Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Akap6'

701108

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase (PRKA) anchor protein 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52699383-53155599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53141252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1816 (S1816R)

Ref Sequence

ENSEMBL: ENSMUSP00000093406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095737] [ENSMUST00000219786]

AlphaFold

E9Q9K8

Predicted Effect

probably benign
Transcript: ENSMUST00000095737
AA Change: S1816R

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: S1816R

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
Blast:SPEC	66	168	2e-50	BLAST
low complexity region	441	455	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC
low complexity region	569	587	N/A	INTRINSIC
low complexity region	640	651	N/A	INTRINSIC
low complexity region	694	708	N/A	INTRINSIC
SPEC	779	880	1.06e-1	SMART
SPEC	959	1057	1.45e0	SMART
SPEC	1078	1185	2.56e-2	SMART
low complexity region	1316	1332	N/A	INTRINSIC
low complexity region	1555	1568	N/A	INTRINSIC
low complexity region	1610	1622	N/A	INTRINSIC
low complexity region	1683	1698	N/A	INTRINSIC
low complexity region	1737	1781	N/A	INTRINSIC
low complexity region	1899	1910	N/A	INTRINSIC
low complexity region	2019	2031	N/A	INTRINSIC
low complexity region	2104	2115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219786

Coding Region Coverage

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

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	A	T	14: 26,927,753	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,457,067	I732F	possibly damaging	Het
Capg	T	A	6: 72,561,087	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333	F38L	probably benign	Het
Cep295	T	A	9: 15,332,309	N1617I	probably benign	Het
Cep57	C	T	9: 13,826,908		probably benign	Het
Cfap46	A	T	7: 139,615,349		probably benign	Het
Csnk1g2	C	A	10: 80,639,814	A405E	probably damaging	Het
Dock7	A	G	4: 98,969,634	V1481A	unknown	Het
Exoc2	T	C	13: 30,925,795	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gad2	A	G	2: 22,635,041	E279G	possibly damaging	Het
Gria1	A	G	11: 57,238,062	Y454C	probably benign	Het
Grik3	C	T	4: 125,707,897	R856C	probably benign	Het
Hdac4	C	A	1: 91,972,789	R622I	probably damaging	Het
Hdac4	T	C	1: 91,972,790	R622G	probably benign	Het
Htt	T	C	5: 34,898,932		probably benign	Het
Idh1	A	G	1: 65,168,497		probably null	Het
Igf1r	A	G	7: 68,212,027	S1112G	probably benign	Het
Impg2	A	T	16: 56,231,460	S242C	probably damaging	Het
Itgb1	T	A	8: 128,707,106	S34T	probably benign	Het
Kcnh8	A	G	17: 52,898,514	I546V	probably damaging	Het
Klrd1	T	G	6: 129,591,832	M1R	probably null	Het
Krtap16-1	A	T	11: 99,985,818	C253*	probably null	Het
Mapk7	A	G	11: 61,493,709	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,383,262	N74D	probably benign	Het
Myd88	A	T	9: 119,339,707	S85T	probably benign	Het
Myo1c	G	T	11: 75,650,611		probably benign	Het
Nnt	T	A	13: 119,357,524	N674Y	unknown	Het
Nrcam	A	G	12: 44,573,824	Y878C	probably damaging	Het
Obscn	T	C	11: 59,132,566	T662A	probably benign	Het
Olfr1090	A	G	2: 86,753,938	S267P	possibly damaging	Het
Olfr115	T	C	17: 37,610,517	Q78R	probably benign	Het
Olfr615	A	G	7: 103,560,575	S33G	probably benign	Het
Olfr724	A	G	14: 49,960,424	V216A	probably benign	Het
Pappa2	C	A	1: 158,936,193	V583L	probably damaging	Het
Parp1	T	G	1: 180,588,115	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,486,936	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Prrc1	C	G	18: 57,363,199	S74W	possibly damaging	Het
Rag2	G	A	2: 101,630,074	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,735,187	E126G	probably damaging	Het
Skiv2l	G	A	17: 34,845,222	T496M	probably benign	Het
Slc17a1	C	A	13: 23,880,449	F329L	probably benign	Het
Slc52a3	G	A	2: 152,004,592	V158I	probably benign	Het
Slf1	T	A	13: 77,125,456	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,234,750		probably null	Het
Tmem125	A	T	4: 118,541,892	V114E	probably damaging	Het
Ube2f	A	T	1: 91,254,258		probably benign	Het
Zdhhc19	T	A	16: 32,497,174	F30I	probably damaging	Het
Zfp236	T	C	18: 82,643,925		probably benign	Het
Zfp462	C	A	4: 55,009,595	Y520*	probably null	Het
Zzz3	A	G	3: 152,428,283	D326G	probably damaging	Het

Other mutations in Akap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Akap6	APN	12	53,140,980 (GRCm38)	missense	possibly damaging	0.79
IGL00505:Akap6	APN	12	52,887,102 (GRCm38)	missense	possibly damaging	0.92
IGL01134:Akap6	APN	12	52,937,217 (GRCm38)	missense	probably damaging	0.96
IGL01458:Akap6	APN	12	52,886,818 (GRCm38)	nonsense	probably null
IGL01589:Akap6	APN	12	53,139,664 (GRCm38)	missense	probably damaging	1.00
IGL01592:Akap6	APN	12	53,142,142 (GRCm38)	missense	probably damaging	1.00
IGL01738:Akap6	APN	12	52,886,817 (GRCm38)	missense	probably damaging	0.99
IGL01867:Akap6	APN	12	52,888,008 (GRCm38)	missense	probably damaging	1.00
IGL02025:Akap6	APN	12	53,140,335 (GRCm38)	missense	probably benign
IGL02041:Akap6	APN	12	53,140,653 (GRCm38)	missense	probably damaging	1.00
IGL02058:Akap6	APN	12	53,140,555 (GRCm38)	missense	probably damaging	1.00
IGL02194:Akap6	APN	12	52,886,823 (GRCm38)	missense	probably benign	0.00
IGL02226:Akap6	APN	12	53,010,467 (GRCm38)	splice site	probably benign
IGL02323:Akap6	APN	12	53,140,429 (GRCm38)	missense	probably benign	0.00
IGL02449:Akap6	APN	12	53,140,188 (GRCm38)	missense	probably damaging	1.00
IGL02475:Akap6	APN	12	53,139,494 (GRCm38)	missense	probably benign	0.03
IGL02546:Akap6	APN	12	52,880,738 (GRCm38)	missense	probably damaging	1.00
IGL02547:Akap6	APN	12	53,140,696 (GRCm38)	missense	probably damaging	1.00
IGL02588:Akap6	APN	12	52,886,499 (GRCm38)	nonsense	probably null
IGL02608:Akap6	APN	12	53,010,606 (GRCm38)	missense	probably benign	0.39
IGL02884:Akap6	APN	12	52,886,622 (GRCm38)	missense	probably benign	0.00
IGL02945:Akap6	APN	12	52,880,837 (GRCm38)	missense	probably damaging	1.00
IGL03029:Akap6	APN	12	52,886,412 (GRCm38)	missense	probably damaging	1.00
IGL03129:Akap6	APN	12	53,140,306 (GRCm38)	missense	probably damaging	1.00
R0133:Akap6	UTSW	12	53,139,471 (GRCm38)	nonsense	probably null
R0166:Akap6	UTSW	12	53,140,924 (GRCm38)	missense	probably benign	0.04
R0189:Akap6	UTSW	12	53,141,254 (GRCm38)	missense	probably benign	0.41
R0532:Akap6	UTSW	12	52,887,983 (GRCm38)	missense	probably benign	0.00
R0632:Akap6	UTSW	12	52,937,148 (GRCm38)	missense	probably damaging	1.00
R0666:Akap6	UTSW	12	52,911,808 (GRCm38)	missense	probably damaging	1.00
R0723:Akap6	UTSW	12	53,141,902 (GRCm38)	missense	probably damaging	1.00
R0763:Akap6	UTSW	12	53,142,214 (GRCm38)	missense	possibly damaging	0.93
R0785:Akap6	UTSW	12	52,886,622 (GRCm38)	missense	probably benign	0.00
R0879:Akap6	UTSW	12	52,880,799 (GRCm38)	missense	probably damaging	1.00
R0880:Akap6	UTSW	12	53,139,508 (GRCm38)	missense	possibly damaging	0.93
R1033:Akap6	UTSW	12	53,069,222 (GRCm38)	missense	probably damaging	0.97
R1055:Akap6	UTSW	12	52,880,672 (GRCm38)	nonsense	probably null
R1199:Akap6	UTSW	12	52,796,190 (GRCm38)	missense	probably damaging	1.00
R1295:Akap6	UTSW	12	52,887,029 (GRCm38)	missense	probably damaging	1.00
R1389:Akap6	UTSW	12	53,139,520 (GRCm38)	missense	probably benign	0.15
R1471:Akap6	UTSW	12	53,141,496 (GRCm38)	missense	probably benign	0.05
R1483:Akap6	UTSW	12	52,796,087 (GRCm38)	missense	probably damaging	1.00
R1512:Akap6	UTSW	12	52,937,154 (GRCm38)	missense	probably damaging	1.00
R1648:Akap6	UTSW	12	53,142,006 (GRCm38)	nonsense	probably null
R1791:Akap6	UTSW	12	53,069,125 (GRCm38)	missense	probably damaging	1.00
R1888:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1888:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1891:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1899:Akap6	UTSW	12	53,141,852 (GRCm38)	missense	possibly damaging	0.95
R1917:Akap6	UTSW	12	53,104,612 (GRCm38)	missense	probably benign	0.13
R1970:Akap6	UTSW	12	52,938,475 (GRCm38)	missense	probably damaging	0.96
R1987:Akap6	UTSW	12	53,140,795 (GRCm38)	missense	possibly damaging	0.78
R1988:Akap6	UTSW	12	53,140,795 (GRCm38)	missense	possibly damaging	0.78
R2153:Akap6	UTSW	12	53,141,404 (GRCm38)	missense	probably benign	0.03
R2567:Akap6	UTSW	12	52,938,373 (GRCm38)	missense	probably damaging	1.00
R2568:Akap6	UTSW	12	52,887,278 (GRCm38)	missense	possibly damaging	0.77
R3025:Akap6	UTSW	12	53,140,143 (GRCm38)	missense	probably benign
R3051:Akap6	UTSW	12	52,887,033 (GRCm38)	missense	probably damaging	1.00
R3195:Akap6	UTSW	12	53,072,457 (GRCm38)	nonsense	probably null
R3196:Akap6	UTSW	12	53,072,457 (GRCm38)	nonsense	probably null
R3426:Akap6	UTSW	12	52,888,034 (GRCm38)	missense	probably damaging	1.00
R3783:Akap6	UTSW	12	52,880,769 (GRCm38)	missense	probably damaging	1.00
R3934:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92
R3936:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92
R3967:Akap6	UTSW	12	53,141,453 (GRCm38)	missense	probably damaging	1.00
R3970:Akap6	UTSW	12	53,141,453 (GRCm38)	missense	probably damaging	1.00
R4042:Akap6	UTSW	12	53,139,379 (GRCm38)	critical splice acceptor site	probably null
R4095:Akap6	UTSW	12	53,139,462 (GRCm38)	missense	probably damaging	1.00
R4152:Akap6	UTSW	12	53,140,407 (GRCm38)	missense	probably benign	0.45
R4231:Akap6	UTSW	12	53,141,038 (GRCm38)	missense	probably damaging	1.00
R4232:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4233:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4234:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4235:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4236:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4475:Akap6	UTSW	12	53,141,643 (GRCm38)	missense	probably benign	0.00
R4513:Akap6	UTSW	12	52,796,004 (GRCm38)	missense	probably benign	0.03
R4686:Akap6	UTSW	12	52,887,623 (GRCm38)	frame shift	probably null
R4724:Akap6	UTSW	12	52,795,885 (GRCm38)	missense	possibly damaging	0.80
R4782:Akap6	UTSW	12	52,887,623 (GRCm38)	frame shift	probably null
R4852:Akap6	UTSW	12	53,104,675 (GRCm38)	missense	probably damaging	1.00
R5024:Akap6	UTSW	12	53,142,562 (GRCm38)	missense	probably benign	0.01
R5116:Akap6	UTSW	12	53,141,515 (GRCm38)	missense	probably benign	0.01
R5164:Akap6	UTSW	12	53,142,466 (GRCm38)	missense	probably benign
R5225:Akap6	UTSW	12	52,886,546 (GRCm38)	missense	probably damaging	1.00
R5269:Akap6	UTSW	12	53,139,843 (GRCm38)	missense	probably damaging	0.99
R5352:Akap6	UTSW	12	52,796,097 (GRCm38)	missense	probably damaging	1.00
R5496:Akap6	UTSW	12	53,140,653 (GRCm38)	missense	possibly damaging	0.87
R5551:Akap6	UTSW	12	52,795,964 (GRCm38)	missense	probably damaging	1.00
R5997:Akap6	UTSW	12	52,937,233 (GRCm38)	critical splice donor site	probably null
R6137:Akap6	UTSW	12	53,140,354 (GRCm38)	missense	probably damaging	1.00
R6151:Akap6	UTSW	12	53,025,792 (GRCm38)	missense	probably damaging	1.00
R6169:Akap6	UTSW	12	53,142,358 (GRCm38)	missense	probably benign
R6307:Akap6	UTSW	12	53,141,568 (GRCm38)	missense	possibly damaging	0.85
R6351:Akap6	UTSW	12	53,142,025 (GRCm38)	missense	probably damaging	0.98
R6479:Akap6	UTSW	12	53,141,169 (GRCm38)	missense	probably damaging	1.00
R6502:Akap6	UTSW	12	53,140,215 (GRCm38)	missense	probably damaging	1.00
R6760:Akap6	UTSW	12	53,139,778 (GRCm38)	missense	probably damaging	1.00
R6778:Akap6	UTSW	12	53,025,816 (GRCm38)	missense	probably damaging	1.00
R6837:Akap6	UTSW	12	53,141,262 (GRCm38)	missense	probably damaging	1.00
R6896:Akap6	UTSW	12	52,887,494 (GRCm38)	missense	probably benign	0.06
R6917:Akap6	UTSW	12	53,069,168 (GRCm38)	missense	probably null	0.97
R6983:Akap6	UTSW	12	52,887,653 (GRCm38)	missense	probably damaging	1.00
R7142:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7143:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7216:Akap6	UTSW	12	53,140,457 (GRCm38)	missense	probably benign	0.02
R7297:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7356:Akap6	UTSW	12	52,911,864 (GRCm38)	missense	probably damaging	1.00
R7378:Akap6	UTSW	12	53,142,574 (GRCm38)	missense	probably benign	0.00
R7382:Akap6	UTSW	12	53,142,171 (GRCm38)	missense	probably benign	0.00
R7498:Akap6	UTSW	12	53,142,705 (GRCm38)	nonsense	probably null
R7542:Akap6	UTSW	12	53,069,234 (GRCm38)	missense	probably damaging	1.00
R7589:Akap6	UTSW	12	53,142,063 (GRCm38)	nonsense	probably null
R7676:Akap6	UTSW	12	52,886,850 (GRCm38)	missense	possibly damaging	0.94
R7814:Akap6	UTSW	12	53,140,961 (GRCm38)	missense	probably benign	0.28
R7971:Akap6	UTSW	12	53,139,795 (GRCm38)	missense	probably damaging	1.00
R8039:Akap6	UTSW	12	53,141,676 (GRCm38)	missense	probably benign	0.00
R8425:Akap6	UTSW	12	52,886,621 (GRCm38)	missense	probably benign	0.00
R8747:Akap6	UTSW	12	53,142,216 (GRCm38)	missense	probably benign	0.01
R8885:Akap6	UTSW	12	53,141,536 (GRCm38)	missense	probably benign
R8956:Akap6	UTSW	12	53,140,344 (GRCm38)	missense	probably benign	0.00
R8989:Akap6	UTSW	12	52,880,871 (GRCm38)	missense	probably damaging	1.00
R9014:Akap6	UTSW	12	53,139,620 (GRCm38)	missense	possibly damaging	0.60
R9031:Akap6	UTSW	12	53,142,048 (GRCm38)	missense	probably benign	0.36
R9216:Akap6	UTSW	12	52,880,885 (GRCm38)	missense	probably benign	0.05
R9220:Akap6	UTSW	12	53,140,449 (GRCm38)	missense	possibly damaging	0.49
R9286:Akap6	UTSW	12	53,072,471 (GRCm38)	missense	possibly damaging	0.90
R9347:Akap6	UTSW	12	53,069,111 (GRCm38)	missense	probably damaging	1.00
R9475:Akap6	UTSW	12	53,010,552 (GRCm38)	missense	probably damaging	1.00
R9509:Akap6	UTSW	12	53,142,238 (GRCm38)	missense	probably damaging	0.99
R9523:Akap6	UTSW	12	52,795,889 (GRCm38)	missense	probably benign	0.02
R9600:Akap6	UTSW	12	52,886,558 (GRCm38)	missense	probably benign	0.04
R9612:Akap6	UTSW	12	52,911,907 (GRCm38)	missense	probably damaging	1.00
R9627:Akap6	UTSW	12	53,104,630 (GRCm38)	missense
R9666:Akap6	UTSW	12	53,141,535 (GRCm38)	missense	probably benign
R9784:Akap6	UTSW	12	53,141,070 (GRCm38)	missense	probably damaging	1.00
X0062:Akap6	UTSW	12	53,142,361 (GRCm38)	missense	probably benign	0.43
Z1176:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CGGAAGAAGAGCTGTGTCTC -3'
(R):5'- ACATTGCCATTTTCCATGTCGG -3'

Sequencing Primer
(F):5'- TCAAAGATGAGGATGACGACTCC -3'
(R):5'- CACATGTGGATCTTTAGTAACGTCG -3'

Posted On

2022-03-25