Mutagenetix > Incidental Mutation

Incidental Mutation 'R7971:Akap6'

650625

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase (PRKA) anchor protein 6

Synonyms

MMRRC Submission

046014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R7971 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52699383-53155599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53139795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1331 (S1331P)

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: S1331P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: S1331P

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

0.2309

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	G	A	11: 81,863,700 (GRCm38)	A16T	unknown	Het
Abcc1	T	A	16: 14,448,579 (GRCm38)	D880E	probably benign	Het
Adamts2	G	A	11: 50,756,696 (GRCm38)	V299I	probably damaging	Het
Alms1	T	C	6: 85,628,679 (GRCm38)	L1968S	probably benign	Het
Amotl2	C	T	9: 102,723,769 (GRCm38)	T345I	probably benign	Het
Cacnb2	A	T	2: 14,971,598 (GRCm38)	M277L	possibly damaging	Het
Cd80	T	A	16: 38,474,029 (GRCm38)	Y91*	probably null	Het
Cfap46	A	G	7: 139,635,127 (GRCm38)	S1561P	unknown	Het
Clasp1	C	T	1: 118,521,829 (GRCm38)	R647W	probably damaging	Het
Creld1	T	C	6: 113,491,972 (GRCm38)	V299A	probably benign	Het
Csk	C	A	9: 57,628,687 (GRCm38)	G260V	probably benign	Het
Dao	AGG	AG	5: 114,015,209 (GRCm38)		probably benign	Het
Dgkg	G	A	16: 22,570,216 (GRCm38)	Q403*	probably null	Het
Dnaaf2	T	C	12: 69,197,345 (GRCm38)	D314G	probably damaging	Het
Dsp	T	A	13: 38,192,523 (GRCm38)	L1428Q	probably damaging	Het
Fastkd1	A	G	2: 69,707,359 (GRCm38)	V293A	probably benign	Het
Gm4353	C	A	7: 116,083,512 (GRCm38)	S278I	possibly damaging	Het
Hmgb2	A	G	8: 57,513,134 (GRCm38)	M75V	possibly damaging	Het
Hoxa4	G	A	6: 52,191,731 (GRCm38)		probably benign	Het
Ifi206	A	T	1: 173,471,410 (GRCm38)	W877R	unknown	Het
Ifi44	T	A	3: 151,749,220 (GRCm38)	I123F	possibly damaging	Het
Kcnh6	A	G	11: 106,017,527 (GRCm38)	Y323C	probably damaging	Het
Lars	T	C	18: 42,218,566 (GRCm38)	T858A	probably benign	Het
Mest	T	A	6: 30,740,735 (GRCm38)	I38N		Het
Npy2r	A	T	3: 82,540,868 (GRCm38)	I200N	probably damaging	Het
Olfm4	T	A	14: 80,021,800 (GRCm38)	M496K	probably damaging	Het
Olfml2a	A	T	2: 38,941,782 (GRCm38)		probably null	Het
Olfr894	G	T	9: 38,219,547 (GRCm38)	L238F	probably benign	Het
Omd	A	T	13: 49,590,254 (GRCm38)	H260L	probably benign	Het
Pigk	C	A	3: 152,744,539 (GRCm38)	Q274K	probably benign	Het
Pmpca	G	A	2: 26,393,152 (GRCm38)	G352R	probably damaging	Het
Prex1	C	T	2: 166,581,939 (GRCm38)	S1181N	probably damaging	Het
Prkg2	A	T	5: 98,932,014 (GRCm38)	F762Y	probably damaging	Het
Rcc1l	A	G	5: 134,165,369 (GRCm38)	S250P	probably damaging	Het
Rufy1	A	T	11: 50,421,671 (GRCm38)	F152Y	probably damaging	Het
Scaf1	T	A	7: 45,003,541 (GRCm38)	T1179S	unknown	Het
Sh3d19	A	G	3: 86,114,796 (GRCm38)	D511G	probably benign	Het
Shroom3	C	T	5: 92,951,074 (GRCm38)	S1471L	probably damaging	Het
Slc12a4	G	A	8: 105,951,605 (GRCm38)	R319W	possibly damaging	Het
Slc13a4	A	G	6: 35,271,760 (GRCm38)	L484P	probably damaging	Het
Slc35a1	T	C	4: 34,664,161 (GRCm38)	D319G	probably benign	Het
Synm	T	C	7: 67,735,235 (GRCm38)	E893G	possibly damaging	Het
Tatdn2	A	G	6: 113,710,274 (GRCm38)		probably null	Het
Thada	T	A	17: 84,272,769 (GRCm38)	D1419V	possibly damaging	Het
Tmem87b	A	G	2: 128,850,330 (GRCm38)	D535G	probably null	Het
Tnfrsf25	A	C	4: 152,119,736 (GRCm38)	Q378P	probably damaging	Het
Trim34a	T	C	7: 104,247,818 (GRCm38)	C30R	probably damaging	Het
Triml2	T	C	8: 43,190,276 (GRCm38)	S212P	probably damaging	Het
Tubg1	G	T	11: 101,124,028 (GRCm38)	A199S	probably benign	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
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'- TCCGGTTATGAAGAGGAGGC -3'
(R):5'- TTTCAGGGTTACTCGGGGAC -3'

Sequencing Primer
(F):5'- ACTGTGGAGGGTCCCAGTATAC -3'
(R):5'- GGGACCCATCGACCATACTG -3'

Posted On

2020-09-15