Incidental Mutation 'R1823:Akap11'
ID 206598
Institutional Source Beutler Lab
Gene Symbol Akap11
Ensembl Gene ENSMUSG00000022016
Gene Name A kinase anchor protein 11
Synonyms 6330501D17Rik
MMRRC Submission 039851-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1823 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 78729686-78774248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78748928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1153 (E1153G)
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: E1153G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: E1153G

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 damaging
Transcript: ENSMUST00000123853
AA Change: E1153G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: E1153G

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
Meta Mutation Damage Score 0.2033 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,111,312 (GRCm39) V868I probably benign Het
Ahnak G T 19: 8,982,269 (GRCm39) M1184I probably damaging Het
Amy1 T C 3: 113,356,376 (GRCm39) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm39) L129P probably damaging Het
Aox1 A T 1: 58,351,518 (GRCm39) T702S probably benign Het
Apobec1 G T 6: 122,555,845 (GRCm39) T204K possibly damaging Het
Arhgef19 A G 4: 140,976,457 (GRCm39) R433G probably benign Het
Atf6b T A 17: 34,867,618 (GRCm39) H110Q possibly damaging Het
Btnl4 C T 17: 34,694,826 (GRCm39) probably null Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cbs G A 17: 31,843,245 (GRCm39) H229Y probably damaging Het
Cct8 G A 16: 87,287,442 (GRCm39) R111* probably null Het
Cdc42bpb C T 12: 111,293,993 (GRCm39) A250T probably damaging Het
Chrd A G 16: 20,560,097 (GRCm39) probably benign Het
Ckap2l A G 2: 129,117,499 (GRCm39) F559L probably damaging Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
D630003M21Rik T C 2: 158,059,477 (GRCm39) Y141C probably damaging Het
Dbf4 T C 5: 8,447,539 (GRCm39) N557S probably benign Het
Dct T G 14: 118,273,935 (GRCm39) N324T probably benign Het
Dip2a A T 10: 76,114,336 (GRCm39) L999* probably null Het
Dock10 T A 1: 80,520,814 (GRCm39) probably null Het
Dync2li1 A T 17: 84,957,225 (GRCm39) D330V probably damaging Het
Eif4g3 T A 4: 137,907,802 (GRCm39) D1267E probably benign Het
Enc1 A G 13: 97,382,486 (GRCm39) E332G possibly damaging Het
Fat2 C T 11: 55,147,606 (GRCm39) V3879I probably benign Het
Fh1 A T 1: 175,444,114 (GRCm39) I117K probably damaging Het
Fkbp15 A G 4: 62,255,328 (GRCm39) L227P probably damaging Het
Fpr1 T A 17: 18,097,315 (GRCm39) M225L probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Grm7 A G 6: 111,184,730 (GRCm39) T354A probably benign Het
Ift27 T A 15: 78,057,978 (GRCm39) I9F possibly damaging Het
Igf1r A G 7: 67,844,729 (GRCm39) D834G possibly damaging Het
Igsf9b T A 9: 27,243,028 (GRCm39) L738Q probably damaging Het
Itgam A T 7: 127,663,904 (GRCm39) T44S probably benign Het
Ivd T A 2: 118,692,515 (GRCm39) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm39) S1181P probably damaging Het
Kctd18 A G 1: 57,995,524 (GRCm39) V251A probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo18a T C 11: 77,715,923 (GRCm39) probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myocd C A 11: 65,069,496 (GRCm39) M909I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Nkpd1 G A 7: 19,257,177 (GRCm39) V319M probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or1af1 T C 2: 37,110,344 (GRCm39) V281A probably damaging Het
Or1p1c C T 11: 74,161,043 (GRCm39) A276V probably damaging Het
Or2q1 G T 6: 42,795,202 (GRCm39) A266S possibly damaging Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4c111 A G 2: 88,843,722 (GRCm39) S229P probably benign Het
Or5b101 C A 19: 13,005,181 (GRCm39) V171L probably benign Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pcdhb9 A G 18: 37,535,871 (GRCm39) T622A probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 G T 10: 3,853,658 (GRCm39) probably null Het
Plekhh2 A G 17: 84,882,617 (GRCm39) Y708C probably damaging Het
Pnp T C 14: 51,187,786 (GRCm39) F107L probably damaging Het
Postn T A 3: 54,292,708 (GRCm39) probably null Het
Prcp A T 7: 92,577,883 (GRCm39) D349V probably damaging Het
Prl3a1 A T 13: 27,454,177 (GRCm39) I52F probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,241 (GRCm39) I248N probably damaging Het
Ror2 T G 13: 53,264,341 (GRCm39) E917A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sema6d A G 2: 124,501,476 (GRCm39) probably null Het
Shisal1 T C 15: 84,290,669 (GRCm39) T213A probably benign Het
Slc4a2 C T 5: 24,632,618 (GRCm39) A12V probably damaging Het
Slco6b1 T G 1: 96,888,901 (GRCm39) noncoding transcript Het
Slf2 A T 19: 44,923,687 (GRCm39) H167L possibly damaging Het
Snx9 G T 17: 5,970,946 (GRCm39) G429V probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Spta1 T A 1: 174,074,115 (GRCm39) D2351E probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Tatdn1 C T 15: 58,788,005 (GRCm39) G171E probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tpm3-rs7 T C 14: 113,552,595 (GRCm39) L163P possibly damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Ucp1 C T 8: 84,020,661 (GRCm39) T157I probably damaging Het
Uspl1 T A 5: 149,151,224 (GRCm39) L794Q probably benign Het
Vmn1r5 T A 6: 56,962,580 (GRCm39) V85E probably damaging Het
Vmn1r58 A G 7: 5,413,405 (GRCm39) I275T possibly damaging Het
Vmn2r79 A G 7: 86,687,080 (GRCm39) I820M probably damaging Het
Wscd1 C A 11: 71,651,044 (GRCm39) P124T probably benign Het
Zfp780b A T 7: 27,662,525 (GRCm39) C677S possibly 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
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
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'- GCTGGCAGCACATTTCTTTG -3'
(R):5'- CCTTTAGTGCCATCCCAGAC -3'

Sequencing Primer
(F):5'- CTCATGATCTAAGTGGGAGGC -3'
(R):5'- AGACTAGTTCTGAATGGGACATC -3'
Posted On 2014-06-23