Incidental Mutation 'R4857:Akap11'
ID 374093
Institutional Source Beutler Lab
Gene Symbol Akap11
Ensembl Gene ENSMUSG00000022016
Gene Name A kinase anchor protein 11
Synonyms 6330501D17Rik
MMRRC Submission 042468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4857 (G1)
Quality Score 190
Status Validated
Chromosome 14
Chromosomal Location 78729686-78774248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78736300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1830 (D1830G)
Ref Sequence ENSEMBL: ENSMUSP00000116015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022593] [ENSMUST00000123853]
AlphaFold E9Q777
Predicted Effect
SMART Domains Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: D1831G

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: D1830G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227808
Meta Mutation Damage Score 0.2970 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (115/119)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548G14Rik C T 15: 46,488,927 (GRCm39) noncoding transcript Het
Aasdh A T 5: 77,035,131 (GRCm39) F428L probably benign Het
Abca13 A G 11: 9,244,143 (GRCm39) N2002S probably benign Het
Acot7 T G 4: 152,322,211 (GRCm39) F248V possibly damaging Het
Acsf2 A G 11: 94,460,164 (GRCm39) I396T probably benign Het
Agbl1 A G 7: 76,069,583 (GRCm39) N372D probably benign Het
Ahctf1 A T 1: 179,626,922 (GRCm39) probably benign Het
Bcl7b A G 5: 135,202,033 (GRCm39) *59W probably null Het
Bdh1 A G 16: 31,266,366 (GRCm39) probably null Het
Bin3 A G 14: 70,366,344 (GRCm39) N69S probably benign Het
Bltp3b A T 10: 89,615,825 (GRCm39) N156I probably damaging Het
Bsdc1 T C 4: 129,365,685 (GRCm39) probably benign Het
Cacna1i T C 15: 80,253,863 (GRCm39) V700A probably damaging Het
Calcr T C 6: 3,708,511 (GRCm39) N225S probably benign Het
Cby2 C T 14: 75,830,478 (GRCm39) E8K probably damaging Het
Cdh23 A G 10: 60,227,563 (GRCm39) S1173P probably damaging Het
Cftr C T 6: 18,320,974 (GRCm39) T1428M possibly damaging Het
Chd1l T C 3: 97,479,975 (GRCm39) K591E probably benign Het
Chrd C T 16: 20,557,508 (GRCm39) P709L possibly damaging Het
Ckap4 T C 10: 84,369,352 (GRCm39) R127G possibly damaging Het
Cnbd2 T C 2: 156,209,485 (GRCm39) F476S probably benign Het
Dclk3 T C 9: 111,297,716 (GRCm39) V420A probably benign Het
Dnah5 A G 15: 28,345,953 (GRCm39) D2431G probably benign Het
Duox1 T A 2: 122,146,212 (GRCm39) I10N probably benign Het
Ece2 T A 16: 20,436,556 (GRCm39) V126D probably damaging Het
Elfn1 T C 5: 139,958,840 (GRCm39) Y615H probably damaging Het
Epha1 T C 6: 42,338,416 (GRCm39) D720G probably benign Het
Fras1 A G 5: 96,926,018 (GRCm39) I3741V probably benign Het
Gm53 A T 11: 96,142,562 (GRCm39) noncoding transcript Het
Grb10 G T 11: 11,901,469 (GRCm39) probably benign Het
Grid2ip A G 5: 143,368,384 (GRCm39) H568R probably damaging Het
Gsap A T 5: 21,492,797 (GRCm39) probably null Het
Gse1 T C 8: 121,299,496 (GRCm39) probably benign Het
Gstm1 T C 3: 107,923,724 (GRCm39) R94G possibly damaging Het
Gtf2ird1 A G 5: 134,391,398 (GRCm39) F866L probably damaging Het
Haao T A 17: 84,146,009 (GRCm39) probably null Het
Hcn4 A T 9: 58,766,853 (GRCm39) I805F unknown Het
Hemk1 A T 9: 107,206,647 (GRCm39) probably benign Het
Il12rb1 A T 8: 71,263,232 (GRCm39) Y33F possibly damaging Het
Il19 T A 1: 130,863,683 (GRCm39) I103F probably damaging Het
Itpr1 A G 6: 108,387,828 (GRCm39) N1522S probably benign Het
Klhdc8a A G 1: 132,230,843 (GRCm39) Y236C probably damaging Het
Klhl3 C T 13: 58,166,620 (GRCm39) G404S probably damaging Het
Large2 T C 2: 92,196,979 (GRCm39) probably benign Het
Lgi1 C A 19: 38,294,698 (GRCm39) A490E probably damaging Het
Lmbr1 A G 5: 29,528,807 (GRCm39) L112P probably damaging Het
Lmo7 T A 14: 102,124,784 (GRCm39) probably null Het
Lpin1 A C 12: 16,613,631 (GRCm39) I479S possibly damaging Het
Lrrc40 T A 3: 157,771,866 (GRCm39) probably benign Het
Lrrc9 A G 12: 72,546,466 (GRCm39) N1218S possibly damaging Het
Map3k9 A G 12: 81,771,401 (GRCm39) V729A probably benign Het
Marf1 A T 16: 13,946,475 (GRCm39) Y1215* probably null Het
Moap1 T A 12: 102,708,824 (GRCm39) I242L probably benign Het
Mpo A G 11: 87,687,107 (GRCm39) K218E probably benign Het
Mpz C T 1: 170,986,379 (GRCm39) R98C probably damaging Het
Neb T G 2: 52,091,992 (GRCm39) K5024T probably damaging Het
Nlrp4b C T 7: 10,449,225 (GRCm39) T109I probably benign Het
Noc3l T A 19: 38,781,244 (GRCm39) probably null Het
Nosip G A 7: 44,726,102 (GRCm39) V220I probably benign Het
Nyap1 A C 5: 137,733,840 (GRCm39) S398A probably damaging Het
Or12d17 A G 17: 37,777,714 (GRCm39) M206V possibly damaging Het
Or4a68 T G 2: 89,269,967 (GRCm39) I219L probably damaging Het
Or4f54 A G 2: 111,123,488 (GRCm39) N292D possibly damaging Het
Osbpl7 T C 11: 96,947,495 (GRCm39) probably benign Het
Pard3 A T 8: 128,050,535 (GRCm39) Y199F probably damaging Het
Pcdha11 G A 18: 37,144,505 (GRCm39) V199I probably benign Het
Pcdhga8 A T 18: 37,859,967 (GRCm39) N341I probably damaging Het
Pcsk4 A G 10: 80,160,873 (GRCm39) S318P probably damaging Het
Phldb1 C A 9: 44,607,389 (GRCm39) R1272L probably damaging Het
Phlpp2 A G 8: 110,603,642 (GRCm39) T103A probably damaging Het
Pibf1 T A 14: 99,423,937 (GRCm39) Y503* probably null Het
Pkn1 A T 8: 84,410,856 (GRCm39) probably null Het
Pramel22 A T 4: 143,383,158 (GRCm39) N20K possibly damaging Het
Ptprf A G 4: 118,074,394 (GRCm39) probably benign Het
Rbm19 C A 5: 120,270,898 (GRCm39) probably benign Het
Rcan1 T C 16: 92,262,794 (GRCm39) D5G possibly damaging Het
Recql5 A T 11: 115,819,038 (GRCm39) L176Q probably damaging Het
Rev3l T A 10: 39,714,455 (GRCm39) L2393Q probably damaging Het
Rp1 C A 1: 4,422,539 (GRCm39) K180N probably damaging Het
Rp1 T A 1: 4,422,540 (GRCm39) K180M probably damaging Het
Sdk1 T C 5: 142,147,531 (GRCm39) V1461A probably benign Het
Sdk2 A T 11: 113,712,208 (GRCm39) L1653* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint10 A T 4: 112,603,830 (GRCm39) V119D possibly damaging Het
Sncaip T C 18: 53,002,297 (GRCm39) S273P probably benign Het
Sp1 T G 15: 102,339,409 (GRCm39) I449S probably damaging Het
Spata31h1 T C 10: 82,119,682 (GRCm39) T4443A possibly damaging Het
Spats2 T C 15: 99,072,301 (GRCm39) L78P probably damaging Het
Stambp T A 6: 83,533,348 (GRCm39) N305I probably benign Het
Stim2 A T 5: 54,275,888 (GRCm39) S688C probably damaging Het
Sytl3 A G 17: 7,003,980 (GRCm39) N355S probably damaging Het
Taf4b C T 18: 14,937,635 (GRCm39) A236V probably null Het
Tnfaip6 A G 2: 51,941,086 (GRCm39) probably null Het
Trpc2 T A 7: 101,733,176 (GRCm39) S416T probably benign Het
Ttn T C 2: 76,569,210 (GRCm39) T27228A probably damaging Het
Ush2a T A 1: 188,269,917 (GRCm39) D1721E probably benign Het
Usp47 T A 7: 111,681,759 (GRCm39) H523Q probably damaging Het
Vmn1r8 A T 6: 57,013,338 (GRCm39) I130F probably benign Het
Vps13b A G 15: 35,456,800 (GRCm39) S749G probably benign Het
Xrcc5 C A 1: 72,365,424 (GRCm39) T283K possibly damaging Het
Ydjc A G 16: 16,966,002 (GRCm39) probably benign Het
Other mutations in Akap11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Akap11 APN 14 78,748,781 (GRCm39) missense probably damaging 1.00
IGL00902:Akap11 APN 14 78,733,278 (GRCm39) missense probably benign 0.11
IGL01752:Akap11 APN 14 78,747,318 (GRCm39) critical splice donor site probably null
IGL01972:Akap11 APN 14 78,745,297 (GRCm39) missense probably damaging 0.99
IGL02031:Akap11 APN 14 78,751,253 (GRCm39) missense possibly damaging 0.50
IGL02239:Akap11 APN 14 78,751,289 (GRCm39) missense probably damaging 1.00
IGL02528:Akap11 APN 14 78,748,307 (GRCm39) missense probably damaging 1.00
IGL02884:Akap11 APN 14 78,736,402 (GRCm39) missense probably benign 0.02
IGL03130:Akap11 APN 14 78,747,808 (GRCm39) nonsense probably null
IGL03179:Akap11 APN 14 78,745,180 (GRCm39) missense probably benign 0.00
IGL03240:Akap11 APN 14 78,733,345 (GRCm39) missense probably damaging 0.99
IGL03331:Akap11 APN 14 78,751,305 (GRCm39) missense probably damaging 1.00
bonham UTSW 14 78,736,304 (GRCm39) nonsense probably null
R0004:Akap11 UTSW 14 78,752,380 (GRCm39) missense possibly damaging 0.65
R0020:Akap11 UTSW 14 78,755,617 (GRCm39) missense probably benign 0.37
R0200:Akap11 UTSW 14 78,748,193 (GRCm39) missense probably benign 0.00
R0281:Akap11 UTSW 14 78,747,529 (GRCm39) missense possibly damaging 0.84
R0320:Akap11 UTSW 14 78,750,819 (GRCm39) missense probably benign
R0381:Akap11 UTSW 14 78,750,990 (GRCm39) missense probably benign 0.01
R0536:Akap11 UTSW 14 78,751,464 (GRCm39) missense probably damaging 1.00
R0608:Akap11 UTSW 14 78,748,193 (GRCm39) missense probably benign 0.00
R0735:Akap11 UTSW 14 78,747,518 (GRCm39) missense probably damaging 1.00
R1189:Akap11 UTSW 14 78,750,787 (GRCm39) missense probably benign 0.11
R1400:Akap11 UTSW 14 78,751,402 (GRCm39) missense probably damaging 1.00
R1406:Akap11 UTSW 14 78,750,189 (GRCm39) missense probably benign
R1406:Akap11 UTSW 14 78,750,189 (GRCm39) missense probably benign
R1501:Akap11 UTSW 14 78,750,787 (GRCm39) missense probably benign 0.11
R1588:Akap11 UTSW 14 78,747,685 (GRCm39) missense possibly damaging 0.50
R1717:Akap11 UTSW 14 78,750,788 (GRCm39) missense probably benign 0.02
R1823:Akap11 UTSW 14 78,748,928 (GRCm39) missense probably damaging 1.00
R1847:Akap11 UTSW 14 78,751,101 (GRCm39) missense probably benign 0.00
R1874:Akap11 UTSW 14 78,749,306 (GRCm39) missense probably benign 0.14
R2031:Akap11 UTSW 14 78,747,477 (GRCm39) missense possibly damaging 0.86
R2032:Akap11 UTSW 14 78,747,477 (GRCm39) missense possibly damaging 0.86
R2276:Akap11 UTSW 14 78,747,477 (GRCm39) missense possibly damaging 0.86
R2763:Akap11 UTSW 14 78,756,332 (GRCm39) missense probably damaging 0.98
R4483:Akap11 UTSW 14 78,747,699 (GRCm39) missense probably damaging 1.00
R4582:Akap11 UTSW 14 78,749,369 (GRCm39) missense possibly damaging 0.81
R4922:Akap11 UTSW 14 78,750,220 (GRCm39) nonsense probably null
R4993:Akap11 UTSW 14 78,750,408 (GRCm39) missense probably damaging 1.00
R5426:Akap11 UTSW 14 78,736,304 (GRCm39) nonsense probably null
R5472:Akap11 UTSW 14 78,750,869 (GRCm39) missense probably benign 0.03
R5683:Akap11 UTSW 14 78,750,018 (GRCm39) missense probably damaging 0.98
R5774:Akap11 UTSW 14 78,748,407 (GRCm39) missense probably damaging 1.00
R6014:Akap11 UTSW 14 78,749,939 (GRCm39) missense probably benign 0.00
R6264:Akap11 UTSW 14 78,749,861 (GRCm39) missense possibly damaging 0.68
R6270:Akap11 UTSW 14 78,756,239 (GRCm39) missense probably damaging 1.00
R6319:Akap11 UTSW 14 78,750,978 (GRCm39) missense probably benign 0.06
R6376:Akap11 UTSW 14 78,752,336 (GRCm39) missense probably damaging 1.00
R6394:Akap11 UTSW 14 78,760,029 (GRCm39) critical splice donor site probably null
R6536:Akap11 UTSW 14 78,748,754 (GRCm39) missense possibly damaging 0.81
R7048:Akap11 UTSW 14 78,749,954 (GRCm39) missense
R7147:Akap11 UTSW 14 78,748,905 (GRCm39) missense
R7473:Akap11 UTSW 14 78,751,328 (GRCm39) missense
R7503:Akap11 UTSW 14 78,749,441 (GRCm39) missense
R7542:Akap11 UTSW 14 78,747,732 (GRCm39) missense
R7618:Akap11 UTSW 14 78,736,300 (GRCm39) missense
R7679:Akap11 UTSW 14 78,752,256 (GRCm39) missense
R7973:Akap11 UTSW 14 78,752,506 (GRCm39) missense
R8094:Akap11 UTSW 14 78,750,413 (GRCm39) missense
R8098:Akap11 UTSW 14 78,750,362 (GRCm39) missense
R8226:Akap11 UTSW 14 78,748,649 (GRCm39) missense
R8269:Akap11 UTSW 14 78,750,818 (GRCm39) missense
R8304:Akap11 UTSW 14 78,750,672 (GRCm39) missense
R8343:Akap11 UTSW 14 78,749,929 (GRCm39) missense
R8389:Akap11 UTSW 14 78,756,322 (GRCm39) missense
R8824:Akap11 UTSW 14 78,753,787 (GRCm39) missense
R9034:Akap11 UTSW 14 78,748,299 (GRCm39) missense
R9189:Akap11 UTSW 14 78,750,938 (GRCm39) missense
R9259:Akap11 UTSW 14 78,749,949 (GRCm39) missense
R9275:Akap11 UTSW 14 78,751,149 (GRCm39) missense
R9434:Akap11 UTSW 14 78,747,829 (GRCm39) missense
R9500:Akap11 UTSW 14 78,748,543 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATACCTACTAACAGTATGCTTGGTGC -3'
(R):5'- GTTAAGGAAAGCATTCACTGGAATC -3'

Sequencing Primer
(F):5'- TACCTACTGGAAAGTGGCAAATC -3'
(R):5'- GAAAGCATTCACTGGAATCTTAAATC -3'
Posted On 2016-03-01