	V549A	probably benign	Het
Dtx1	T	A	5: 120,695,017	T119S	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ezr	C	T	17: 6,742,847	V268M	probably damaging	Het
Fbxl15	T	C	19: 46,329,338	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,646,266	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,786,504	T200A	possibly damaging	Het
H2afx	T	C	9: 44,334,912	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,595,296	M1R	probably null	Het
Kcnt1	A	C	2: 25,911,051	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,177,439	A32S	probably benign	Het
Klkb1	A	T	8: 45,273,634	V444E	probably damaging	Het
Mccc1	T	C	3: 35,976,676	T414A	probably damaging	Het
Miga1	A	C	3: 152,285,322	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,184	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,123,572	L284P	probably damaging	Het
Olfr1411	T	C	1: 92,596,563	S15P	probably benign	Het
Olfr853	G	A	9: 19,537,210	T240I	possibly damaging	Het
Pbld1	T	A	10: 63,072,027	I224N	possibly damaging	Het
Pih1d1	A	T	7: 45,159,819	R276W	probably damaging	Het
Plekhg1	G	T	10: 3,964,153	V1292L	probably damaging	Het
Prex2	A	G	1: 11,101,061		probably null	Het
Rbm6	T	C	9: 107,833,498	Y498C	probably damaging	Het
Reps1	T	A	10: 18,122,392		probably null	Het
Ruvbl1	T	A	6: 88,479,226	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,280,060	F616V	possibly damaging	Het
Spag5	A	T	11: 78,315,575	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,356	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,732,024	F430L	probably damaging	Het
Svs3a	T	A	2: 164,289,350	I21K	probably damaging	Het
Tet3	T	A	6: 83,386,070	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,837,695	K360N	probably benign	Het
Tmem45b	C	G	9: 31,428,005	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,158,287	E40G	probably damaging	Het
Traj40	T	C	14: 54,177,942		probably benign	Het
Trpm5	A	G	7: 143,072,770	S125P	probably damaging	Het
Ttc3	G	T	16: 94,442,611	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,120,889	I74T	probably damaging	Het
Vav2	A	T	2: 27,279,185		probably null	Het
Wbp4	G	T	14: 79,467,428	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,248,042	S821P	probably benign	Het
Wsb2	A	T	5: 117,370,560		probably null	Het
Zic5	A	G	14: 122,459,421	L594P	unknown	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
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
U15987:Abcc9	UTSW	6	142639575	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATGTGAGCCTGGACAC -3'
(R):5'- ACCACAGTTTGATTCGGAACTAC -3'

Sequencing Primer
(F):5'- GCAATCGGATCGTGTGAA -3'
(R):5'- GTTACTCCTGGACATTGTAT -3'

Posted On

2018-06-06