Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Akap3'

194689

Institutional Source

Beutler Lab

Gene Symbol

Akap3

Ensembl Gene

ENSMUSG00000030344

Gene Name

A kinase (PRKA) anchor protein 3

Synonyms

Akap110; Sob1; Fsp95

MMRRC Submission

039800-MU

Accession Numbers

NCBI RefSeq: NM_009650.2; MGI:1341149

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126853098-126874308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126865846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 476 (E476G)

Ref Sequence

ENSEMBL: ENSMUSP00000143794 (fasta)

Gene Model

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

AlphaFold

O88987

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095440
AA Change: E476G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: E476G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202574
AA Change: E476G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: E476G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202878
AA Change: E476G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: E476G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468		probably benign	Het
Aldh3b1	A	G	19: 3,918,740	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978	N381S	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263		probably null	Het
Clcn6	A	T	4: 148,014,301		probably null	Het
Csf3	A	G	11: 98,702,420	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109		probably benign	Het
Cyp2c69	A	G	19: 39,876,371	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251		probably benign	Het
Dhcr7	T	C	7: 143,847,513	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350		probably benign	Het
Evx2	A	G	2: 74,659,157	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762		probably benign	Het
Fhdc1	A	G	3: 84,448,778	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706		probably null	Het
Kdm4c	A	G	4: 74,280,997	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra3	T	C	6: 130,330,263		probably null	Het
Lama2	A	T	10: 27,208,406	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487		probably benign	Het
Mbd2	A	G	18: 70,616,619	I302V	probably benign	Het
Med27	A	G	2: 29,500,295	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570		probably null	Het
Miga1	T	C	3: 152,287,554	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256		probably benign	Het
Ngf	T	A	3: 102,520,197	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708		probably benign	Het
Nrip2	A	G	6: 128,408,268	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768		probably null	Het
Sgk1	C	A	10: 21,997,108		probably benign	Het
Slc1a5	G	T	7: 16,797,539	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844	P797T	probably benign	Het
Zan	T	A	5: 137,464,518	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619		probably benign	Het
Zufsp	T	C	10: 33,935,176	M291V	probably damaging	Het

Other mutations in Akap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Akap3	APN	6	126865731	missense	probably benign	0.38
IGL01070:Akap3	APN	6	126865879	missense	possibly damaging	0.93
IGL01975:Akap3	APN	6	126874000	missense	probably damaging	1.00
IGL02114:Akap3	APN	6	126865996	missense	probably damaging	0.99
IGL02349:Akap3	APN	6	126860263	missense	probably benign	0.01
IGL03305:Akap3	APN	6	126864765	missense	probably benign
IGL03412:Akap3	APN	6	126864725	missense	probably benign	0.00
IGL03097:Akap3	UTSW	6	126866416	missense	probably damaging	1.00
P0012:Akap3	UTSW	6	126864601	missense	possibly damaging	0.87
R0358:Akap3	UTSW	6	126866812	missense	probably damaging	1.00
R1123:Akap3	UTSW	6	126865966	missense	probably benign	0.27
R1163:Akap3	UTSW	6	126864787	missense	probably damaging	1.00
R1458:Akap3	UTSW	6	126865554	missense	probably damaging	1.00
R1967:Akap3	UTSW	6	126865098	missense	probably benign	0.02
R4030:Akap3	UTSW	6	126865021	missense	probably damaging	1.00
R4618:Akap3	UTSW	6	126866443	missense	probably benign	0.31
R4677:Akap3	UTSW	6	126865263	missense	probably damaging	0.99
R4735:Akap3	UTSW	6	126865638	missense	probably damaging	1.00
R5660:Akap3	UTSW	6	126865291	missense	probably damaging	1.00
R5834:Akap3	UTSW	6	126865833	missense	probably benign	0.04
R5847:Akap3	UTSW	6	126865558	missense	probably damaging	1.00
R6053:Akap3	UTSW	6	126866533	missense	probably damaging	0.98
R7007:Akap3	UTSW	6	126866476	missense	probably damaging	0.99
R7070:Akap3	UTSW	6	126874024	missense	probably damaging	1.00
R7123:Akap3	UTSW	6	126866304	missense	probably benign	0.05
R7173:Akap3	UTSW	6	126864766	missense	probably benign
R7238:Akap3	UTSW	6	126865237	missense	probably benign	0.00
R7437:Akap3	UTSW	6	126865655	missense	probably damaging	1.00
R7731:Akap3	UTSW	6	126865068	missense	probably benign	0.04
R7737:Akap3	UTSW	6	126874102	missense	probably damaging	1.00
R8073:Akap3	UTSW	6	126865773	missense	probably damaging	1.00
R8504:Akap3	UTSW	6	126864530	missense	probably damaging	1.00
R8755:Akap3	UTSW	6	126866167	missense	possibly damaging	0.77
R9440:Akap3	UTSW	6	126864628	missense	probably benign	0.00
R9579:Akap3	UTSW	6	126874011	missense	probably damaging	1.00
R9594:Akap3	UTSW	6	126865414	missense	probably damaging	1.00
R9761:Akap3	UTSW	6	126865237	missense	probably benign	0.00
X0028:Akap3	UTSW	6	126865917	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCCTTATCTCCACGAAATCACGG -3'
(R):5'- TCCAGGAAGCTCTGAGCATCCATC -3'

Sequencing Primer
(F):5'- CTGGTGACCCAAAGCTCTC -3'
(R):5'- CTGTGCCAGGTGATACTGAATC -3'

Posted On

2014-05-23