Mutagenetix > Incidental Mutation

Incidental Mutation 'R7121:Akap10'

552024

Institutional Source

Beutler Lab

Gene Symbol

Akap10

Ensembl Gene

ENSMUSG00000047804

Gene Name

A kinase anchor protein 10

Synonyms

B130049N18Rik, D-AKAP2, 1500031L16Rik

MMRRC Submission

045210-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61762133-61821078 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 61777524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099710 (fasta)

Gene Model

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

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Abcc9	A	T	6: 142,634,853 (GRCm39)	L137*	probably null	Het
Alms1	T	A	6: 85,601,604 (GRCm39)	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,978,408 (GRCm39)	S127G	probably damaging	Het
Cadm1	G	A	9: 47,710,708 (GRCm39)	V204M	probably damaging	Het
Cbr3	T	A	16: 93,487,438 (GRCm39)	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,717,579 (GRCm39)	Y475N	probably damaging	Het
Ccdc33	A	T	9: 57,988,167 (GRCm39)	S144T	probably benign	Het
Ceacam5	C	A	7: 17,479,462 (GRCm39)	A193E	probably benign	Het
Chd2	T	C	7: 73,119,418 (GRCm39)	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,717,567 (GRCm39)	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,754,931 (GRCm39)	V112A	probably damaging	Het
Dbh	A	T	2: 27,058,318 (GRCm39)	D162V	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnm2	C	T	9: 21,385,862 (GRCm39)	T295I	probably benign	Het
Faiml	A	C	9: 99,116,446 (GRCm39)	D81E	probably benign	Het
Fer1l4	T	A	2: 155,886,477 (GRCm39)	Y720F	probably benign	Het
Fn1	A	C	1: 71,639,697 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,143,123 (GRCm39)	E397G	probably damaging	Het
Gm16506	T	C	14: 43,964,817 (GRCm39)	K42E		Het
Gpr179	A	G	11: 97,225,556 (GRCm39)	S2200P	probably benign	Het
Gusb	T	C	5: 130,028,884 (GRCm39)	D202G	probably benign	Het
Hspe1	A	G	1: 55,128,310 (GRCm39)	E35G	probably damaging	Het
Kptn	T	A	7: 15,857,023 (GRCm39)	H170Q	probably damaging	Het
Lama3	G	A	18: 12,595,839 (GRCm39)	A923T	probably benign	Het
Lmo7	T	A	14: 102,124,471 (GRCm39)	I432K	probably damaging	Het
Maneal	G	A	4: 124,750,905 (GRCm39)	P284S	probably benign	Het
Mrgbp	A	G	2: 180,224,682 (GRCm39)	T28A	probably benign	Het
Myo1h	T	C	5: 114,476,290 (GRCm39)	V493A		Het
Naxd	T	C	8: 11,556,745 (GRCm39)	L122P	probably damaging	Het
Neto2	T	C	8: 86,397,020 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,904,078 (GRCm39)	R7299*	probably null	Het
Odf2l	G	A	3: 144,845,581 (GRCm39)	V363I	possibly damaging	Het
Or2g25	T	C	17: 37,970,699 (GRCm39)	H175R	probably damaging	Het
Or2t35	A	G	14: 14,407,998 (GRCm38)	T257A	possibly damaging	Het
Or4c100	A	T	2: 88,356,170 (GRCm39)	D81V	probably damaging	Het
Or52a5b	A	T	7: 103,416,940 (GRCm39)	Y221*	probably null	Het
Or5b105	T	A	19: 13,080,537 (GRCm39)	I44F	probably benign	Het
Otud3	G	A	4: 138,624,067 (GRCm39)	P325L	probably benign	Het
Palb2	T	C	7: 121,724,057 (GRCm39)	N564S	probably benign	Het
Pcnt	A	G	10: 76,263,761 (GRCm39)	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,604,524 (GRCm39)	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,574,387 (GRCm39)	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,569,821 (GRCm39)	T56A	probably benign	Het
Psma2	T	A	13: 14,799,815 (GRCm39)	D186E	probably benign	Het
Psmd11	T	A	11: 80,329,099 (GRCm39)	Y72*	probably null	Het
Ror1	G	A	4: 100,160,142 (GRCm39)	D53N	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Sgca	G	A	11: 94,860,373 (GRCm39)	P255S	possibly damaging	Het
Skint11	A	T	4: 114,084,993 (GRCm39)	R167S	probably benign	Het
Slco5a1	A	G	1: 13,060,661 (GRCm39)	V20A	probably benign	Het
Snai2	T	C	16: 14,524,970 (GRCm39)	S159P	probably benign	Het
Taar2	T	G	10: 23,816,725 (GRCm39)	S88R	probably damaging	Het
Tacc3	T	A	5: 33,824,509 (GRCm39)	N378K	possibly damaging	Het
Tek	A	G	4: 94,699,647 (GRCm39)	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,233,944 (GRCm39)	S198*	probably null	Het
Tmbim4	T	A	10: 120,051,514 (GRCm39)	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,697,986 (GRCm39)	S85T	probably benign	Het
Ttc27	C	A	17: 75,054,710 (GRCm39)	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550 (GRCm39)	P636T	probably benign	Het
Ubr1	G	A	2: 120,705,979 (GRCm39)	L1495F	probably benign	Het
Vsig10	T	C	5: 117,481,967 (GRCm39)	S386P	probably damaging	Het
Wnk2	C	A	13: 49,300,653 (GRCm39)	R19L	probably benign	Het
Wsb2	T	C	5: 117,508,944 (GRCm39)	L126P	probably damaging	Het
Xylb	A	G	9: 119,211,358 (GRCm39)	I402V	probably benign	Het
Yrdc	A	G	4: 124,744,748 (GRCm39)	S61G	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zfp423	C	T	8: 88,507,489 (GRCm39)	G952R	probably damaging	Het
Zfp646	A	G	7: 127,478,944 (GRCm39)	T374A	possibly 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
R6753:Akap10	UTSW	11	61,777,603 (GRCm39)	missense	probably damaging	0.96
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'- CAACCGGGATTCTACTACTGCTG -3'
(R):5'- AATATGAGCTGTGGTTCCAGC -3'

Sequencing Primer
(F):5'- GCTGTGCTTTCTATAGTGGCAATAAC -3'
(R):5'- CCAGCTTTTGAGCTTTTGGTAAG -3'

Posted On

2019-05-15