Incidental Mutation 'IGL01844:Kptn'
ID178128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kptn
Ensembl Gene ENSMUSG00000006021
Gene Namekaptin
Synonymsactin-binding protein, C030013F01Rik, 2E4, 2310042D10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01844
Quality Score
Status
Chromosome7
Chromosomal Location16119895-16127516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16123972 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 242 (T242A)
Ref Sequence ENSEMBL: ENSMUSP00000006178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178]
Predicted Effect probably benign
Transcript: ENSMUST00000006178
AA Change: T242A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: T242A

DomainStartEndE-ValueType
low complexity region 288 300 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152044
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, increased susceptibility to bacterial infection and abnormal homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,320 I115M probably damaging Het
Abcg5 A G 17: 84,682,025 I85T probably damaging Het
Amer2 A G 14: 60,379,907 D391G possibly damaging Het
Atp13a3 A T 16: 30,361,963 C83S probably benign Het
Bdh2 A T 3: 135,288,319 Q54L probably benign Het
Cep128 A G 12: 91,008,854 S1051P probably benign Het
Dopey1 A G 9: 86,514,085 T865A probably damaging Het
Epha8 C A 4: 136,931,049 *1005L probably null Het
Etl4 T C 2: 20,806,682 V1509A probably benign Het
Gucy1b1 T C 3: 82,046,526 E161G possibly damaging Het
Hepacam T A 9: 37,380,616 V80E probably damaging Het
Ireb2 A G 9: 54,865,357 K24E probably benign Het
Itch T A 2: 155,172,547 D101E possibly damaging Het
Itch T A 2: 155,172,486 F81Y possibly damaging Het
Klf7 C A 1: 64,078,774 Q221H probably benign Het
Macf1 A G 4: 123,440,692 F4420S probably benign Het
Mthfd2 A G 6: 83,311,810 probably null Het
Mtrf1l A C 10: 5,814,112 L284V probably null Het
Neb C T 2: 52,170,549 V2259I probably benign Het
Olfr1216 A T 2: 89,013,470 V198E possibly damaging Het
Olfr1499 A T 19: 13,814,816 M258K possibly damaging Het
Padi1 A T 4: 140,829,435 C154S probably damaging Het
Paxip1 T C 5: 27,751,038 T903A probably benign Het
Phactr2 T A 10: 13,253,437 L292F probably benign Het
Pkhd1l1 G A 15: 44,499,400 probably benign Het
Pnpla7 T C 2: 25,050,973 probably null Het
Rif1 T A 2: 52,112,543 I2003K probably benign Het
Rxfp3 A T 15: 11,037,046 V80E probably damaging Het
Sart3 T A 5: 113,745,648 K768* probably null Het
Slc35f5 C T 1: 125,589,875 T470I probably damaging Het
Smg8 A T 11: 87,080,276 Y890N probably damaging Het
Spata31 T C 13: 64,921,154 V372A possibly damaging Het
Tbc1d30 A T 10: 121,267,179 D649E probably benign Het
Tctn3 G A 19: 40,612,137 T3I probably damaging Het
Tns3 G A 11: 8,437,177 P1337S possibly damaging Het
Vmn2r15 T A 5: 109,286,269 *856C probably null Het
Vmn2r61 A T 7: 42,260,215 I55F probably benign Het
Zbtb41 C T 1: 139,447,327 P842S probably benign Het
Zc3h13 A G 14: 75,343,769 probably benign Het
Other mutations in Kptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Kptn APN 7 16120125 missense possibly damaging 0.93
IGL01938:Kptn APN 7 16124789 missense probably damaging 1.00
IGL02268:Kptn APN 7 16123861 missense probably benign 0.03
IGL02382:Kptn APN 7 16124020 missense probably benign 0.00
IGL02399:Kptn APN 7 16127113 unclassified probably benign
IGL03237:Kptn APN 7 16120125 missense probably damaging 0.97
captain UTSW 7 16125784 missense probably damaging 1.00
commander UTSW 7 16125785 nonsense probably null
Mate UTSW 7 16123103 missense probably damaging 1.00
PIT4687001:Kptn UTSW 7 16125826 missense probably damaging 0.96
R0344:Kptn UTSW 7 16125741 missense probably damaging 1.00
R0726:Kptn UTSW 7 16120722 missense probably damaging 0.99
R1421:Kptn UTSW 7 16123024 splice site probably benign
R1545:Kptn UTSW 7 16123963 missense probably benign 0.12
R2357:Kptn UTSW 7 16125784 missense probably damaging 1.00
R5068:Kptn UTSW 7 16123102 missense probably damaging 1.00
R5127:Kptn UTSW 7 16125785 nonsense probably null
R5195:Kptn UTSW 7 16123103 missense probably damaging 1.00
R5714:Kptn UTSW 7 16120758 unclassified probably null
R7121:Kptn UTSW 7 16123098 missense probably damaging 1.00
R7213:Kptn UTSW 7 16120779 missense possibly damaging 0.55
R7849:Kptn UTSW 7 16120041 missense probably damaging 1.00
R7932:Kptn UTSW 7 16120041 missense probably damaging 1.00
Z1088:Kptn UTSW 7 16123070 missense probably damaging 1.00
Posted On2014-05-07