Incidental Mutation 'R1400:Akap11'
ID 160351
Institutional Source Beutler Lab
Gene Symbol Akap11
Ensembl Gene ENSMUSG00000022016
Gene Name A kinase anchor protein 11
Synonyms 6330501D17Rik
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1400 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 78729686-78774248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78751402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 328 (K328N)
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: K328N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: K328N

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: K328N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: K328N

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H 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
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'- TGGAAGAGCTGGACGCTCAAAC -3'
(R):5'- GCAAGGAAGCTGCTTCTGTGAAAAC -3'

Sequencing Primer
(F):5'- GGACGCTCAAACTTGAATTTCTG -3'
(R):5'- GCTGCTTCTGTGAAAACATCTG -3'
Posted On 2014-03-14