Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Akap10'

530909

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

Is this an essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61871307-61930252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61886777 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 586 (M586K)

Ref Sequence

ENSEMBL: ENSMUSP00000099710 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058173

SMART Domains

Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804

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: M586K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: M586K

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 benign
Transcript: ENSMUST00000108710

SMART Domains

Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804

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: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably 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
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
R8079:Akap10	UTSW	11	61930054	missense	possibly damaging	0.93
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'- GGTAGTTACAGCCACTTTAAACC -3'
(R):5'- AACTACACTTTCATTCTGGACTTGC -3'

Sequencing Primer
(F):5'- AGCCACTTTAAACCTTAAATAGTCC -3'
(R):5'- CACCTAGTGTTATGTTTCATAAGCC -3'

Posted On

2018-08-01