Incidental Mutation 'R1974:Akap4'
ID 221501
Institutional Source Beutler Lab
Gene Symbol Akap4
Ensembl Gene ENSMUSG00000050089
Gene Name A kinase anchor protein 4
Synonyms Fsc1
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1974 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 6933758-6944848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6943595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 633 (S633G)
Ref Sequence ENSEMBL: ENSMUSP00000111417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057101] [ENSMUST00000115750] [ENSMUST00000115751]
AlphaFold Q60662
Predicted Effect probably benign
Transcript: ENSMUST00000057101
AA Change: S642G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050962
Gene: ENSMUSG00000050089
AA Change: S642G

DomainStartEndE-ValueType
AKAP_110 14 849 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115750
AA Change: S633G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111416
Gene: ENSMUSG00000050089
AA Change: S633G

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115751
AA Change: S633G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111417
Gene: ENSMUSG00000050089
AA Change: S633G

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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 localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus results in male infertility due to impaired sperm motility. Heterozygous mutant females show no reproductive defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Other mutations in Akap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Akap4 APN X 6,942,729 (GRCm39) missense possibly damaging 0.96
IGL00510:Akap4 APN X 6,942,863 (GRCm39) missense probably damaging 1.00
IGL01101:Akap4 APN X 6,942,423 (GRCm39) missense probably benign 0.15
IGL02457:Akap4 APN X 6,943,707 (GRCm39) missense probably benign 0.10
X0025:Akap4 UTSW X 6,939,893 (GRCm39) missense possibly damaging 0.77
Z1176:Akap4 UTSW X 6,944,599 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATCCATGTGAAGAGGAGTGCC -3'
(R):5'- AGCTGATCTATAAACTGGCGG -3'

Sequencing Primer
(F):5'- GGGTATATGTCCCAAAGTGCAC -3'
(R):5'- CTATAAACTGGCGGTTCATTTGC -3'
Posted On 2014-08-25