Mutagenetix > Incidental Mutation

Incidental Mutation 'R9732:Akap10'

731488

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase anchor protein 10

Synonyms

B130049N18Rik, D-AKAP2, 1500031L16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R9732 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61762133-61821078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61787545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 466 (C466S)

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: C387S

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

SMART Domains

Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: C387S

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: C466S

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

SMART Domains

Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: C466S

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: C466S

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

SMART Domains

Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: C466S

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: 99.8%
10x: 99.5%
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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,258,446 (GRCm39)	S1007T	probably benign	Het
Apol9b	C	T	15: 77,619,566 (GRCm39)	P121S	possibly damaging	Het
Atr	T	A	9: 95,743,438 (GRCm39)	Y26N	probably damaging	Het
Cadm2	G	A	16: 66,528,297 (GRCm39)	T346I	probably benign	Het
Capn7	T	C	14: 31,090,031 (GRCm39)	I628T	probably damaging	Het
Cfap43	A	G	19: 47,775,446 (GRCm39)	S609P	probably damaging	Het
Chst2	C	T	9: 95,287,951 (GRCm39)	G132S	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Coq10a	A	G	10: 128,199,516 (GRCm39)	F253L	probably benign	Het
Cyp2t4	C	T	7: 26,854,657 (GRCm39)	P46S	probably damaging	Het
Ddx54	T	C	5: 120,763,911 (GRCm39)		probably null	Het
Dip2a	T	A	10: 76,110,077 (GRCm39)	I1180L	probably benign	Het
Dpp8	G	T	9: 64,970,862 (GRCm39)		probably null	Het
Efr3a	T	A	15: 65,720,139 (GRCm39)	N378K	probably benign	Het
Etl4	C	T	2: 20,748,373 (GRCm39)	T237I	probably damaging	Het
Exo1	T	A	1: 175,727,065 (GRCm39)	S459T	probably benign	Het
Fam81b	G	A	13: 76,399,985 (GRCm39)	T91I	probably benign	Het
Fry	A	G	5: 150,328,758 (GRCm39)	E1297G	probably benign	Het
Gm11110	G	A	17: 57,410,382 (GRCm39)	L39F	unknown	Het
Gm3233	G	T	10: 77,595,147 (GRCm39)	Q124K	unknown	Het
Gm7145	C	G	1: 117,913,839 (GRCm39)	H240Q	probably benign	Het
Gnrh1	G	T	14: 67,985,316 (GRCm39)	R67L	possibly damaging	Het
Grip2	T	A	6: 91,761,686 (GRCm39)	E236V	probably damaging	Het
H3c10	A	T	13: 21,902,186 (GRCm39)	I120F	probably benign	Het
Hectd4	G	T	5: 121,392,254 (GRCm39)	E173*	probably null	Het
Hgf	T	A	5: 16,820,748 (GRCm39)	L632I	probably damaging	Het
Igsf11	T	C	16: 38,843,652 (GRCm39)	V255A	probably benign	Het
Jmjd4	G	T	11: 59,341,339 (GRCm39)		probably null	Het
Khdrbs3	C	A	15: 68,885,212 (GRCm39)	N71K	probably damaging	Het
Kif20b	A	G	19: 34,930,353 (GRCm39)	D1286G	probably benign	Het
Lpin3	T	A	2: 160,734,196 (GRCm39)	L27Q	probably damaging	Het
Macroh2a1	G	C	13: 56,243,976 (GRCm39)	F183L	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	T	A	14: 61,033,637 (GRCm39)	F184I	probably damaging	Het
Mst1	A	T	9: 107,959,425 (GRCm39)	D237V	possibly damaging	Het
Mycbp2	T	C	14: 103,448,749 (GRCm39)	D1803G	probably damaging	Het
Ncoa6	T	G	2: 155,244,636 (GRCm39)	K1978T	probably damaging	Het
Nkain4	G	A	2: 180,585,901 (GRCm39)	T54I	probably damaging	Het
Olig3	G	A	10: 19,233,151 (GRCm39)	A259T	probably benign	Het
Or5w14	T	C	2: 87,541,489 (GRCm39)	T254A	possibly damaging	Het
Pacs1	A	G	19: 5,184,997 (GRCm39)	W943R	probably damaging	Het
Pkp4	T	A	2: 59,138,797 (GRCm39)	L349Q	possibly damaging	Het
Polh	A	T	17: 46,498,997 (GRCm39)	H239Q	probably benign	Het
Ptprq	G	C	10: 107,412,767 (GRCm39)	C1777W	probably damaging	Het
Rhod	A	T	19: 4,476,740 (GRCm39)	V127E	probably damaging	Het
Rnf6	A	G	5: 146,152,931 (GRCm39)	S84P	probably benign	Het
Rundc3b	T	C	5: 8,562,406 (GRCm39)	T321A	probably damaging	Het
Rxfp2	G	A	5: 149,993,767 (GRCm39)	A620T	probably damaging	Het
Sacm1l	A	G	9: 123,381,863 (GRCm39)	E155G	probably benign	Het
Saxo5	C	T	8: 3,526,167 (GRCm39)	H107Y	possibly damaging	Het
Sdad1	A	T	5: 92,438,942 (GRCm39)	D471E	probably benign	Het
Sema6a	T	A	18: 47,381,925 (GRCm39)	N874I	probably damaging	Het
Serinc4	C	A	2: 121,283,631 (GRCm39)	W283L	possibly damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Slc24a3	A	T	2: 145,458,591 (GRCm39)	S524C	probably damaging	Het
Slc4a10	T	G	2: 62,135,086 (GRCm39)	S1042R	probably damaging	Het
Smg7	A	T	1: 152,736,212 (GRCm39)	V190D	probably damaging	Het
Sub1	T	A	15: 11,986,650 (GRCm39)	I66F	possibly damaging	Het
Svop	G	A	5: 114,201,142 (GRCm39)	P109S	probably damaging	Het
Synj1	G	A	16: 90,761,414 (GRCm39)	P684L	probably damaging	Het
Synm	A	G	7: 67,385,652 (GRCm39)	V670A	probably damaging	Het
Tep1	T	C	14: 51,088,162 (GRCm39)	I792V	probably benign	Het
Tex22	A	G	12: 113,052,196 (GRCm39)	T85A	possibly damaging	Het
Tmem151a	C	T	19: 5,131,937 (GRCm39)	S423N	probably damaging	Het
Tnks1bp1	T	A	2: 84,889,727 (GRCm39)	W685R	probably damaging	Het
Top3a	A	G	11: 60,640,391 (GRCm39)	F436L	probably benign	Het
Trim55	A	T	3: 19,716,039 (GRCm39)	I200F	probably damaging	Het
Trpv6	T	A	6: 41,603,862 (GRCm39)	R186*	probably null	Het
Ttc6	G	A	12: 57,775,335 (GRCm39)	C1677Y	probably benign	Het
Ttn	C	T	2: 76,769,206 (GRCm39)	V2831I	unknown	Het
Tyrp1	T	A	4: 80,758,930 (GRCm39)	S268T	possibly damaging	Het
Unc5d	C	T	8: 29,381,319 (GRCm39)		probably null	Het
Usb1	G	T	8: 96,065,375 (GRCm39)	V129L	probably damaging	Het
Usp22	G	A	11: 61,051,437 (GRCm39)	T302M	probably damaging	Het
Vmn1r210	C	A	13: 23,011,379 (GRCm39)	L302F	possibly damaging	Het
Zfp689	C	A	7: 127,044,283 (GRCm39)	E116*	probably null	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
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
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'- TCCCACAGTTCCCACAGTTG -3'
(R):5'- GTTTTCTAGAGGGTATGAGAATCAGC -3'

Sequencing Primer
(F):5'- CACAGTTCCCACAGTTGTTATAC -3'
(R):5'- GGTATGAGAATCAGCAAAAGGC -3'

Posted On

2022-11-14