Mutagenetix > Incidental Mutation

Incidental Mutation 'R8846:Abcc9'

674704

Institutional Source

Beutler Lab

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: 0.096) question?

Stock #

R8846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142533588-142648041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142551610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1198 (I1198F)

Ref Sequence

ENSEMBL: ENSMUSP00000144779 (fasta)

Gene Model

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

AlphaFold

P70170

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073173
AA Change: I1198F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: I1198F

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: I1233F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: I1233F

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: I1233F

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: I1233F

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: I1220F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: I1220F

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

possibly damaging
Transcript: ENSMUST00000205202
AA Change: I1198F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: I1198F

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: 99.4%
20x: 97.7%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,637,025 (GRCm39)		probably null	Het
Adprh	T	C	16: 38,267,775 (GRCm39)	H170R	probably damaging	Het
Arhgef10	T	C	8: 15,025,956 (GRCm39)	V820A	probably benign	Het
B3galt1	A	G	2: 67,948,717 (GRCm39)	D144G	probably benign	Het
Ccdc88a	C	T	11: 29,414,185 (GRCm39)	R908C	probably damaging	Het
Ccs	A	G	19: 4,883,480 (GRCm39)	L106P	probably damaging	Het
Dock10	T	C	1: 80,545,786 (GRCm39)	D820G	possibly damaging	Het
Gda	A	G	19: 21,389,889 (GRCm39)	I298T	probably damaging	Het
Gpr84	A	T	15: 103,218,037 (GRCm39)	H13Q	possibly damaging	Het
Igdcc4	T	C	9: 65,037,898 (GRCm39)	S760P	probably benign	Het
Ighv1-53	A	C	12: 115,122,165 (GRCm39)	I70S	probably damaging	Het
Itpr3	T	A	17: 27,330,996 (GRCm39)	I1768N	probably damaging	Het
Kctd13	C	A	7: 126,544,191 (GRCm39)	D296E	probably benign	Het
Krt76	A	G	15: 101,795,772 (GRCm39)	I466T	probably damaging	Het
Lamb1	T	C	12: 31,379,388 (GRCm39)	Y1801H	possibly damaging	Het
Mapk10	A	G	5: 103,144,521 (GRCm39)	F129L	probably damaging	Het
Myo5b	G	A	18: 74,841,043 (GRCm39)	E975K	probably benign	Het
Nrtn	C	T	17: 57,058,728 (GRCm39)	R91H	possibly damaging	Het
Olfml2a	A	T	2: 38,850,255 (GRCm39)	Y657F	probably damaging	Het
Or1j21	T	A	2: 36,683,689 (GRCm39)	V147E	probably benign	Het
Or4d10c	T	C	19: 12,065,433 (GRCm39)	H241R	probably damaging	Het
Pfkfb2	T	C	1: 130,625,648 (GRCm39)	T511A	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,410,358 (GRCm39)	G2622*	probably null	Het
Ppp6r3	A	T	19: 3,564,654 (GRCm39)	D206E	probably damaging	Het
Ptpn3	A	G	4: 57,205,020 (GRCm39)	Y714H	probably damaging	Het
Rfng	C	A	11: 120,674,972 (GRCm39)	R6L	unknown	Het
Scrt1	A	T	15: 76,405,808 (GRCm39)	V33E	possibly damaging	Het
Siglecg	A	T	7: 43,061,942 (GRCm39)	I563F	probably benign	Het
Slc1a6	G	A	10: 78,637,781 (GRCm39)	A436T	probably damaging	Het
Slc38a9	C	A	13: 112,859,814 (GRCm39)	S416*	probably null	Het
Sptbn1	A	G	11: 30,075,009 (GRCm39)	S1288P	possibly damaging	Het
Tbce	A	G	13: 14,194,285 (GRCm39)		probably null	Het
Tdpoz8	A	T	3: 92,981,770 (GRCm39)	I189F	possibly damaging	Het
Topors	A	G	4: 40,262,952 (GRCm39)	F111L	probably damaging	Het
Vmn1r11	T	C	6: 57,114,807 (GRCm39)	M157T	probably benign	Het
Wdfy4	A	G	14: 32,867,105 (GRCm39)	L459P		Het
Zfp738	T	C	13: 67,818,155 (GRCm39)	N612S	probably benign	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
IGL03035:Abcc9	APN	6	142,573,319 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGCTGTCCTAAAACGTTAGC -3'
(R):5'- AACCTGACTGGACACTCAAG -3'

Sequencing Primer
(F):5'- GCTGTCCTAAAACGTTAGCTTTAG -3'
(R):5'- CTGACTGGACACTCAAGCGATG -3'

Posted On

2021-07-15