Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Akap11'

211086

Institutional Source

Beutler Lab

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase (PRKA) anchor protein 11

Synonyms

6330501D17Rik

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78492246-78536808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78511866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1027 (D1027V)

Ref Sequence

ENSEMBL: ENSMUSP00000116015 (fasta)

Gene Model

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

AlphaFold

E9Q777

Predicted Effect

probably benign
Transcript: ENSMUST00000022593
AA Change: D1027V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: D1027V

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 benign
Transcript: ENSMUST00000123853
AA Change: D1027V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: D1027V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227722

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691 (GRCm38)	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563 (GRCm38)	R286L	probably damaging	Het
Ank3	A	T	10: 69,898,083 (GRCm38)	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931 (GRCm38)	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556 (GRCm38)	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872 (GRCm38)	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526 (GRCm38)	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178 (GRCm38)	T369S	probably benign	Het
Blm	A	G	7: 80,497,418 (GRCm38)	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840 (GRCm38)	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202 (GRCm38)		probably benign	Het
Brd8	G	C	18: 34,610,474 (GRCm38)	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583 (GRCm38)	M587L	probably benign	Het
Casz1	C	G	4: 148,943,211 (GRCm38)	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,436,818 (GRCm38)	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838 (GRCm38)	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816 (GRCm38)	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585 (GRCm38)		probably null	Het
Coprs	A	G	8: 13,885,112 (GRCm38)	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382 (GRCm38)	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834 (GRCm38)	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,504,107 (GRCm38)	E24G	possibly damaging	Het
Cubn	T	A	2: 13,323,002 (GRCm38)	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324 (GRCm38)	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595 (GRCm38)	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313 (GRCm38)		probably benign	Het
Eml6	T	G	11: 29,831,136 (GRCm38)	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223 (GRCm38)	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111 (GRCm38)	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414 (GRCm38)		probably null	Het
Fga	A	T	3: 83,032,721 (GRCm38)	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921 (GRCm38)	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231 (GRCm38)	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021 (GRCm38)	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515 (GRCm38)	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049 (GRCm38)	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553 (GRCm38)	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156 (GRCm38)		probably benign	Het
Grk6	T	C	13: 55,450,273 (GRCm38)	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265 (GRCm38)	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695 (GRCm38)	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993 (GRCm38)	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853 (GRCm38)		probably null	Het
Kif1b	C	T	4: 149,187,632 (GRCm38)	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619 (GRCm38)	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051 (GRCm38)	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190 (GRCm38)	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513 (GRCm38)		probably null	Het
Mndal	G	A	1: 173,860,367 (GRCm38)		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994 (GRCm38)	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179 (GRCm38)	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116 (GRCm38)	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743 (GRCm38)	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844 (GRCm38)	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579 (GRCm38)	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493 (GRCm38)	I247L	probably benign	Het
Oprm1	A	G	10: 6,789,035 (GRCm38)	H54R	probably benign	Het
Or10g6	T	A	9: 40,022,855 (GRCm38)	I154N	possibly damaging	Het
Or2n1d	C	T	17: 38,335,969 (GRCm38)	P271S	probably damaging	Het
Or51a43	T	C	7: 104,068,129 (GRCm38)	I301V	probably null	Het
P4hb	C	T	11: 120,562,166 (GRCm38)	D483N	probably benign	Het
Pak1	T	C	7: 97,871,580 (GRCm38)	S149P	probably benign	Het
Pars2	T	C	4: 106,653,716 (GRCm38)	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945 (GRCm38)	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233 (GRCm38)	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389 (GRCm38)	V189L	probably benign	Het
Pole	G	A	5: 110,323,664 (GRCm38)	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,654,805 (GRCm38)	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348 (GRCm38)	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816 (GRCm38)	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755 (GRCm38)	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990 (GRCm38)	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639 (GRCm38)	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006 (GRCm38)	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145 (GRCm38)	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956 (GRCm38)	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699 (GRCm38)	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963 (GRCm38)		probably null	Het
Sirt5	C	T	13: 43,370,791 (GRCm38)	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398 (GRCm38)		probably benign	Het
Slx4	A	G	16: 3,986,848 (GRCm38)	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681 (GRCm38)	T43A	probably benign	Het
Speg	T	C	1: 75,423,906 (GRCm38)	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506 (GRCm38)		probably benign	Het
Stk32a	A	G	18: 43,261,316 (GRCm38)	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110 (GRCm38)	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435 (GRCm38)	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253 (GRCm38)	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564 (GRCm38)	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084 (GRCm38)	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087 (GRCm38)	T7S	probably damaging	Het
Tut4	T	A	4: 108,550,725 (GRCm38)	V1397D	probably damaging	Het
Ube4b	A	G	4: 149,347,971 (GRCm38)	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048 (GRCm38)	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351 (GRCm38)	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418 (GRCm38)	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112 (GRCm38)	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495 (GRCm38)	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372 (GRCm38)	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347 (GRCm38)	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504 (GRCm38)	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296 (GRCm38)	A26E	unknown	Het
Zfp955b	T	C	17: 33,305,453 (GRCm38)	I47V	probably benign	Het

Other mutations in Akap11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Akap11	APN	14	78,511,341 (GRCm38)	missense	probably damaging	1.00
IGL00902:Akap11	APN	14	78,495,838 (GRCm38)	missense	probably benign	0.11
IGL01752:Akap11	APN	14	78,509,878 (GRCm38)	critical splice donor site	probably null
IGL01972:Akap11	APN	14	78,507,857 (GRCm38)	missense	probably damaging	0.99
IGL02031:Akap11	APN	14	78,513,813 (GRCm38)	missense	possibly damaging	0.50
IGL02239:Akap11	APN	14	78,513,849 (GRCm38)	missense	probably damaging	1.00
IGL02528:Akap11	APN	14	78,510,867 (GRCm38)	missense	probably damaging	1.00
IGL02884:Akap11	APN	14	78,498,962 (GRCm38)	missense	probably benign	0.02
IGL03130:Akap11	APN	14	78,510,368 (GRCm38)	nonsense	probably null
IGL03179:Akap11	APN	14	78,507,740 (GRCm38)	missense	probably benign	0.00
IGL03240:Akap11	APN	14	78,495,905 (GRCm38)	missense	probably damaging	0.99
IGL03331:Akap11	APN	14	78,513,865 (GRCm38)	missense	probably damaging	1.00
bonham	UTSW	14	78,498,864 (GRCm38)	nonsense	probably null
R0004:Akap11	UTSW	14	78,514,940 (GRCm38)	missense	possibly damaging	0.65
R0020:Akap11	UTSW	14	78,518,177 (GRCm38)	missense	probably benign	0.37
R0200:Akap11	UTSW	14	78,510,753 (GRCm38)	missense	probably benign	0.00
R0281:Akap11	UTSW	14	78,510,089 (GRCm38)	missense	possibly damaging	0.84
R0320:Akap11	UTSW	14	78,513,379 (GRCm38)	missense	probably benign
R0381:Akap11	UTSW	14	78,513,550 (GRCm38)	missense	probably benign	0.01
R0536:Akap11	UTSW	14	78,514,024 (GRCm38)	missense	probably damaging	1.00
R0608:Akap11	UTSW	14	78,510,753 (GRCm38)	missense	probably benign	0.00
R0735:Akap11	UTSW	14	78,510,078 (GRCm38)	missense	probably damaging	1.00
R1189:Akap11	UTSW	14	78,513,347 (GRCm38)	missense	probably benign	0.11
R1400:Akap11	UTSW	14	78,513,962 (GRCm38)	missense	probably damaging	1.00
R1406:Akap11	UTSW	14	78,512,749 (GRCm38)	missense	probably benign
R1406:Akap11	UTSW	14	78,512,749 (GRCm38)	missense	probably benign
R1501:Akap11	UTSW	14	78,513,347 (GRCm38)	missense	probably benign	0.11
R1588:Akap11	UTSW	14	78,510,245 (GRCm38)	missense	possibly damaging	0.50
R1717:Akap11	UTSW	14	78,513,348 (GRCm38)	missense	probably benign	0.02
R1823:Akap11	UTSW	14	78,511,488 (GRCm38)	missense	probably damaging	1.00
R1847:Akap11	UTSW	14	78,513,661 (GRCm38)	missense	probably benign	0.00
R2031:Akap11	UTSW	14	78,510,037 (GRCm38)	missense	possibly damaging	0.86
R2032:Akap11	UTSW	14	78,510,037 (GRCm38)	missense	possibly damaging	0.86
R2276:Akap11	UTSW	14	78,510,037 (GRCm38)	missense	possibly damaging	0.86
R2763:Akap11	UTSW	14	78,518,892 (GRCm38)	missense	probably damaging	0.98
R4483:Akap11	UTSW	14	78,510,259 (GRCm38)	missense	probably damaging	1.00
R4582:Akap11	UTSW	14	78,511,929 (GRCm38)	missense	possibly damaging	0.81
R4857:Akap11	UTSW	14	78,498,860 (GRCm38)	missense
R4922:Akap11	UTSW	14	78,512,780 (GRCm38)	nonsense	probably null
R4993:Akap11	UTSW	14	78,512,968 (GRCm38)	missense	probably damaging	1.00
R5426:Akap11	UTSW	14	78,498,864 (GRCm38)	nonsense	probably null
R5472:Akap11	UTSW	14	78,513,429 (GRCm38)	missense	probably benign	0.03
R5683:Akap11	UTSW	14	78,512,578 (GRCm38)	missense	probably damaging	0.98
R5774:Akap11	UTSW	14	78,510,967 (GRCm38)	missense	probably damaging	1.00
R6014:Akap11	UTSW	14	78,512,499 (GRCm38)	missense	probably benign	0.00
R6264:Akap11	UTSW	14	78,512,421 (GRCm38)	missense	possibly damaging	0.68
R6270:Akap11	UTSW	14	78,518,799 (GRCm38)	missense	probably damaging	1.00
R6319:Akap11	UTSW	14	78,513,538 (GRCm38)	missense	probably benign	0.06
R6376:Akap11	UTSW	14	78,514,896 (GRCm38)	missense	probably damaging	1.00
R6394:Akap11	UTSW	14	78,522,589 (GRCm38)	critical splice donor site	probably null
R6536:Akap11	UTSW	14	78,511,314 (GRCm38)	missense	possibly damaging	0.81
R7048:Akap11	UTSW	14	78,512,514 (GRCm38)	missense
R7147:Akap11	UTSW	14	78,511,465 (GRCm38)	missense
R7473:Akap11	UTSW	14	78,513,888 (GRCm38)	missense
R7503:Akap11	UTSW	14	78,512,001 (GRCm38)	missense
R7542:Akap11	UTSW	14	78,510,292 (GRCm38)	missense
R7618:Akap11	UTSW	14	78,498,860 (GRCm38)	missense
R7679:Akap11	UTSW	14	78,514,816 (GRCm38)	missense
R7973:Akap11	UTSW	14	78,515,066 (GRCm38)	missense
R8094:Akap11	UTSW	14	78,512,973 (GRCm38)	missense
R8098:Akap11	UTSW	14	78,512,922 (GRCm38)	missense
R8226:Akap11	UTSW	14	78,511,209 (GRCm38)	missense
R8269:Akap11	UTSW	14	78,513,378 (GRCm38)	missense
R8304:Akap11	UTSW	14	78,513,232 (GRCm38)	missense
R8343:Akap11	UTSW	14	78,512,489 (GRCm38)	missense
R8389:Akap11	UTSW	14	78,518,882 (GRCm38)	missense
R8824:Akap11	UTSW	14	78,516,347 (GRCm38)	missense
R9034:Akap11	UTSW	14	78,510,859 (GRCm38)	missense
R9189:Akap11	UTSW	14	78,513,498 (GRCm38)	missense
R9259:Akap11	UTSW	14	78,512,509 (GRCm38)	missense
R9275:Akap11	UTSW	14	78,513,709 (GRCm38)	missense
R9434:Akap11	UTSW	14	78,510,389 (GRCm38)	missense
R9500:Akap11	UTSW	14	78,511,103 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CTAGTCTGGGATGGCACTAAAGG -3'
(R):5'- AATCACAGATGACCTTGGGG -3'

Sequencing Primer
(F):5'- ATCAGGTATTACATTTCTGTCTCGG -3'
(R):5'- CAGATGACCTTGGGGGAAACTC -3'

Posted On

2014-06-30