Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Akap1'

597744

Institutional Source

Beutler Lab

Gene Symbol

Akap1

Ensembl Gene

ENSMUSG00000018428

Gene Name

A kinase (PRKA) anchor protein 1

Synonyms

DAKAP1, AKAP84, S-AKAP84, AKAP121

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001042541.1, NM_009648.2; MGI:104729

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88830792-88864586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88845833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 34 (M34R)

Ref Sequence

ENSEMBL: ENSMUSP00000103537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]

AlphaFold

O08715

Predicted Effect

probably null
Transcript: ENSMUST00000018572
AA Change: M1R

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

SMART Domains

Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: M1R

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107903
AA Change: M1R

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

SMART Domains

Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: M1R

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107904
AA Change: M34R

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

SMART Domains

Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: M34R

Domain	Start	End	E-Value	Type
transmembrane domain	40	59	N/A	INTRINSIC
low complexity region	60	71	N/A	INTRINSIC
low complexity region	482	495	N/A	INTRINSIC
KH	593	663	1.59e-10	SMART
low complexity region	672	684	N/A	INTRINSIC
TUDOR	743	802	5.32e-12	SMART
low complexity region	811	823	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000143720
AA Change: M1R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: M1R

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
Pfam:RII_binding_1	305	322	5.5e-5	PFAM
low complexity region	449	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153787

SMART Domains

Protein: ENSMUSP00000123018
Gene: ENSMUSG00000018428

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

Strain: 3620561
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 binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]

Allele List at MGI

All alleles(49) : Targeted(3) Gene trapped(46)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Akap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Akap1	APN	11	88844254	splice site	probably null
IGL01333:Akap1	APN	11	88845605	missense	probably damaging	0.99
IGL01701:Akap1	APN	11	88845132	missense	probably benign	0.03
IGL01920:Akap1	APN	11	88839633	missense	probably damaging	1.00
IGL02980:Akap1	UTSW	11	88845164	missense	probably benign
PIT4305001:Akap1	UTSW	11	88844378	missense	probably benign
R0049:Akap1	UTSW	11	88839624	critical splice donor site	probably null
R0049:Akap1	UTSW	11	88839624	critical splice donor site	probably null
R0278:Akap1	UTSW	11	88845194	missense	probably benign	0.19
R1437:Akap1	UTSW	11	88844751	nonsense	probably null
R1438:Akap1	UTSW	11	88844751	nonsense	probably null
R1439:Akap1	UTSW	11	88844751	nonsense	probably null
R1569:Akap1	UTSW	11	88833180	missense	probably benign	0.02
R1611:Akap1	UTSW	11	88845278	missense	probably benign	0.27
R1757:Akap1	UTSW	11	88845752	missense	probably damaging	1.00
R2328:Akap1	UTSW	11	88845044	missense	possibly damaging	0.46
R2897:Akap1	UTSW	11	88844779	nonsense	probably null
R3730:Akap1	UTSW	11	88845182	missense	possibly damaging	0.82
R4868:Akap1	UTSW	11	88844553	missense	possibly damaging	0.83
R5620:Akap1	UTSW	11	88845517	missense	possibly damaging	0.82
R5645:Akap1	UTSW	11	88845627	missense	probably benign	0.01
R5886:Akap1	UTSW	11	88834660	critical splice donor site	probably null
R5932:Akap1	UTSW	11	88831759	missense	probably damaging	1.00
R6284:Akap1	UTSW	11	88844568	missense	possibly damaging	0.66
R6555:Akap1	UTSW	11	88844882	missense	probably damaging	1.00
R7234:Akap1	UTSW	11	88838982	missense	probably damaging	1.00
R7436:Akap1	UTSW	11	88845528	missense	probably damaging	1.00
R8356:Akap1	UTSW	11	88834731	critical splice acceptor site	probably null
R8456:Akap1	UTSW	11	88834731	critical splice acceptor site	probably null
R8796:Akap1	UTSW	11	88839672	missense	probably damaging	1.00
R8948:Akap1	UTSW	11	88844273	missense	probably damaging	1.00
R9006:Akap1	UTSW	11	88833170	missense	possibly damaging	0.83
R9116:Akap1	UTSW	11	88832339	missense	probably damaging	1.00
R9174:Akap1	UTSW	11	88835165	missense	probably damaging	1.00
R9294:Akap1	UTSW	11	88837140	missense	probably damaging	1.00
Z1176:Akap1	UTSW	11	88837167	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CTGTAGAAGGCTTGTCCACACAG -3'
(R):5'- TACATGCGGTTCCTGTACCC -3'

Sequencing Primer
(F):5'- TTGTCCACACAGCGCTG -3'
(R):5'- ACAGAATCTCATTATGTAGCCCTGGC -3'

Posted On

2019-11-26