Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Akap11'

507295

Institutional Source

Beutler Lab

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase (PRKA) anchor protein 11

Synonyms

6330501D17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78492246-78536808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78518799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 53 (E53G)

Ref Sequence

ENSEMBL: ENSMUSP00000116015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022593] [ENSMUST00000123853]

AlphaFold

E9Q777

Predicted Effect

probably damaging
Transcript: ENSMUST00000022593
AA Change: E53G

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

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: E53G

Domain	Start	End	E-Value	Type
low complexity region	108	121	N/A	INTRINSIC
low complexity region	170	179	N/A	INTRINSIC
low complexity region	265	275	N/A	INTRINSIC
low complexity region	302	318	N/A	INTRINSIC
low complexity region	344	365	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	609	623	N/A	INTRINSIC
low complexity region	727	741	N/A	INTRINSIC
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1597	1614	N/A	INTRINSIC
low complexity region	1631	1648	N/A	INTRINSIC
low complexity region	1738	1755	N/A	INTRINSIC
low complexity region	1767	1788	N/A	INTRINSIC
Blast:AKAP_110	1790	1883	2e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000123853
AA Change: E53G

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

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: E53G

Domain	Start	End	E-Value	Type
low complexity region	108	121	N/A	INTRINSIC
low complexity region	170	179	N/A	INTRINSIC
low complexity region	265	275	N/A	INTRINSIC
low complexity region	302	318	N/A	INTRINSIC
low complexity region	344	365	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	609	623	N/A	INTRINSIC
low complexity region	727	741	N/A	INTRINSIC
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1597	1614	N/A	INTRINSIC
low complexity region	1631	1648	N/A	INTRINSIC
low complexity region	1731	1756	N/A	INTRINSIC
low complexity region	1768	1789	N/A	INTRINSIC
Blast:AKAP_110	1791	1884	2e-8	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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 is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,421	D65G	probably damaging	Het
Acsl6	A	G	11: 54,352,107	E648G	probably benign	Het
Ak7	A	G	12: 105,768,701	H642R	probably benign	Het
Ddr2	T	G	1: 169,988,540	T533P	probably benign	Het
Dhx40	A	G	11: 86,799,605	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,392,269		probably benign	Het
Eng	A	G	2: 32,673,643	D347G	probably benign	Het
Esrra	C	T	19: 6,914,120		probably null	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fap	T	C	2: 62,547,788	I159V	probably damaging	Het
Fn1	C	T	1: 71,637,275	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,757,463	V395A	probably damaging	Het
Foxn3	T	C	12: 99,388,417	R163G	probably damaging	Het
Gphn	T	G	12: 78,522,950	L306R	probably benign	Het
Gse1	T	C	8: 120,569,163		probably benign	Het
Habp2	A	G	19: 56,306,863	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,808,495		probably null	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Kit	A	G	5: 75,609,509	T194A	probably benign	Het
Krt16	C	A	11: 100,247,203	A316S	possibly damaging	Het
Krt7	A	G	15: 101,419,558	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,273,351	Y77*	probably null	Het
Lrrc18	A	T	14: 33,009,121	M206L	probably benign	Het
Magel2	C	A	7: 62,380,658	C1103*	probably null	Het
Mcf2l	T	C	8: 13,018,701	V1058A	probably damaging	Het
Nbas	G	A	12: 13,324,293	A541T	probably damaging	Het
Nrap	C	T	19: 56,320,198	M1485I	probably benign	Het
Nudt18	T	C	14: 70,579,390	Y145H	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,419	C97S	probably damaging	Het
Olfr583	T	C	7: 103,051,331	L11P	probably benign	Het
Olfr623	T	C	7: 103,660,413	Y279C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,436,785	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,158,436	W431R	probably damaging	Het
Pga5	T	C	19: 10,674,861	E139G	probably benign	Het
Pkdrej	G	T	15: 85,821,105	S210*	probably null	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Sema3d	A	T	5: 12,448,107	M27L	probably benign	Het
Serinc5	T	C	13: 92,688,662	S200P	probably damaging	Het
Sf3b3	T	C	8: 110,841,820	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,517,554		probably null	Het
Tcaf3	T	C	6: 42,593,791	I342M	probably benign	Het
Tenm3	G	A	8: 48,367,394	T136M	probably damaging	Het
Tet3	T	C	6: 83,375,791	T1008A	possibly damaging	Het
Tgif1	T	C	17: 70,844,866		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,649,866	D81G	probably benign	Het
Trpv5	T	A	6: 41,674,359	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,800,388	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,194,325	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,293,815	I847V	probably benign	Het
Zfp474	A	G	18: 52,638,364	T30A	probably benign	Het
Zswim4	C	T	8: 84,230,951	V163M	probably damaging	Het

Other mutations in Akap11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Akap11	APN	14	78511341	missense	probably damaging	1.00
IGL00902:Akap11	APN	14	78495838	missense	probably benign	0.11
IGL01752:Akap11	APN	14	78509878	critical splice donor site	probably null
IGL01972:Akap11	APN	14	78507857	missense	probably damaging	0.99
IGL02031:Akap11	APN	14	78513813	missense	possibly damaging	0.50
IGL02239:Akap11	APN	14	78513849	missense	probably damaging	1.00
IGL02528:Akap11	APN	14	78510867	missense	probably damaging	1.00
IGL02884:Akap11	APN	14	78498962	missense	probably benign	0.02
IGL03130:Akap11	APN	14	78510368	nonsense	probably null
IGL03179:Akap11	APN	14	78507740	missense	probably benign	0.00
IGL03240:Akap11	APN	14	78495905	missense	probably damaging	0.99
IGL03331:Akap11	APN	14	78513865	missense	probably damaging	1.00
bonham	UTSW	14	78498864	nonsense	probably null
R0004:Akap11	UTSW	14	78514940	missense	possibly damaging	0.65
R0020:Akap11	UTSW	14	78518177	missense	probably benign	0.37
R0200:Akap11	UTSW	14	78510753	missense	probably benign	0.00
R0281:Akap11	UTSW	14	78510089	missense	possibly damaging	0.84
R0320:Akap11	UTSW	14	78513379	missense	probably benign
R0381:Akap11	UTSW	14	78513550	missense	probably benign	0.01
R0536:Akap11	UTSW	14	78514024	missense	probably damaging	1.00
R0608:Akap11	UTSW	14	78510753	missense	probably benign	0.00
R0735:Akap11	UTSW	14	78510078	missense	probably damaging	1.00
R1189:Akap11	UTSW	14	78513347	missense	probably benign	0.11
R1400:Akap11	UTSW	14	78513962	missense	probably damaging	1.00
R1406:Akap11	UTSW	14	78512749	missense	probably benign
R1406:Akap11	UTSW	14	78512749	missense	probably benign
R1501:Akap11	UTSW	14	78513347	missense	probably benign	0.11
R1588:Akap11	UTSW	14	78510245	missense	possibly damaging	0.50
R1717:Akap11	UTSW	14	78513348	missense	probably benign	0.02
R1823:Akap11	UTSW	14	78511488	missense	probably damaging	1.00
R1847:Akap11	UTSW	14	78513661	missense	probably benign	0.00
R1874:Akap11	UTSW	14	78511866	missense	probably benign	0.14
R2031:Akap11	UTSW	14	78510037	missense	possibly damaging	0.86
R2032:Akap11	UTSW	14	78510037	missense	possibly damaging	0.86
R2276:Akap11	UTSW	14	78510037	missense	possibly damaging	0.86
R2763:Akap11	UTSW	14	78518892	missense	probably damaging	0.98
R4483:Akap11	UTSW	14	78510259	missense	probably damaging	1.00
R4582:Akap11	UTSW	14	78511929	missense	possibly damaging	0.81
R4857:Akap11	UTSW	14	78498860	missense
R4922:Akap11	UTSW	14	78512780	nonsense	probably null
R4993:Akap11	UTSW	14	78512968	missense	probably damaging	1.00
R5426:Akap11	UTSW	14	78498864	nonsense	probably null
R5472:Akap11	UTSW	14	78513429	missense	probably benign	0.03
R5683:Akap11	UTSW	14	78512578	missense	probably damaging	0.98
R5774:Akap11	UTSW	14	78510967	missense	probably damaging	1.00
R6014:Akap11	UTSW	14	78512499	missense	probably benign	0.00
R6264:Akap11	UTSW	14	78512421	missense	possibly damaging	0.68
R6319:Akap11	UTSW	14	78513538	missense	probably benign	0.06
R6376:Akap11	UTSW	14	78514896	missense	probably damaging	1.00
R6394:Akap11	UTSW	14	78522589	critical splice donor site	probably null
R6536:Akap11	UTSW	14	78511314	missense	possibly damaging	0.81
R7048:Akap11	UTSW	14	78512514	missense
R7147:Akap11	UTSW	14	78511465	missense
R7473:Akap11	UTSW	14	78513888	missense
R7503:Akap11	UTSW	14	78512001	missense
R7542:Akap11	UTSW	14	78510292	missense
R7618:Akap11	UTSW	14	78498860	missense
R7679:Akap11	UTSW	14	78514816	missense
R7973:Akap11	UTSW	14	78515066	missense
R8094:Akap11	UTSW	14	78512973	missense
R8098:Akap11	UTSW	14	78512922	missense
R8226:Akap11	UTSW	14	78511209	missense
R8269:Akap11	UTSW	14	78513378	missense
R8304:Akap11	UTSW	14	78513232	missense
R8343:Akap11	UTSW	14	78512489	missense
R8389:Akap11	UTSW	14	78518882	missense
R8824:Akap11	UTSW	14	78516347	missense
R9034:Akap11	UTSW	14	78510859	missense
R9189:Akap11	UTSW	14	78513498	missense
R9259:Akap11	UTSW	14	78512509	missense
R9275:Akap11	UTSW	14	78513709	missense
R9434:Akap11	UTSW	14	78510389	missense
R9500:Akap11	UTSW	14	78511103	missense

Predicted Primers

PCR Primer
(F):5'- ATAGATGCCTTCAGCCTGC -3'
(R):5'- CTCAGCAGAATTGAGCTTAACAG -3'

Sequencing Primer
(F):5'- TCTTGGAGCACGGTCAACCTAC -3'
(R):5'- TGGTGAATGAGTAACTGTAAAACTC -3'

Posted On

2018-03-15