Mutagenetix > Incidental Mutation

Incidental Mutation 'R2567:Akap10'

476655

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase anchor protein 10

Synonyms

B130049N18Rik, D-AKAP2, 1500031L16Rik

MMRRC Submission

040426-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61762133-61821078 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 61784175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000102650

SMART Domains

Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804

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

unknown
Transcript: ENSMUST00000108710
AA Change: W558R

SMART Domains

Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: W558R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,475 (GRCm39)		probably benign	Het
Aebp1	A	G	11: 5,820,251 (GRCm39)	D409G	probably benign	Het
Akap6	G	T	12: 52,985,156 (GRCm39)	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,602,921 (GRCm39)	K29E	possibly damaging	Het
Atm	T	A	9: 53,368,770 (GRCm39)	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,624,384 (GRCm39)	D944V	probably damaging	Het
Baz2b	A	T	2: 59,744,255 (GRCm39)	S1417T	possibly damaging	Het
Cacna1a	T	A	8: 85,276,354 (GRCm39)	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,764,330 (GRCm39)		probably null	Het
Cd209d	T	A	8: 3,926,327 (GRCm39)	N96I	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk4	T	G	10: 126,900,145 (GRCm39)	V14G	probably benign	Het
Chrna10	C	A	7: 101,761,276 (GRCm39)	M438I	probably benign	Het
Clec10a	T	C	11: 70,060,358 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,991,730 (GRCm39)	V40A	probably benign	Het
Creb3l3	T	C	10: 80,921,883 (GRCm39)	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,283,167 (GRCm39)		probably null	Het
Cygb	T	C	11: 116,540,692 (GRCm39)	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,777,489 (GRCm39)	K120E	probably damaging	Het
Dnah3	T	A	7: 119,551,920 (GRCm39)	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,029,775 (GRCm39)	R245L	possibly damaging	Het
Dock1	T	G	7: 134,747,213 (GRCm39)	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,412,736 (GRCm39)	I266R	probably damaging	Het
Fhl4	T	C	10: 84,934,644 (GRCm39)	I46V	possibly damaging	Het
Fn1	G	A	1: 71,636,895 (GRCm39)	Q1995*	probably null	Het
Foxl3	A	G	5: 138,805,940 (GRCm39)	S36G	probably null	Het
Foxo1	T	A	3: 52,176,755 (GRCm39)	L178H	probably damaging	Het
Galnt18	C	T	7: 111,153,823 (GRCm39)	R267H	probably damaging	Het
Gm1110	T	C	9: 26,831,992 (GRCm39)	D53G	probably benign	Het
Gm7104	A	T	12: 88,252,242 (GRCm39)		noncoding transcript	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Haus6	C	A	4: 86,504,122 (GRCm39)	E501*	probably null	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Kdelr3	A	G	15: 79,407,032 (GRCm39)	I38V	probably benign	Het
Lamb1	A	G	12: 31,319,054 (GRCm39)		probably null	Het
Larp7-ps	T	C	4: 92,079,560 (GRCm39)	E87G	probably benign	Het
Mgat4c	T	A	10: 102,214,123 (GRCm39)	F35L	probably benign	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Mrpl2	A	G	17: 46,958,427 (GRCm39)	T70A	probably benign	Het
Naa11	C	T	5: 97,539,618 (GRCm39)	G180D	probably benign	Het
Npy6r	T	C	18: 44,408,888 (GRCm39)	V103A	possibly damaging	Het
Nup188	A	T	2: 30,231,794 (GRCm39)	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,474,311 (GRCm39)	S336R	possibly damaging	Het
Or8b12c	T	A	9: 37,715,509 (GRCm39)	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,191,744 (GRCm39)	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,415,149 (GRCm39)	N659Y	probably damaging	Het
Perm1	T	C	4: 156,301,575 (GRCm39)	S40P	probably damaging	Het
Phldb1	T	C	9: 44,637,322 (GRCm39)	T114A	probably damaging	Het
Pirt	C	T	11: 66,816,985 (GRCm39)	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,716,995 (GRCm39)	R360G	probably benign	Het
Rhpn2	G	A	7: 35,080,957 (GRCm39)		probably null	Het
Rpusd2	T	A	2: 118,867,556 (GRCm39)	I268N	probably damaging	Het
Sds	G	T	5: 120,619,646 (GRCm39)	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,802,876 (GRCm39)	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,413,008 (GRCm39)	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,597,355 (GRCm39)	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,480,459 (GRCm39)	C70R	probably damaging	Het
Smoc1	G	A	12: 81,214,364 (GRCm39)	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,232,954 (GRCm39)	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,939,334 (GRCm39)	D590V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm2	C	T	10: 77,777,008 (GRCm39)	V430M	probably damaging	Het
Ttn	T	C	2: 76,574,672 (GRCm39)	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 84,883,803 (GRCm39)	I101V	probably benign	Het
Xrcc4	A	T	13: 90,210,261 (GRCm39)	M61K	probably damaging	Het
Zfp648	A	G	1: 154,080,695 (GRCm39)	T285A	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
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
R6753:Akap10	UTSW	11	61,777,603 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2017-05-11