Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Akap6'

699209

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase anchor protein 6

Synonyms

MMRRC Submission

068958-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52746166-53202382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52927668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 193 (T193S)

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: T193S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: T193S

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
AA Change: T193S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	T	C	7: 79,486,049 (GRCm39)	T558A	possibly damaging	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
B3galnt2	T	C	13: 14,165,423 (GRCm39)	V273A	probably benign	Het
Bag3	C	A	7: 128,143,923 (GRCm39)	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,177,514 (GRCm39)	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,761,563 (GRCm39)	L541V	probably damaging	Het
C6	A	T	15: 4,820,465 (GRCm39)	D492V	probably damaging	Het
Cdhr5	C	T	7: 140,851,615 (GRCm39)	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,019,474 (GRCm39)	L281V	probably benign	Het
Egflam	G	A	15: 7,281,942 (GRCm39)	T398I	probably benign	Het
Eif4g2	T	G	7: 110,673,415 (GRCm39)	D788A	probably benign	Het
Elavl4	T	C	4: 110,108,546 (GRCm39)	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,276,887 (GRCm39)	D87V	probably damaging	Het
Fsip2	A	T	2: 82,820,425 (GRCm39)	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,108,959 (GRCm39)	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338 (GRCm38)	R47G	probably damaging	Het
Itpkc	A	T	7: 26,927,429 (GRCm39)	C162S	probably benign	Het
Katnip	T	A	7: 125,471,926 (GRCm39)	I1531N	probably damaging	Het
Kremen2	C	T	17: 23,962,781 (GRCm39)	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,806,972 (GRCm39)	Q480L	probably benign	Het
Lyst	T	C	13: 13,823,188 (GRCm39)	C1387R	probably benign	Het
Nmi	A	G	2: 51,846,003 (GRCm39)	V93A	probably damaging	Het
Ntn1	T	C	11: 68,117,397 (GRCm39)	K484R	possibly damaging	Het
Olig1	T	C	16: 91,066,915 (GRCm39)	S51P	probably benign	Het
Or6c76	A	T	10: 129,611,796 (GRCm39)	R4S	probably benign	Het
Pah	G	T	10: 87,357,888 (GRCm39)	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel39-ps	A	T	5: 94,450,952 (GRCm39)	N391K	possibly damaging	Het
Prox1	C	A	1: 189,892,905 (GRCm39)	E513D	possibly damaging	Het
Psd3	T	C	8: 68,573,539 (GRCm39)	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,108,628 (GRCm39)	S505G	probably benign	Het
Ryr1	A	T	7: 28,801,277 (GRCm39)	L829H	probably damaging	Het
Sec16a	A	T	2: 26,304,401 (GRCm39)	D852E		Het
Senp2	T	C	16: 21,847,344 (GRCm39)		probably null	Het
Sf3b1	A	G	1: 55,051,376 (GRCm39)	V184A	probably benign	Het
Skint5	T	C	4: 113,392,955 (GRCm39)	T1226A	unknown	Het
Slc1a6	G	A	10: 78,637,692 (GRCm39)	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,578,659 (GRCm39)	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,611 (GRCm39)	Y932C	probably damaging	Het
Spidr	T	A	16: 15,936,814 (GRCm39)	N97I	probably benign	Het
Ttn	A	G	2: 76,748,504 (GRCm39)	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,534,514 (GRCm39)	S138P	probably damaging	Het
Ubr2	C	T	17: 47,292,285 (GRCm39)	A393T	probably benign	Het
Utrn	G	T	10: 12,689,229 (GRCm39)	P19T	probably benign	Het
Vcl	T	G	14: 21,033,515 (GRCm39)	L157W	probably damaging	Het
Vmn1r184	A	T	7: 25,966,703 (GRCm39)	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,877,257 (GRCm39)	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,112 (GRCm39)	S154T	probably benign	Het
Wbp2	T	C	11: 115,974,724 (GRCm39)	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,221,528 (GRCm39)	D142E	unknown	Het
Zmym6	T	C	4: 127,002,500 (GRCm39)	V577A	probably benign	Het
Zxdc	C	A	6: 90,359,189 (GRCm39)	T607K	probably benign	Het

Other mutations in Akap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Akap6	APN	12	53,187,763 (GRCm39)	missense	possibly damaging	0.79
IGL00505:Akap6	APN	12	52,933,885 (GRCm39)	missense	possibly damaging	0.92
IGL01134:Akap6	APN	12	52,984,000 (GRCm39)	missense	probably damaging	0.96
IGL01458:Akap6	APN	12	52,933,601 (GRCm39)	nonsense	probably null
IGL01589:Akap6	APN	12	53,186,447 (GRCm39)	missense	probably damaging	1.00
IGL01592:Akap6	APN	12	53,188,925 (GRCm39)	missense	probably damaging	1.00
IGL01738:Akap6	APN	12	52,933,600 (GRCm39)	missense	probably damaging	0.99
IGL01867:Akap6	APN	12	52,934,791 (GRCm39)	missense	probably damaging	1.00
IGL02025:Akap6	APN	12	53,187,118 (GRCm39)	missense	probably benign
IGL02041:Akap6	APN	12	53,187,436 (GRCm39)	missense	probably damaging	1.00
IGL02058:Akap6	APN	12	53,187,338 (GRCm39)	missense	probably damaging	1.00
IGL02194:Akap6	APN	12	52,933,606 (GRCm39)	missense	probably benign	0.00
IGL02226:Akap6	APN	12	53,057,250 (GRCm39)	splice site	probably benign
IGL02323:Akap6	APN	12	53,187,212 (GRCm39)	missense	probably benign	0.00
IGL02449:Akap6	APN	12	53,186,971 (GRCm39)	missense	probably damaging	1.00
IGL02475:Akap6	APN	12	53,186,277 (GRCm39)	missense	probably benign	0.03
IGL02546:Akap6	APN	12	52,927,521 (GRCm39)	missense	probably damaging	1.00
IGL02547:Akap6	APN	12	53,187,479 (GRCm39)	missense	probably damaging	1.00
IGL02588:Akap6	APN	12	52,933,282 (GRCm39)	nonsense	probably null
IGL02608:Akap6	APN	12	53,057,389 (GRCm39)	missense	probably benign	0.39
IGL02884:Akap6	APN	12	52,933,405 (GRCm39)	missense	probably benign	0.00
IGL02945:Akap6	APN	12	52,927,620 (GRCm39)	missense	probably damaging	1.00
IGL03029:Akap6	APN	12	52,933,195 (GRCm39)	missense	probably damaging	1.00
IGL03129:Akap6	APN	12	53,187,089 (GRCm39)	missense	probably damaging	1.00
R0133:Akap6	UTSW	12	53,186,254 (GRCm39)	nonsense	probably null
R0166:Akap6	UTSW	12	53,187,707 (GRCm39)	missense	probably benign	0.04
R0189:Akap6	UTSW	12	53,188,037 (GRCm39)	missense	probably benign	0.41
R0532:Akap6	UTSW	12	52,934,766 (GRCm39)	missense	probably benign	0.00
R0632:Akap6	UTSW	12	52,983,931 (GRCm39)	missense	probably damaging	1.00
R0666:Akap6	UTSW	12	52,958,591 (GRCm39)	missense	probably damaging	1.00
R0723:Akap6	UTSW	12	53,188,685 (GRCm39)	missense	probably damaging	1.00
R0763:Akap6	UTSW	12	53,188,997 (GRCm39)	missense	possibly damaging	0.93
R0785:Akap6	UTSW	12	52,933,405 (GRCm39)	missense	probably benign	0.00
R0879:Akap6	UTSW	12	52,927,582 (GRCm39)	missense	probably damaging	1.00
R0880:Akap6	UTSW	12	53,186,291 (GRCm39)	missense	possibly damaging	0.93
R1033:Akap6	UTSW	12	53,116,005 (GRCm39)	missense	probably damaging	0.97
R1055:Akap6	UTSW	12	52,927,455 (GRCm39)	nonsense	probably null
R1199:Akap6	UTSW	12	52,842,973 (GRCm39)	missense	probably damaging	1.00
R1295:Akap6	UTSW	12	52,933,812 (GRCm39)	missense	probably damaging	1.00
R1389:Akap6	UTSW	12	53,186,303 (GRCm39)	missense	probably benign	0.15
R1471:Akap6	UTSW	12	53,188,279 (GRCm39)	missense	probably benign	0.05
R1483:Akap6	UTSW	12	52,842,870 (GRCm39)	missense	probably damaging	1.00
R1512:Akap6	UTSW	12	52,983,937 (GRCm39)	missense	probably damaging	1.00
R1648:Akap6	UTSW	12	53,188,789 (GRCm39)	nonsense	probably null
R1791:Akap6	UTSW	12	53,115,908 (GRCm39)	missense	probably damaging	1.00
R1888:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1888:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1891:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1899:Akap6	UTSW	12	53,188,635 (GRCm39)	missense	possibly damaging	0.95
R1917:Akap6	UTSW	12	53,151,395 (GRCm39)	missense	probably benign	0.13
R1970:Akap6	UTSW	12	52,985,258 (GRCm39)	missense	probably damaging	0.96
R1987:Akap6	UTSW	12	53,187,578 (GRCm39)	missense	possibly damaging	0.78
R1988:Akap6	UTSW	12	53,187,578 (GRCm39)	missense	possibly damaging	0.78
R2153:Akap6	UTSW	12	53,188,187 (GRCm39)	missense	probably benign	0.03
R2567:Akap6	UTSW	12	52,985,156 (GRCm39)	missense	probably damaging	1.00
R2568:Akap6	UTSW	12	52,934,061 (GRCm39)	missense	possibly damaging	0.77
R3025:Akap6	UTSW	12	53,186,926 (GRCm39)	missense	probably benign
R3051:Akap6	UTSW	12	52,933,816 (GRCm39)	missense	probably damaging	1.00
R3195:Akap6	UTSW	12	53,119,240 (GRCm39)	nonsense	probably null
R3196:Akap6	UTSW	12	53,119,240 (GRCm39)	nonsense	probably null
R3426:Akap6	UTSW	12	52,934,817 (GRCm39)	missense	probably damaging	1.00
R3783:Akap6	UTSW	12	52,927,552 (GRCm39)	missense	probably damaging	1.00
R3934:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92
R3936:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92
R3967:Akap6	UTSW	12	53,188,236 (GRCm39)	missense	probably damaging	1.00
R3970:Akap6	UTSW	12	53,188,236 (GRCm39)	missense	probably damaging	1.00
R4042:Akap6	UTSW	12	53,186,162 (GRCm39)	critical splice acceptor site	probably null
R4095:Akap6	UTSW	12	53,186,245 (GRCm39)	missense	probably damaging	1.00
R4152:Akap6	UTSW	12	53,187,190 (GRCm39)	missense	probably benign	0.45
R4231:Akap6	UTSW	12	53,187,821 (GRCm39)	missense	probably damaging	1.00
R4232:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4233:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4234:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4235:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4236:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4475:Akap6	UTSW	12	53,188,426 (GRCm39)	missense	probably benign	0.00
R4513:Akap6	UTSW	12	52,842,787 (GRCm39)	missense	probably benign	0.03
R4686:Akap6	UTSW	12	52,934,406 (GRCm39)	frame shift	probably null
R4724:Akap6	UTSW	12	52,842,668 (GRCm39)	missense	possibly damaging	0.80
R4782:Akap6	UTSW	12	52,934,406 (GRCm39)	frame shift	probably null
R4852:Akap6	UTSW	12	53,151,458 (GRCm39)	missense	probably damaging	1.00
R5024:Akap6	UTSW	12	53,189,345 (GRCm39)	missense	probably benign	0.01
R5116:Akap6	UTSW	12	53,188,298 (GRCm39)	missense	probably benign	0.01
R5164:Akap6	UTSW	12	53,189,249 (GRCm39)	missense	probably benign
R5225:Akap6	UTSW	12	52,933,329 (GRCm39)	missense	probably damaging	1.00
R5269:Akap6	UTSW	12	53,186,626 (GRCm39)	missense	probably damaging	0.99
R5352:Akap6	UTSW	12	52,842,880 (GRCm39)	missense	probably damaging	1.00
R5496:Akap6	UTSW	12	53,187,436 (GRCm39)	missense	possibly damaging	0.87
R5551:Akap6	UTSW	12	52,842,747 (GRCm39)	missense	probably damaging	1.00
R5997:Akap6	UTSW	12	52,984,016 (GRCm39)	critical splice donor site	probably null
R6137:Akap6	UTSW	12	53,187,137 (GRCm39)	missense	probably damaging	1.00
R6151:Akap6	UTSW	12	53,072,575 (GRCm39)	missense	probably damaging	1.00
R6169:Akap6	UTSW	12	53,189,141 (GRCm39)	missense	probably benign
R6307:Akap6	UTSW	12	53,188,351 (GRCm39)	missense	possibly damaging	0.85
R6351:Akap6	UTSW	12	53,188,808 (GRCm39)	missense	probably damaging	0.98
R6479:Akap6	UTSW	12	53,187,952 (GRCm39)	missense	probably damaging	1.00
R6502:Akap6	UTSW	12	53,186,998 (GRCm39)	missense	probably damaging	1.00
R6760:Akap6	UTSW	12	53,186,561 (GRCm39)	missense	probably damaging	1.00
R6778:Akap6	UTSW	12	53,072,599 (GRCm39)	missense	probably damaging	1.00
R6837:Akap6	UTSW	12	53,188,045 (GRCm39)	missense	probably damaging	1.00
R6896:Akap6	UTSW	12	52,934,277 (GRCm39)	missense	probably benign	0.06
R6917:Akap6	UTSW	12	53,115,951 (GRCm39)	missense	probably null	0.97
R6983:Akap6	UTSW	12	52,934,436 (GRCm39)	missense	probably damaging	1.00
R7142:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7143:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7216:Akap6	UTSW	12	53,187,240 (GRCm39)	missense	probably benign	0.02
R7297:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7356:Akap6	UTSW	12	52,958,647 (GRCm39)	missense	probably damaging	1.00
R7378:Akap6	UTSW	12	53,189,357 (GRCm39)	missense	probably benign	0.00
R7382:Akap6	UTSW	12	53,188,954 (GRCm39)	missense	probably benign	0.00
R7498:Akap6	UTSW	12	53,189,488 (GRCm39)	nonsense	probably null
R7542:Akap6	UTSW	12	53,116,017 (GRCm39)	missense	probably damaging	1.00
R7589:Akap6	UTSW	12	53,188,846 (GRCm39)	nonsense	probably null
R7676:Akap6	UTSW	12	52,933,633 (GRCm39)	missense	possibly damaging	0.94
R7814:Akap6	UTSW	12	53,187,744 (GRCm39)	missense	probably benign	0.28
R7971:Akap6	UTSW	12	53,186,578 (GRCm39)	missense	probably damaging	1.00
R8039:Akap6	UTSW	12	53,188,459 (GRCm39)	missense	probably benign	0.00
R8425:Akap6	UTSW	12	52,933,404 (GRCm39)	missense	probably benign	0.00
R8747:Akap6	UTSW	12	53,188,999 (GRCm39)	missense	probably benign	0.01
R8885:Akap6	UTSW	12	53,188,319 (GRCm39)	missense	probably benign
R8956:Akap6	UTSW	12	53,187,127 (GRCm39)	missense	probably benign	0.00
R8989:Akap6	UTSW	12	52,927,654 (GRCm39)	missense	probably damaging	1.00
R9014:Akap6	UTSW	12	53,186,403 (GRCm39)	missense	possibly damaging	0.60
R9031:Akap6	UTSW	12	53,188,831 (GRCm39)	missense	probably benign	0.36
R9220:Akap6	UTSW	12	53,187,232 (GRCm39)	missense	possibly damaging	0.49
R9243:Akap6	UTSW	12	53,188,035 (GRCm39)	missense	probably benign	0.08
R9286:Akap6	UTSW	12	53,119,254 (GRCm39)	missense	possibly damaging	0.90
R9347:Akap6	UTSW	12	53,115,894 (GRCm39)	missense	probably damaging	1.00
R9475:Akap6	UTSW	12	53,057,335 (GRCm39)	missense	probably damaging	1.00
R9509:Akap6	UTSW	12	53,189,021 (GRCm39)	missense	probably damaging	0.99
R9523:Akap6	UTSW	12	52,842,672 (GRCm39)	missense	probably benign	0.02
R9600:Akap6	UTSW	12	52,933,341 (GRCm39)	missense	probably benign	0.04
R9612:Akap6	UTSW	12	52,958,690 (GRCm39)	missense	probably damaging	1.00
R9627:Akap6	UTSW	12	53,151,413 (GRCm39)	missense
R9666:Akap6	UTSW	12	53,188,318 (GRCm39)	missense	probably benign
R9784:Akap6	UTSW	12	53,187,853 (GRCm39)	missense	probably damaging	1.00
X0062:Akap6	UTSW	12	53,189,144 (GRCm39)	missense	probably benign	0.43
Z1176:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTCCTACTCGGTCAATGTCATC -3'
(R):5'- TCAGGAAGTGCTAACATCCATGG -3'

Sequencing Primer
(F):5'- ACTCGGTCAATGTCATCGTAGAC -3'
(R):5'- ATGTCAAAAGCCTGCTTCATAC -3'

Posted On

2022-02-07