Incidental Mutation 'R1717:Akap11'
ID 191160
Institutional Source Beutler Lab
Gene Symbol Akap11
Ensembl Gene ENSMUSG00000022016
Gene Name A kinase anchor protein 11
Synonyms 6330501D17Rik
MMRRC Submission 039750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 78729686-78774248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78750788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 533 (S533I)
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: S533I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: S533I

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: S533I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: S533I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
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
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P 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
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
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'- TTCAGCAAGGTCCGCAGCAAAC -3'
(R):5'- GTCACCTGTCTGATGCTCCAGATTC -3'

Sequencing Primer
(F):5'- GGCATTTGATAAGGCATCACTCAC -3'
(R):5'- AAGCTGTACTCCTGCTGAATG -3'
Posted On 2014-05-14