Mutagenetix > Incidental Mutation

Incidental Mutation 'R4618:Akap3'

345090

Institutional Source

Beutler Lab

Gene Symbol

Akap3

Ensembl Gene

ENSMUSG00000030344

Gene Name

A kinase anchor protein 3

Synonyms

MMRRC Submission

041884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126830061-126851271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126843406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 675 (C675F)

Ref Sequence

ENSEMBL: ENSMUSP00000143794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095440] [ENSMUST00000202574] [ENSMUST00000202878]

AlphaFold

O88987

Predicted Effect

probably benign
Transcript: ENSMUST00000095440
AA Change: C675F

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: C675F

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202574
AA Change: C675F

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: C675F

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202878
AA Change: C675F

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: C675F

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Adamtsl3	T	A	7: 82,255,728 (GRCm39)	M1580K	probably benign	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Asap1	A	T	15: 64,024,744 (GRCm39)	H318Q	probably damaging	Het
Atf7ip	G	T	6: 136,542,104 (GRCm39)	A18S	probably damaging	Het
Bcl2a1a	A	C	9: 88,839,357 (GRCm39)	N85T	probably damaging	Het
Btnl6	G	A	17: 34,733,120 (GRCm39)	P248S	probably damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Ccdc14	T	A	16: 34,526,865 (GRCm39)	C257S	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cstdc3	T	A	16: 36,132,952 (GRCm39)	D76E	possibly damaging	Het
Endou	C	T	15: 97,611,763 (GRCm39)	V292M	possibly damaging	Het
Fbxo36	T	C	1: 84,877,749 (GRCm39)	I137T	probably damaging	Het
Fcer1a	T	C	1: 173,050,208 (GRCm39)	I161V	possibly damaging	Het
Fsip2	A	G	2: 82,818,103 (GRCm39)	Y4612C	probably benign	Het
Gcnt2	T	A	13: 41,111,670 (GRCm39)	L353*	probably null	Het
Ghrhr	T	C	6: 55,358,739 (GRCm39)	F172S	probably damaging	Het
Gins1	T	A	2: 150,759,781 (GRCm39)		probably null	Het
Gm16519	T	G	17: 71,236,237 (GRCm39)	L62R	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Greb1l	A	G	18: 10,498,965 (GRCm39)	T283A	probably benign	Het
Grin2c	T	A	11: 115,143,573 (GRCm39)	D729V	probably damaging	Het
Heatr4	T	G	12: 84,024,841 (GRCm39)	T327P	probably damaging	Het
Hes2	A	C	4: 152,244,845 (GRCm39)	S105R	probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itih1	A	T	14: 30,651,788 (GRCm39)	D851E	probably benign	Het
Klhdc7b	A	G	15: 89,271,472 (GRCm39)	T785A	probably benign	Het
Lmbr1	G	T	5: 29,551,863 (GRCm39)	A74E	probably damaging	Het
Lonp1	A	C	17: 56,929,511 (GRCm39)	H175Q	probably benign	Het
Maml2	T	C	9: 13,531,371 (GRCm39)	F195S	probably damaging	Het
Man2b2	G	T	5: 36,974,983 (GRCm39)	T436K	probably benign	Het
Man2c1	T	C	9: 57,049,439 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,940,837 (GRCm39)		probably benign	Het
Mtrf1l	C	A	10: 5,767,586 (GRCm39)	V177F	probably benign	Het
Naxd	A	T	8: 11,559,489 (GRCm39)	I213F	probably damaging	Het
Nbeal1	T	A	1: 60,267,890 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,047 (GRCm39)	I318V	probably damaging	Het
Nid2	T	A	14: 19,858,078 (GRCm39)	I1297N	probably damaging	Het
Nol10	T	C	12: 17,398,562 (GRCm39)	V3A	probably damaging	Het
Nop14	G	T	5: 34,796,562 (GRCm39)	P765Q	probably damaging	Het
Noxa1	C	T	2: 24,981,761 (GRCm39)	G114D	probably damaging	Het
Ntmt2	A	T	1: 163,552,597 (GRCm39)	F10I	probably damaging	Het
Opa1	T	C	16: 29,405,857 (GRCm39)	W141R	probably damaging	Het
Or10a2	G	A	7: 106,673,761 (GRCm39)	C242Y	probably damaging	Het
Or13p4	A	T	4: 118,546,667 (GRCm39)		probably benign	Het
Or5d18	A	G	2: 87,864,898 (GRCm39)	V195A	probably benign	Het
Or8h10	A	G	2: 86,808,618 (GRCm39)	I174T	possibly damaging	Het
Pde4d	A	T	13: 110,070,411 (GRCm39)	M7L	probably benign	Het
Phykpl	G	A	11: 51,483,056 (GRCm39)	A188T	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pkhd1l1	T	A	15: 44,403,078 (GRCm39)	V2260D	probably damaging	Het
Ptprt	T	C	2: 161,395,765 (GRCm39)	E1136G	probably damaging	Het
Rad21	A	T	15: 51,833,420 (GRCm39)	L353Q	probably damaging	Het
Rfx4	G	T	10: 84,716,760 (GRCm39)	A425S	probably benign	Het
Rnf38	A	G	4: 44,142,450 (GRCm39)	S169P	probably damaging	Het
Samd9l	C	A	6: 3,376,347 (GRCm39)	V305F	probably damaging	Het
Serpini1	A	G	3: 75,523,883 (GRCm39)	K164E	probably benign	Het
Sirt6	A	G	10: 81,462,408 (GRCm39)	L37P	probably damaging	Het
Sorbs1	T	C	19: 40,361,962 (GRCm39)	T141A	probably damaging	Het
Tacc2	A	T	7: 130,227,946 (GRCm39)	T1563S	probably benign	Het
Tbc1d14	A	C	5: 36,687,725 (GRCm39)		probably benign	Het
Tbrg4	G	A	11: 6,570,185 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tpp1	A	T	7: 105,400,913 (GRCm39)	L38Q	probably benign	Het
Trhr	A	G	15: 44,061,037 (GRCm39)	N186D	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Tsen54	T	A	11: 115,706,247 (GRCm39)		probably benign	Het
Tsg101	A	G	7: 46,542,257 (GRCm39)	I138T	possibly damaging	Het
Usp22	A	G	11: 61,052,269 (GRCm39)	S237P	probably damaging	Het
Vmn1r209	A	G	13: 22,990,619 (GRCm39)	S24P	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,424 (GRCm39)	H233Q	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,436 (GRCm39)	I284N	probably benign	Het
Vmn2r66	T	C	7: 84,644,296 (GRCm39)	I705V	possibly damaging	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zdhhc11	T	A	13: 74,127,349 (GRCm39)	M242K	probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Akap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Akap3	APN	6	126,842,694 (GRCm39)	missense	probably benign	0.38
IGL01070:Akap3	APN	6	126,842,842 (GRCm39)	missense	possibly damaging	0.93
IGL01975:Akap3	APN	6	126,850,963 (GRCm39)	missense	probably damaging	1.00
IGL02114:Akap3	APN	6	126,842,959 (GRCm39)	missense	probably damaging	0.99
IGL02349:Akap3	APN	6	126,837,226 (GRCm39)	missense	probably benign	0.01
IGL03305:Akap3	APN	6	126,841,728 (GRCm39)	missense	probably benign
IGL03412:Akap3	APN	6	126,841,688 (GRCm39)	missense	probably benign	0.00
IGL03097:Akap3	UTSW	6	126,843,379 (GRCm39)	missense	probably damaging	1.00
P0012:Akap3	UTSW	6	126,841,564 (GRCm39)	missense	possibly damaging	0.87
R0358:Akap3	UTSW	6	126,843,775 (GRCm39)	missense	probably damaging	1.00
R1123:Akap3	UTSW	6	126,842,929 (GRCm39)	missense	probably benign	0.27
R1163:Akap3	UTSW	6	126,841,750 (GRCm39)	missense	probably damaging	1.00
R1458:Akap3	UTSW	6	126,842,517 (GRCm39)	missense	probably damaging	1.00
R1769:Akap3	UTSW	6	126,842,809 (GRCm39)	missense	possibly damaging	0.67
R1967:Akap3	UTSW	6	126,842,061 (GRCm39)	missense	probably benign	0.02
R4030:Akap3	UTSW	6	126,841,984 (GRCm39)	missense	probably damaging	1.00
R4677:Akap3	UTSW	6	126,842,226 (GRCm39)	missense	probably damaging	0.99
R4735:Akap3	UTSW	6	126,842,601 (GRCm39)	missense	probably damaging	1.00
R5660:Akap3	UTSW	6	126,842,254 (GRCm39)	missense	probably damaging	1.00
R5834:Akap3	UTSW	6	126,842,796 (GRCm39)	missense	probably benign	0.04
R5847:Akap3	UTSW	6	126,842,521 (GRCm39)	missense	probably damaging	1.00
R6053:Akap3	UTSW	6	126,843,496 (GRCm39)	missense	probably damaging	0.98
R7007:Akap3	UTSW	6	126,843,439 (GRCm39)	missense	probably damaging	0.99
R7070:Akap3	UTSW	6	126,850,987 (GRCm39)	missense	probably damaging	1.00
R7123:Akap3	UTSW	6	126,843,267 (GRCm39)	missense	probably benign	0.05
R7173:Akap3	UTSW	6	126,841,729 (GRCm39)	missense	probably benign
R7238:Akap3	UTSW	6	126,842,200 (GRCm39)	missense	probably benign	0.00
R7437:Akap3	UTSW	6	126,842,618 (GRCm39)	missense	probably damaging	1.00
R7731:Akap3	UTSW	6	126,842,031 (GRCm39)	missense	probably benign	0.04
R7737:Akap3	UTSW	6	126,851,065 (GRCm39)	missense	probably damaging	1.00
R8073:Akap3	UTSW	6	126,842,736 (GRCm39)	missense	probably damaging	1.00
R8504:Akap3	UTSW	6	126,841,493 (GRCm39)	missense	probably damaging	1.00
R8755:Akap3	UTSW	6	126,843,130 (GRCm39)	missense	possibly damaging	0.77
R9440:Akap3	UTSW	6	126,841,591 (GRCm39)	missense	probably benign	0.00
R9579:Akap3	UTSW	6	126,850,974 (GRCm39)	missense	probably damaging	1.00
R9594:Akap3	UTSW	6	126,842,377 (GRCm39)	missense	probably damaging	1.00
R9761:Akap3	UTSW	6	126,842,200 (GRCm39)	missense	probably benign	0.00
X0028:Akap3	UTSW	6	126,842,880 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGAGCAGAACACTCAGG -3'
(R):5'- CCTCTCAGTTCATTATGGATGGTG -3'

Sequencing Primer
(F):5'- CTCAGGAAGAAGAGATACACCCGTG -3'
(R):5'- TTCTGCAGGAGGGCTTCAGC -3'

Posted On

2015-09-25