Mutagenetix > Incidental Mutation

Incidental Mutation 'R9116:Akap1'

692555

Institutional Source

Beutler Lab

Gene Symbol

Akap1

Ensembl Gene

ENSMUSG00000018428

Gene Name

A kinase anchor protein 1

Synonyms

DAKAP1, S-AKAP84, AKAP84, AKAP121

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9116 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88721618-88755412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88723165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 823 (L823P)

Ref Sequence

ENSEMBL: ENSMUSP00000103536 (fasta)

Gene Model

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

AlphaFold

O08715

Predicted Effect

probably damaging
Transcript: ENSMUST00000018572
AA Change: L823P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: L823P

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: ENSMUST00000107903
AA Change: L823P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: L823P

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: L856P

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

SMART Domains

Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: L856P

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 benign
Transcript: ENSMUST00000143720

SMART Domains

Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,973 (GRCm39)	L689Q		Het
Abcc2	G	A	19: 43,793,391 (GRCm39)	V348M	probably benign	Het
Abhd5	T	C	9: 122,196,992 (GRCm39)	S60P	probably benign	Het
Adamts10	C	A	17: 33,756,330 (GRCm39)	H324Q	probably benign	Het
Aoc1	G	A	6: 48,885,522 (GRCm39)	V676I	probably damaging	Het
Arhgef12	T	C	9: 42,893,241 (GRCm39)		probably benign	Het
Arl4d	A	C	11: 101,557,620 (GRCm39)	S49R	possibly damaging	Het
Atr	A	G	9: 95,747,851 (GRCm39)	I378V	probably benign	Het
Bicd1	G	A	6: 149,385,674 (GRCm39)	V136I	probably benign	Het
Brd1	A	T	15: 88,585,374 (GRCm39)	L820H	possibly damaging	Het
Cfap70	T	C	14: 20,497,590 (GRCm39)	T55A	probably benign	Het
Cog7	G	T	7: 121,570,561 (GRCm39)	N182K	probably damaging	Het
Col4a4	T	A	1: 82,431,752 (GRCm39)	T1511S	unknown	Het
Cr2	A	T	1: 194,840,977 (GRCm39)	Y438*	probably null	Het
Ctnnbl1	T	A	2: 157,648,623 (GRCm39)	V198E	probably damaging	Het
Fam117b	C	T	1: 60,018,456 (GRCm39)	Q58*	probably null	Het
Fam171a2	A	G	11: 102,330,519 (GRCm39)	Y288H	probably damaging	Het
Fam186a	A	T	15: 99,840,472 (GRCm39)	I1924K	possibly damaging	Het
Fancd2	A	G	6: 113,532,180 (GRCm39)	I498V	probably benign	Het
Fat3	T	A	9: 15,909,421 (GRCm39)	I2194F	probably benign	Het
Flg2	T	C	3: 93,109,591 (GRCm39)	S540P	unknown	Het
Gbp9	T	C	5: 105,231,695 (GRCm39)	Y297C		Het
Gck	T	G	11: 5,854,377 (GRCm39)	N283H	possibly damaging	Het
Gm13941	A	T	2: 110,935,146 (GRCm39)	L28Q	unknown	Het
Gpr155	A	G	2: 73,204,109 (GRCm39)	I235T	possibly damaging	Het
Junb	A	C	8: 85,704,052 (GRCm39)	L336R	probably damaging	Het
Krt14	A	T	11: 100,095,904 (GRCm39)	M218K	probably benign	Het
Leprotl1	A	G	8: 34,604,967 (GRCm39)	V102A	probably benign	Het
Lrrc8d	T	C	5: 105,961,908 (GRCm39)	F773L	probably damaging	Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Man1c1	C	T	4: 134,311,705 (GRCm39)	V274M	possibly damaging	Het
Mtor	C	A	4: 148,637,198 (GRCm39)	P2466T	probably benign	Het
Mycbpap	C	A	11: 94,398,032 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,153,593 (GRCm39)	V121M	probably damaging	Het
Myo18b	T	C	5: 112,975,862 (GRCm39)	E1329G	probably damaging	Het
Nipbl	A	T	15: 8,380,340 (GRCm39)	D817E	probably benign	Het
Nthl1	C	T	17: 24,853,753 (GRCm39)	Q133*	probably null	Het
Nup133	A	G	8: 124,660,155 (GRCm39)	M381T	probably benign	Het
Or13c7	T	C	4: 43,854,602 (GRCm39)	C98R	probably damaging	Het
Or2j3	T	C	17: 38,615,654 (GRCm39)	T233A	probably benign	Het
Or51t4	T	C	7: 102,598,527 (GRCm39)	I285T	possibly damaging	Het
Or7e175	T	C	9: 20,048,633 (GRCm39)	Y74H	probably damaging	Het
Or7g20	T	C	9: 18,946,773 (GRCm39)	M118T	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pmpcb	A	T	5: 21,961,608 (GRCm39)	I422F	probably damaging	Het
Prpf8	T	A	11: 75,380,589 (GRCm39)	H97Q	possibly damaging	Het
Psat1	A	G	19: 15,898,332 (GRCm39)	L30P	probably damaging	Het
Rag1	T	C	2: 101,472,820 (GRCm39)	D774G	probably damaging	Het
Rag1	C	T	2: 101,475,137 (GRCm39)	A2T	probably benign	Het
Rccd1	G	T	7: 79,970,728 (GRCm39)	F17L	probably damaging	Het
Rhobtb1	T	A	10: 69,106,579 (GRCm39)	D443E	probably damaging	Het
Rnf13	A	G	3: 57,709,866 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,587,185 (GRCm39)	S4699P	possibly damaging	Het
Scart1	A	G	7: 139,808,277 (GRCm39)	T754A	probably benign	Het
Sdc3	T	C	4: 130,546,352 (GRCm39)	V237A	probably benign	Het
Serinc5	T	A	13: 92,797,514 (GRCm39)		probably benign	Het
Sertad4	A	G	1: 192,528,973 (GRCm39)	I281T	probably benign	Het
Shroom1	T	C	11: 53,354,490 (GRCm39)	S137P	probably damaging	Het
Slurp1	C	T	15: 74,599,450 (GRCm39)	G20D	probably damaging	Het
Sncb	T	A	13: 54,910,512 (GRCm39)	N75Y	probably damaging	Het
Spag8	C	T	4: 43,653,231 (GRCm39)	G77S	unknown	Het
Spink14	A	T	18: 44,164,059 (GRCm39)	I76F	probably damaging	Het
Srfbp1	A	T	18: 52,623,102 (GRCm39)	E372D	possibly damaging	Het
Synpo	A	T	18: 60,735,599 (GRCm39)	N782K	probably damaging	Het
Syt7	T	C	19: 10,421,373 (GRCm39)	M519T	probably damaging	Het
Tlr5	C	T	1: 182,802,160 (GRCm39)	P488L	probably benign	Het
Tmod3	A	T	9: 75,412,202 (GRCm39)	I315N	probably damaging	Het
Ttc12	T	C	9: 49,364,757 (GRCm39)	M340V	probably benign	Het
Ttn	T	A	2: 76,710,959 (GRCm39)	I8392F	unknown	Het
Ttn	A	G	2: 76,769,232 (GRCm39)	V2822A	unknown	Het
Ube3b	C	T	5: 114,542,837 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,145,785 (GRCm39)	N238K		Het
Vmn2r12	T	C	5: 109,233,885 (GRCm39)	T776A	probably damaging	Het
Vps50	G	A	6: 3,588,091 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,366,470 (GRCm39)	D165G		Het
Wdr17	T	A	8: 55,114,605 (GRCm39)	H644L	probably damaging	Het
Zfp628	T	C	7: 4,924,202 (GRCm39)	V808A	probably benign	Het
Zscan21	T	A	5: 138,123,937 (GRCm39)	D205E	probably damaging	Het

Other mutations in Akap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Akap1	APN	11	88,735,080 (GRCm39)	splice site	probably null
IGL01333:Akap1	APN	11	88,736,431 (GRCm39)	missense	probably damaging	0.99
IGL01701:Akap1	APN	11	88,735,958 (GRCm39)	missense	probably benign	0.03
IGL01920:Akap1	APN	11	88,730,459 (GRCm39)	missense	probably damaging	1.00
IGL02980:Akap1	UTSW	11	88,735,990 (GRCm39)	missense	probably benign
PIT4305001:Akap1	UTSW	11	88,735,204 (GRCm39)	missense	probably benign
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0278:Akap1	UTSW	11	88,736,020 (GRCm39)	missense	probably benign	0.19
R1437:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1438:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1439:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1569:Akap1	UTSW	11	88,724,006 (GRCm39)	missense	probably benign	0.02
R1611:Akap1	UTSW	11	88,736,104 (GRCm39)	missense	probably benign	0.27
R1757:Akap1	UTSW	11	88,736,578 (GRCm39)	missense	probably damaging	1.00
R2328:Akap1	UTSW	11	88,735,870 (GRCm39)	missense	possibly damaging	0.46
R2897:Akap1	UTSW	11	88,735,605 (GRCm39)	nonsense	probably null
R3730:Akap1	UTSW	11	88,736,008 (GRCm39)	missense	possibly damaging	0.82
R4868:Akap1	UTSW	11	88,735,379 (GRCm39)	missense	possibly damaging	0.83
R5620:Akap1	UTSW	11	88,736,343 (GRCm39)	missense	possibly damaging	0.82
R5645:Akap1	UTSW	11	88,736,453 (GRCm39)	missense	probably benign	0.01
R5886:Akap1	UTSW	11	88,725,486 (GRCm39)	critical splice donor site	probably null
R5932:Akap1	UTSW	11	88,722,585 (GRCm39)	missense	probably damaging	1.00
R6284:Akap1	UTSW	11	88,735,394 (GRCm39)	missense	possibly damaging	0.66
R6555:Akap1	UTSW	11	88,735,708 (GRCm39)	missense	probably damaging	1.00
R7234:Akap1	UTSW	11	88,729,808 (GRCm39)	missense	probably damaging	1.00
R7436:Akap1	UTSW	11	88,736,354 (GRCm39)	missense	probably damaging	1.00
R7759:Akap1	UTSW	11	88,736,659 (GRCm39)	missense	probably damaging	1.00
R8356:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8456:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8796:Akap1	UTSW	11	88,730,498 (GRCm39)	missense	probably damaging	1.00
R8948:Akap1	UTSW	11	88,735,099 (GRCm39)	missense	probably damaging	1.00
R9006:Akap1	UTSW	11	88,723,996 (GRCm39)	missense	possibly damaging	0.83
R9174:Akap1	UTSW	11	88,725,991 (GRCm39)	missense	probably damaging	1.00
R9294:Akap1	UTSW	11	88,727,966 (GRCm39)	missense	probably damaging	1.00
Z1176:Akap1	UTSW	11	88,727,993 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GTTCAATAGCACATCTAGCTTCATG -3'
(R):5'- CTGCAGTCGTGAAGAAGTGC -3'

Sequencing Primer
(F):5'- TAGCTTCATGACACTACATGGC -3'
(R):5'- CTGCAGTCGTGAAGAAGTGCATAAG -3'

Posted On

2021-12-30