Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Akap3'

100610

Institutional Source

Beutler Lab

Gene Symbol

Akap3

Ensembl Gene

ENSMUSG00000030344

Gene Name

A kinase anchor protein 3

Synonyms

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126830061-126851271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126841750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000143794 (fasta)

Gene Model

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

AlphaFold

O88987

Predicted Effect

probably damaging
Transcript: ENSMUST00000095440
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: D123G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202574
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: D123G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202878
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: D123G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Casr	A	T	16: 36,315,169 (GRCm39)	V967D	probably damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,946,598 (GRCm39)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Krt1	C	A	15: 101,756,600 (GRCm39)	E308*	probably null	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5ac24	A	T	16: 59,165,425 (GRCm39)	I213N	probably damaging	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Rnf43	C	G	11: 87,620,339 (GRCm39)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	probably damaging	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
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
R4618:Akap3	UTSW	6	126,843,406 (GRCm39)	missense	probably benign	0.31
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

Posted On

2014-01-15