Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Akap6'

583972

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase anchor protein 6

Synonyms

MMRRC Submission

045614-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52746166-53202382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53116017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1040 (E1040G)

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: E1040G

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

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: E1040G

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 damaging
Transcript: ENSMUST00000219786
AA Change: E1040G

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

Coding Region Coverage

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

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,848 (GRCm39)	T439S	possibly damaging	Het
Akap11	A	T	14: 78,747,732 (GRCm39)	S1552T		Het
Alms1	A	T	6: 85,606,344 (GRCm39)	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,212,582 (GRCm39)	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,505,927 (GRCm39)	E423D	possibly damaging	Het
Ccpg1	T	A	9: 72,919,741 (GRCm39)	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,369,190 (GRCm39)	F286L	probably damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Clgn	A	T	8: 84,122,174 (GRCm39)	S32C	possibly damaging	Het
Csk	C	A	9: 57,536,283 (GRCm39)		probably null	Het
Dchs2	A	G	3: 83,176,591 (GRCm39)	T850A	probably benign	Het
Defb2	T	C	8: 22,333,360 (GRCm39)	V45A	probably benign	Het
Disp2	A	G	2: 118,621,599 (GRCm39)	Q777R	probably damaging	Het
Dll1	C	T	17: 15,590,609 (GRCm39)	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,823,658 (GRCm39)	I3766V	probably benign	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam53a	A	G	5: 33,764,815 (GRCm39)	M297T	probably damaging	Het
Fat4	A	G	3: 39,035,504 (GRCm39)	D3052G	possibly damaging	Het
Fat4	A	T	3: 39,035,770 (GRCm39)	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,741,422 (GRCm39)	V180A	probably benign	Het
Frem2	A	T	3: 53,560,000 (GRCm39)	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,815,196 (GRCm39)	N3643I	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,729,491 (GRCm39)	A659S	possibly damaging	Het
Gm8011	A	T	14: 42,288,741 (GRCm39)	R175*	probably null	Het
Gna15	A	G	10: 81,350,136 (GRCm39)	S89P	probably damaging	Het
Grm2	A	T	9: 106,528,368 (GRCm39)	L172Q	probably damaging	Het
Iqcn	A	G	8: 71,161,415 (GRCm39)	T203A	possibly damaging	Het
Kcnc3	A	G	7: 44,245,138 (GRCm39)	D476G	possibly damaging	Het
Kcnh6	A	G	11: 105,905,387 (GRCm39)	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,383,858 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,553,094 (GRCm39)	I1332T	probably damaging	Het
Maea	T	C	5: 33,529,007 (GRCm39)	C317R	probably damaging	Het
Manba	T	C	3: 135,272,354 (GRCm39)	V707A	probably benign	Het
Mcph1	C	T	8: 18,681,705 (GRCm39)	R281C	probably benign	Het
Med25	A	T	7: 44,541,215 (GRCm39)	D99E	probably damaging	Het
Megf10	C	A	18: 57,322,642 (GRCm39)	D62E	probably benign	Het
Minar1	T	A	9: 89,483,964 (GRCm39)	T478S	probably damaging	Het
Myod1	A	T	7: 46,026,097 (GRCm39)	M1L	probably benign	Het
Nav3	A	T	10: 109,659,394 (GRCm39)	M741K	possibly damaging	Het
Odf2l	A	C	3: 144,859,197 (GRCm39)	K618T	probably damaging	Het
Or4c107	A	T	2: 88,789,119 (GRCm39)	E103V	probably benign	Het
Pcdha2	G	A	18: 37,073,142 (GRCm39)	G258R	probably damaging	Het
Pcdha3	G	A	18: 37,080,784 (GRCm39)	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,673,971 (GRCm39)	V315A	possibly damaging	Het
Prim1	T	C	10: 127,853,903 (GRCm39)	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,822,146 (GRCm39)		probably null	Het
Rab7b	C	T	1: 131,639,379 (GRCm39)	H182Y	probably benign	Het
Reln	C	A	5: 22,160,179 (GRCm39)	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,296 (GRCm39)	M1K	probably null	Het
Rras	G	A	7: 44,669,766 (GRCm39)	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,290,871 (GRCm39)	L318Q	probably benign	Het
Scgb2b18	A	T	7: 32,872,747 (GRCm39)		probably null	Het
Setd1b	A	T	5: 123,286,510 (GRCm39)	M519L	unknown	Het
Tep1	G	A	14: 51,099,948 (GRCm39)	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941 (GRCm39)	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439 (GRCm39)	D536G	probably benign	Het
Thbs1	C	T	2: 117,951,655 (GRCm39)	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,937,814 (GRCm39)	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,031,425 (GRCm39)	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,223,075 (GRCm39)	Y706C	probably damaging	Het
Ttc13	A	T	8: 125,401,842 (GRCm39)		probably null	Het
Tulp1	T	C	17: 28,582,729 (GRCm39)	K140E	probably benign	Het
Urb2	A	G	8: 124,755,327 (GRCm39)	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,258,488 (GRCm39)	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,817,785 (GRCm39)	V509A	probably benign	Het
Zfp202	T	C	9: 40,122,443 (GRCm39)	C402R	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
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
R9216:Akap6	UTSW	12	52,927,668 (GRCm39)	missense	probably benign	0.05
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'- TCTGCCTATAGAACATCCCCGC -3'
(R):5'- TCTGAGAAGAGACAGCTCGG -3'

Sequencing Primer
(F):5'- GCACACTAACGAGTCATCCTTCTC -3'
(R):5'- GAGGAAAAGCAATGTTTTCCCC -3'

Posted On

2019-10-17