Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Akap10'

530909

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase anchor protein 10

Synonyms

B130049N18Rik, D-AKAP2, 1500031L16Rik

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61762133-61821078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61777603 bp (GRCm39)

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]

AlphaFold

O88845

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: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably damaging	Het

Other mutations in Akap10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Akap10	APN	11	61,805,897 (GRCm39)	missense	possibly damaging	0.85
IGL00971:Akap10	APN	11	61,795,622 (GRCm39)	missense	possibly damaging	0.68
IGL01510:Akap10	APN	11	61,768,846 (GRCm39)	missense	possibly damaging	0.74
IGL02731:Akap10	APN	11	61,784,302 (GRCm39)	missense	possibly damaging	0.78
IGL03289:Akap10	APN	11	61,768,794 (GRCm39)	splice site	probably benign
IGL03294:Akap10	APN	11	61,768,179 (GRCm39)	missense	probably damaging	1.00
IGL03403:Akap10	APN	11	61,806,099 (GRCm39)	missense	probably benign	0.00
P4748:Akap10	UTSW	11	61,763,846 (GRCm39)	missense	possibly damaging	0.86
R0924:Akap10	UTSW	11	61,795,689 (GRCm39)	splice site	probably benign
R1324:Akap10	UTSW	11	61,805,847 (GRCm39)	splice site	probably null
R2117:Akap10	UTSW	11	61,781,129 (GRCm39)	missense	possibly damaging	0.73
R2243:Akap10	UTSW	11	61,806,327 (GRCm39)	missense	possibly damaging	0.56
R2402:Akap10	UTSW	11	61,806,048 (GRCm39)	missense	probably benign
R2567:Akap10	UTSW	11	61,784,175 (GRCm39)	intron	probably benign
R3745:Akap10	UTSW	11	61,806,131 (GRCm39)	missense	probably benign
R5124:Akap10	UTSW	11	61,807,015 (GRCm39)	missense	probably damaging	1.00
R5126:Akap10	UTSW	11	61,807,015 (GRCm39)	missense	probably damaging	1.00
R5180:Akap10	UTSW	11	61,807,015 (GRCm39)	missense	probably damaging	1.00
R5219:Akap10	UTSW	11	61,813,617 (GRCm39)	missense	probably benign
R5324:Akap10	UTSW	11	61,807,015 (GRCm39)	missense	probably damaging	1.00
R7121:Akap10	UTSW	11	61,777,524 (GRCm39)	critical splice donor site	probably null
R7763:Akap10	UTSW	11	61,806,331 (GRCm39)	missense	probably damaging	1.00
R7867:Akap10	UTSW	11	61,791,272 (GRCm39)	missense	probably damaging	1.00
R7986:Akap10	UTSW	11	61,820,890 (GRCm39)	missense	probably damaging	1.00
R8079:Akap10	UTSW	11	61,820,880 (GRCm39)	missense	possibly damaging	0.93
R9321:Akap10	UTSW	11	61,791,235 (GRCm39)	missense	probably damaging	1.00
R9732:Akap10	UTSW	11	61,787,545 (GRCm39)	missense	probably damaging	1.00
Z1186:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1187:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1188:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1189:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1190:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1191:Akap10	UTSW	11	61,806,096 (GRCm39)	missense	probably benign	0.00
Z1192:Akap10	UTSW	11	61,806,096 (GRCm39)	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