Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Akap6'

320921

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase (PRKA) anchor protein 6

Synonyms

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52699383-53155599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53139671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1289 (N1289K)

Ref Sequence

ENSEMBL: ENSMUSP00000093406 (fasta)

Gene Model

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

AlphaFold

E9Q9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095737
AA Change: N1289K

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

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: N1289K

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

Meta Mutation Damage Score

0.2233

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529 (GRCm38)	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526 (GRCm38)	R490G	probably damaging	Het
Arhgap21	A	G	2: 20,887,137 (GRCm38)	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345 (GRCm38)	K184E	probably benign	Het
Aven	A	G	2: 112,627,768 (GRCm38)	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772 (GRCm38)	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993 (GRCm38)	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813 (GRCm38)		probably null	Het
Dmxl2	T	C	9: 54,419,909 (GRCm38)	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916 (GRCm38)	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871 (GRCm38)	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252 (GRCm38)	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189 (GRCm38)	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233 (GRCm38)		probably benign	Het
Fkbp7	A	T	2: 76,663,317 (GRCm38)	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966 (GRCm38)	I5V	probably benign	Het
Garin3	C	A	11: 46,407,405 (GRCm38)	T512K	possibly damaging	Het
Helz2	A	T	2: 181,229,902 (GRCm38)	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189 (GRCm38)	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648 (GRCm38)	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363 (GRCm38)	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392 (GRCm38)	E5104G	probably damaging	Het
Mrps30	T	C	13: 118,386,840 (GRCm38)	D132G	probably damaging	Het
Mrtfa	T	A	15: 81,023,595 (GRCm38)	K29M	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677 (GRCm38)		probably null	Het
Nfkb1	A	G	3: 135,603,770 (GRCm38)	V521A	probably damaging	Het
Or2b7	T	C	13: 21,555,461 (GRCm38)	D187G	probably damaging	Het
Or7g31	G	T	9: 19,477,726 (GRCm38)	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767 (GRCm38)	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948 (GRCm38)	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079 (GRCm38)	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792 (GRCm38)	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849 (GRCm38)	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644 (GRCm38)	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083 (GRCm38)	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145 (GRCm38)	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372 (GRCm38)	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587 (GRCm38)	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573 (GRCm38)	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215 (GRCm38)	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370 (GRCm38)		probably null	Het
Ttc21a	A	T	9: 119,942,618 (GRCm38)	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803 (GRCm38)	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210 (GRCm38)	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912 (GRCm38)	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587 (GRCm38)	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261 (GRCm38)	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984 (GRCm38)	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654 (GRCm38)	W1543C	possibly 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
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
R9243:Akap6	UTSW	12	53,141,252 (GRCm38)	missense	probably benign	0.08
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'- GAATGAGTGAGGATGCCCTG -3'
(R):5'- AGTAAGGCCTCACCAAGCTG -3'

Sequencing Primer
(F):5'- GTGCATGAAGAATCCAACGACCTTG -3'
(R):5'- TGGAACCCCCTAAAAGGTCTGG -3'

Posted On

2015-06-12