Incidental Mutation 'R1421:Kptn'
ID159811
Institutional Source Beutler Lab
Gene Symbol Kptn
Ensembl Gene ENSMUSG00000006021
Gene Namekaptin
Synonymsactin-binding protein, C030013F01Rik, 2E4, 2310042D10Rik
MMRRC Submission 039477-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1421 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location16119895-16127516 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 16123024 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178]
Predicted Effect probably benign
Transcript: ENSMUST00000006178
SMART Domains Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,438 V61A probably damaging Het
A2ml1 T C 6: 128,543,960 T1344A probably benign Het
Abcf1 G A 17: 35,960,909 A375V probably damaging Het
Adam20 T A 8: 40,796,747 H631Q possibly damaging Het
Adcy10 T C 1: 165,563,947 S1258P probably damaging Het
Agtpbp1 A G 13: 59,495,575 I717T possibly damaging Het
Ahnak T A 19: 9,015,631 F4760I possibly damaging Het
Ano6 A G 15: 95,913,385 K122R probably benign Het
Arhgap5 T C 12: 52,516,848 C201R probably damaging Het
Atg16l1 T C 1: 87,786,358 probably benign Het
Cdhr3 A T 12: 33,060,292 I331K probably damaging Het
Coq8a A G 1: 180,170,441 probably benign Het
Crebbp A G 16: 4,124,647 V662A probably damaging Het
Cspg4 T A 9: 56,896,626 M1667K probably benign Het
Dnah7a A G 1: 53,540,873 probably benign Het
Dnajc6 A T 4: 101,611,316 Y251F probably damaging Het
Dpy19l4 A T 4: 11,304,011 M133K probably benign Het
Emb T C 13: 117,272,088 Y322H probably benign Het
Fam196a A T 7: 134,899,231 probably benign Het
Gcm1 A T 9: 78,059,700 H67L probably damaging Het
Gls2 A T 10: 128,201,348 K253* probably null Het
Gm28042 T A 2: 120,036,463 S196T probably benign Het
Gm43302 T C 5: 105,217,349 T598A probably benign Het
Gramd1a T A 7: 31,142,866 Q90L probably damaging Het
Grhl2 A G 15: 37,309,716 Y352C probably damaging Het
Ifi203-ps T C 1: 173,797,997 noncoding transcript Het
Ifitm2 T C 7: 140,955,059 I121V probably benign Het
L2hgdh C T 12: 69,701,318 D345N probably benign Het
Lgals12 T C 19: 7,606,714 H6R probably benign Het
Lrrc4b A G 7: 44,461,051 I116V probably benign Het
Misp A G 10: 79,826,847 D366G probably damaging Het
Nav1 T C 1: 135,585,010 E104G probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Parp1 T C 1: 180,600,088 probably benign Het
Pikfyve G A 1: 65,271,311 G1919D probably damaging Het
Pomt1 A G 2: 32,236,753 probably benign Het
Prrc2b C T 2: 32,200,978 S454F possibly damaging Het
Selenbp1 T C 3: 94,943,872 S360P probably benign Het
Slc6a12 T A 6: 121,359,126 I352N probably damaging Het
Snx9 G A 17: 5,902,484 G197D probably benign Het
Ston1 T C 17: 88,635,793 V209A probably benign Het
Tex36 A T 7: 133,595,349 probably null Het
Tnnt3 A G 7: 142,511,366 E108G probably damaging Het
Vmn2r98 T A 17: 19,065,178 F87I probably damaging Het
Vwa8 C T 14: 78,908,230 R116C probably damaging Het
Wdr64 T C 1: 175,767,150 I479T possibly damaging Het
Xrcc5 A G 1: 72,310,477 N22D probably benign Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Zfp735 C A 11: 73,710,697 L156I probably benign Het
Zfp820 A T 17: 21,819,880 Y156N possibly damaging Het
Other mutations in Kptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Kptn APN 7 16120125 missense possibly damaging 0.93
IGL01844:Kptn APN 7 16123972 missense probably benign 0.05
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
R0344:Kptn UTSW 7 16125741 missense probably damaging 1.00
R0726:Kptn UTSW 7 16120722 missense probably damaging 0.99
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 not run
Z1088:Kptn UTSW 7 16123070 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATGTGAATCTCTGGATGTCAGC -3'
(R):5'- GATGGAGTCAGTTAGCAGCCACAG -3'

Sequencing Primer
(F):5'- CTGGGCATAAgaggtacaggtaag -3'
(R):5'- TTAGCAGCCACAGGCCAG -3'
Posted On2014-03-14