Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Akap10'

629224

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase (PRKA) anchor protein 10

Synonyms

B130049N18Rik, 1500031L16Rik, D-AKAP2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R8079 (G1)

Quality Score

126.008

Status

Not validated

Chromosome

Chromosomal Location

61871307-61930252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61930054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 8 (P8L)

Ref Sequence

ENSEMBL: ENSMUSP00000099710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102650] [ENSMUST00000108710]

AlphaFold

O88845

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102650
AA Change: P8L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: P8L

Domain	Start	End	E-Value	Type
RGS	125	369	1.82e-30	SMART
RGS	379	505	9.62e-30	SMART
PDB:3TMH\|L	623	662	2e-18	PDB
Blast:S_TKc	636	661	1e-5	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000108710
AA Change: P8L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: P8L

Domain	Start	End	E-Value	Type
RGS	125	369	1.82e-30	SMART
RGS	379	505	9.62e-30	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. It has been reported that this protein is important for maintaining heart rate and myocardial contractility through its targeting of protein kinase A. In mouse, defects of this gene lead to cardiac arrhythmias and premature death. In humans, polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Ankle2	C	T	5: 110,231,316	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		probably benign	Het

Other mutations in Akap10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Akap10	APN	11	61915071	missense	possibly damaging	0.85
IGL00971:Akap10	APN	11	61904796	missense	possibly damaging	0.68
IGL01510:Akap10	APN	11	61878020	missense	possibly damaging	0.74
IGL02731:Akap10	APN	11	61893476	missense	possibly damaging	0.78
IGL03289:Akap10	APN	11	61877968	splice site	probably benign
IGL03294:Akap10	APN	11	61877353	missense	probably damaging	1.00
IGL03403:Akap10	APN	11	61915273	missense	probably benign	0.00
P4748:Akap10	UTSW	11	61873020	missense	possibly damaging	0.86
R0924:Akap10	UTSW	11	61904863	splice site	probably benign
R1324:Akap10	UTSW	11	61915021	splice site	probably null
R2117:Akap10	UTSW	11	61890303	missense	possibly damaging	0.73
R2243:Akap10	UTSW	11	61915501	missense	possibly damaging	0.56
R2402:Akap10	UTSW	11	61915222	missense	probably benign
R2567:Akap10	UTSW	11	61893349	intron	probably benign
R3745:Akap10	UTSW	11	61915305	missense	probably benign
R5124:Akap10	UTSW	11	61916189	missense	probably damaging	1.00
R5126:Akap10	UTSW	11	61916189	missense	probably damaging	1.00
R5180:Akap10	UTSW	11	61916189	missense	probably damaging	1.00
R5219:Akap10	UTSW	11	61922791	missense	probably benign
R5324:Akap10	UTSW	11	61916189	missense	probably damaging	1.00
R6753:Akap10	UTSW	11	61886777	missense	probably damaging	0.96
R7121:Akap10	UTSW	11	61886698	critical splice donor site	probably null
R7763:Akap10	UTSW	11	61915505	missense	probably damaging	1.00
R7867:Akap10	UTSW	11	61900446	missense	probably damaging	1.00
R7986:Akap10	UTSW	11	61930064	missense	probably damaging	1.00
R9321:Akap10	UTSW	11	61900409	missense	probably damaging	1.00
R9732:Akap10	UTSW	11	61896719	missense	probably damaging	1.00
Z1186:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1187:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1188:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1189:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1190:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1191:Akap10	UTSW	11	61915270	missense	probably benign	0.00
Z1192:Akap10	UTSW	11	61915270	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTTTTGGCCCAAAGCGAC -3'
(R):5'- AAGAGACGCTGTCATCCGAAG -3'

Sequencing Primer
(F):5'- TTTGGCCCAAAGCGACAATGC -3'
(R):5'- TGTCATCCGAAGCCTCCAG -3'

Posted On

2020-06-30