Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Akap10'

598050

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase (PRKA) anchor protein 10

Synonyms

B130049N18Rik, 1500031L16Rik, D-AKAP2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61871307-61930252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 61915505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 132 (D132E)

Ref Sequence

ENSEMBL: ENSMUSP00000099710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]

AlphaFold

O88845

Predicted Effect

probably damaging
Transcript: ENSMUST00000058173
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: D53E

Domain	Start	End	E-Value	Type
RGS	46	290	1.82e-30	SMART
RGS	300	426	9.62e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102650
AA Change: D132E

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

SMART Domains

Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: D132E

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: D132E

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

SMART Domains

Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: D132E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,514,602	W899R	probably damaging	Het
Abca5	A	T	11: 110,272,497	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,527,368	D25V	probably damaging	Het
Angptl2	G	T	2: 33,242,382	E334*	probably null	Het
Aprt	T	C	8: 122,574,935	R165G	probably benign	Het
B020004J07Rik	T	C	4: 101,837,141	I182V	possibly damaging	Het
Bmp1	A	G	14: 70,492,084	F549S	probably damaging	Het
Capzb	C	T	4: 139,280,553	T215I	probably benign	Het
Car14	C	T	3: 95,904,372	M1I	probably null	Het
Ccdc148	T	A	2: 58,823,636	Q501L	probably benign	Het
Ccdc32	G	A	2: 119,027,347	T12I	probably damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,573,834	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,312,577	S2670R	probably damaging	Het
Cdh8	T	A	8: 99,279,674	K94*	probably null	Het
Cdhr2	A	T	13: 54,717,692	Y193F	probably damaging	Het
Cdon	T	A	9: 35,454,415	Y153*	probably null	Het
Chd1	G	A	17: 15,733,041	G413R	probably damaging	Het
Cit	A	T	5: 115,987,001	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,964,340	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,645	D253E	probably damaging	Het
Cyhr1	A	T	15: 76,658,547	Y138N	probably damaging	Het
Cyp2c40	T	A	19: 39,807,168	N189I	possibly damaging	Het
Daam2	G	T	17: 49,490,022	A245E	probably benign	Het
Dennd5b	A	G	6: 149,068,658	F121S	probably damaging	Het
Dgkd	A	G	1: 87,926,949	T658A	probably benign	Het
Dmwd	T	A	7: 19,080,340	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,313,855	Y1939F	probably damaging	Het
Dock5	T	C	14: 67,821,327	T512A	probably damaging	Het
Dopey2	T	A	16: 93,755,514	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,618,529	H207R	probably damaging	Het
Egfr	T	C	11: 16,891,266	V719A	probably damaging	Het
Ep300	A	T	15: 81,586,583		probably benign	Het
Epha4	A	G	1: 77,390,031		probably null	Het
Erc2	T	G	14: 27,876,204		probably null	Het
Ergic1	A	T	17: 26,638,827	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,326,633	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478	T1841S	probably benign	Het
Foxc1	G	A	13: 31,808,028	S274N	probably benign	Het
Fto	C	T	8: 91,409,443	T115M	probably damaging	Het
Gm10228	C	G	16: 89,041,299	C39S	unknown	Het
Gm7334	T	C	17: 50,698,715	F10L	possibly damaging	Het
Hfm1	A	G	5: 106,881,861	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,159,461	S1726T	probably benign	Het
Htt	G	T	5: 34,852,190	C1505F	probably damaging	Het
Hydin	T	C	8: 110,505,843	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,642,879	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,399,293	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,153,207	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,910,579	S59P	probably benign	Het
Iglv1	A	G	16: 19,085,489		probably benign	Het
Ipo7	T	A	7: 110,052,799	D928E	possibly damaging	Het
Itgae	G	T	11: 73,123,269		probably null	Het
Kbtbd12	T	A	6: 88,618,197	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,300,006	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,516,383	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,491,046	Y10F	probably benign	Het
Lrp2	A	T	2: 69,503,388	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,708,640	D355E	probably benign	Het
Mri1	T	C	8: 84,251,028	H226R		Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Muc4	T	A	16: 32,753,311	L1063H	probably benign	Het
Mzf1	A	T	7: 13,044,091	I541N	probably damaging	Het
Nasp	T	A	4: 116,612,033	E116D	probably benign	Het
Nlrp10	T	A	7: 108,925,826	E149V	probably damaging	Het
Notch4	G	A	17: 34,582,418	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,720,698	I147L	unknown	Het
Ogdh	A	G	11: 6,338,558	M223V	probably benign	Het
Olfr1391	G	T	11: 49,327,671	A87S	probably benign	Het
Olfr444	T	C	6: 42,955,789	I97T	probably benign	Het
Olfr732	A	T	14: 50,281,488	I255N	probably damaging	Het
Olfr792	G	T	10: 129,541,455	R306L	probably benign	Het
P3h3	T	C	6: 124,854,432	Q330R	probably benign	Het
Pcdhb10	A	G	18: 37,411,882	T4A	not run	Het
Pkd2l2	A	T	18: 34,433,287		probably null	Het
Plekhb1	C	T	7: 100,645,663	V168I	probably benign	Het
Plxna4	C	T	6: 32,223,980	R753H	probably damaging	Het
Prex1	G	C	2: 166,713,709	P4A	unknown	Het
Ptgdr	A	G	14: 44,859,078	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,757,955	I519F	probably benign	Het
Rbpms	A	G	8: 33,789,453	I170T	probably benign	Het
Sec31b	T	A	19: 44,523,835		probably null	Het
Skint11	A	T	4: 114,227,708	Y138F	probably benign	Het
Slain2	A	G	5: 72,948,610	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,676,224	C503*	probably null	Het
Slfn3	A	T	11: 83,214,788	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,444,765	Y443H	probably damaging	Het
Sorl1	T	A	9: 42,043,909	E683D	probably damaging	Het
Sos1	T	A	17: 80,413,713	I893L	probably benign	Het
St8sia2	T	A	7: 73,943,321	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570	S212*	probably null	Het
Syne3	C	T	12: 104,997,495		probably benign	Het
Tenm4	T	A	7: 96,895,692	I2342N	probably benign	Het
Tescl	T	A	7: 24,333,263	E212D	probably benign	Het
Trip11	A	G	12: 101,844,855	S1879P	probably benign	Het
Ube2c	A	T	2: 164,771,291		probably null	Het
Umodl1	T	A	17: 30,986,456	I675N	probably benign	Het
Vipr2	T	C	12: 116,122,718	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,620,669	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,410,913	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,603,118	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 85,005,701	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,080,535	F600L	probably benign	Het
Vps13a	T	A	19: 16,746,000	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,741,162	D747A	possibly damaging	Het
Xdh	G	A	17: 73,934,834	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,998,348		probably null	Het
Zfp362	T	A	4: 128,787,031	H180L	probably benign	Het
Zfp560	A	T	9: 20,347,323	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,172,664	Q569L	probably benign	Het
Zfp93	T	A	7: 24,275,218	D209E	possibly damaging	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
R7867:Akap10	UTSW	11	61900446	missense	probably damaging	1.00
R7986:Akap10	UTSW	11	61930064	missense	probably damaging	1.00
R8079:Akap10	UTSW	11	61930054	missense	possibly damaging	0.93
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'- GAAGATGCTGGAGTCTCATGTC -3'
(R):5'- ATGAGTGAAGCCTGTTGTGGAC -3'

Sequencing Primer
(F):5'- CTTTTAGATGGAGAGACAGGCTC -3'
(R):5'- GACAGCAGTCAGTTTAGAAGTTCTG -3'

Posted On

2019-11-26