Incidental Mutation 'R0200:Akap11'
ID 23598
Institutional Source Beutler Lab
Gene Symbol Akap11
Ensembl Gene ENSMUSG00000022016
Gene Name A kinase anchor protein 11
Synonyms 6330501D17Rik
MMRRC Submission 038457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0200 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 78729686-78774248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78748193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1398 (V1398A)
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: V1398A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: V1398A

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 probably benign
Transcript: ENSMUST00000123853
AA Change: V1398A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: V1398A

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,336,502 (GRCm39) K466E probably damaging Het
Abcc3 T C 11: 94,245,900 (GRCm39) D1245G probably damaging Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Ank1 T G 8: 23,586,828 (GRCm39) L461R probably damaging Het
Ankfn1 T C 11: 89,332,792 (GRCm39) S402G possibly damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atp2b1 C T 10: 98,815,676 (GRCm39) Q107* probably null Het
Cacng3 T A 7: 122,271,008 (GRCm39) C4* probably null Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cecr2 T G 6: 120,738,758 (GRCm39) F1162V probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chrm5 A G 2: 112,311,065 (GRCm39) V17A probably benign Het
Col20a1 T C 2: 180,642,231 (GRCm39) I714T probably damaging Het
Cpeb2 T A 5: 43,419,119 (GRCm39) M156K possibly damaging Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Defb25 C A 2: 152,464,332 (GRCm39) V71L probably benign Het
Dhx35 A T 2: 158,671,543 (GRCm39) M325L probably benign Het
Dhx57 A T 17: 80,558,902 (GRCm39) L1019H probably damaging Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Dpm1 C A 2: 168,065,075 (GRCm39) probably null Het
Dsg1a A T 18: 20,473,995 (GRCm39) M1023L probably benign Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Foxn1 T C 11: 78,251,866 (GRCm39) Y455C probably damaging Het
Iars1 A T 13: 49,879,678 (GRCm39) D983V possibly damaging Het
Ikzf4 C A 10: 128,470,545 (GRCm39) G325V probably damaging Het
Il1rl1 T A 1: 40,480,463 (GRCm39) W31R possibly damaging Het
Ip6k3 C T 17: 27,363,999 (GRCm39) D350N probably damaging Het
Irgc T C 7: 24,131,431 (GRCm39) D462G probably benign Het
Itprid1 T C 6: 55,874,941 (GRCm39) L297P probably benign Het
Jph3 A G 8: 122,511,572 (GRCm39) E520G probably benign Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Klk4 T A 7: 43,534,785 (GRCm39) I248N probably damaging Het
Krtap16-1 T C 11: 99,876,123 (GRCm39) Y427C probably damaging Het
Lgr4 A G 2: 109,801,035 (GRCm39) probably null Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lypd3 T A 7: 24,339,656 (GRCm39) V241D probably damaging Het
Lyz2 T A 10: 117,116,678 (GRCm39) N57Y possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mcm4 G A 16: 15,447,503 (GRCm39) T487I probably benign Het
Mettl21c T A 1: 44,052,814 (GRCm39) I68F probably damaging Het
Miip T A 4: 147,946,720 (GRCm39) T313S probably damaging Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mog A T 17: 37,323,311 (GRCm39) I209K probably damaging Het
Myo1c C A 11: 75,563,008 (GRCm39) D997E probably benign Het
Npc1 T C 18: 12,352,261 (GRCm39) Y146C probably damaging Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Opa1 A G 16: 29,432,947 (GRCm39) N544S probably benign Het
Or2j6 T C 7: 139,980,788 (GRCm39) Y57C probably damaging Het
Or2v1 T A 11: 49,025,874 (GRCm39) M285K probably damaging Het
Or6k6 T C 1: 173,945,078 (GRCm39) H168R probably benign Het
Pam C T 1: 97,822,126 (GRCm39) probably null Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Plxdc1 T C 11: 97,824,838 (GRCm39) Y339C probably damaging Het
Plxna1 T C 6: 89,300,575 (GRCm39) N1583S probably damaging Het
Plxna4 C T 6: 32,174,023 (GRCm39) V1191M probably damaging Het
Polk T A 13: 96,633,330 (GRCm39) N238Y probably benign Het
Ptprq T C 10: 107,521,018 (GRCm39) N718S probably benign Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Scmh1 A G 4: 120,341,028 (GRCm39) K238R probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Slc12a4 T C 8: 106,678,249 (GRCm39) R315G probably benign Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc28a2b T A 2: 122,357,928 (GRCm39) *661R probably null Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spata7 T A 12: 98,629,428 (GRCm39) S332T probably benign Het
Spsb1 A G 4: 149,982,673 (GRCm39) *274R probably null Het
Sspo T G 6: 48,463,349 (GRCm39) V3767G probably null Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Tgm6 T A 2: 129,994,865 (GRCm39) probably null Het
Them7 A C 2: 105,128,262 (GRCm39) N81T probably damaging Het
Tinag C A 9: 76,859,217 (GRCm39) A464S probably damaging Het
Tmem217 T G 17: 29,745,284 (GRCm39) I149L probably benign Het
Trp53rkb T G 2: 166,637,603 (GRCm39) D186E probably damaging Het
Vmn1r20 T C 6: 57,409,084 (GRCm39) Y137H probably damaging Het
Vmn1r60 T A 7: 5,547,379 (GRCm39) L240F probably benign Het
Vmn1r64 A G 7: 5,886,817 (GRCm39) M242T probably benign Het
Xkr4 T C 1: 3,740,886 (GRCm39) N229S probably benign Het
Zcchc2 T A 1: 105,931,853 (GRCm39) L352M probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp638 T C 6: 83,944,336 (GRCm39) L1018P probably damaging 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
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
R4857:Akap11 UTSW 14 78,736,300 (GRCm39) missense
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'- TGGCAAGTCAACTTTAGGTGCTGTG -3'
(R):5'- TGTGCTGCCAGCTTTAAGTCATTCC -3'

Sequencing Primer
(F):5'- CAACTTTAGGTGCTGTGAGCTG -3'
(R):5'- GTTATTCAGGTGCTCCAACAG -3'
Posted On 2013-04-16