Incidental Mutation 'R5127:Kptn'
ID 394817
Institutional Source Beutler Lab
Gene Symbol Kptn
Ensembl Gene ENSMUSG00000006021
Gene Name kaptin
Synonyms 2E4, actin-binding protein, C030013F01Rik, 2310042D10Rik
MMRRC Submission 042715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5127 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 15853820-15861441 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 15859710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 311 (C311*)
Ref Sequence ENSEMBL: ENSMUSP00000006178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006178] [ENSMUST00000211649] [ENSMUST00000168693]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000006178
AA Change: C311*
SMART Domains Protein: ENSMUSP00000006178
Gene: ENSMUSG00000006021
AA Change: C311*

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: ENSMUST00000152044
Predicted Effect probably benign
Transcript: ENSMUST00000211649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149388
Predicted Effect probably benign
Transcript: ENSMUST00000168693
SMART Domains Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 32 N/A INTRINSIC
Pfam:Na_Ca_ex 74 245 8.6e-35 PFAM
Pfam:Na_Ca_ex_C 248 378 7.8e-50 PFAM
Calx_beta 383 483 3.27e-47 SMART
Calx_beta 512 612 3.37e-49 SMART
low complexity region 704 717 N/A INTRINSIC
Pfam:Na_Ca_ex 747 912 2.5e-27 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (42/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,902,826 (GRCm39) K497E probably damaging Het
4933413J09Rik A G 14: 26,097,462 (GRCm39) noncoding transcript Het
Aox1 A T 1: 58,069,185 (GRCm39) I4F probably benign Het
Arhgef5 A T 6: 43,250,148 (GRCm39) N300Y probably damaging Het
B530045E10Rik A G 10: 99,257,983 (GRCm39) noncoding transcript Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cdh20 A G 1: 104,875,073 (GRCm39) E285G probably damaging Het
Cfap54 A T 10: 92,722,249 (GRCm39) probably null Het
Col6a3 A G 1: 90,696,067 (GRCm39) C2667R unknown Het
Cts8 C T 13: 61,401,149 (GRCm39) V126M probably damaging Het
Dag1 A T 9: 108,084,771 (GRCm39) I790N possibly damaging Het
Ddit4 A G 10: 59,786,491 (GRCm39) I186T probably damaging Het
Dnajc11 T A 4: 152,054,271 (GRCm39) probably benign Het
Farsa A G 8: 85,595,593 (GRCm39) D495G probably benign Het
Gm1527 T A 3: 28,957,567 (GRCm39) I157N probably damaging Het
Gm5773 T A 3: 93,680,735 (GRCm39) W136R probably benign Het
Hpse C A 5: 100,867,403 (GRCm39) A20S unknown Het
Igfn1 A G 1: 135,887,634 (GRCm39) Y2477H probably damaging Het
Kcnh5 A G 12: 74,944,858 (GRCm39) V797A probably benign Het
Lpcat2 A T 8: 93,635,819 (GRCm39) N407I possibly damaging Het
Lrp1 T A 10: 127,375,503 (GRCm39) probably benign Het
Ovol2 C T 2: 144,159,780 (GRCm39) C120Y probably damaging Het
Pcdhac2 G T 18: 37,277,352 (GRCm39) E111* probably null Het
Pknox1 C T 17: 31,809,713 (GRCm39) P106S probably benign Het
Plet1 C T 9: 50,415,595 (GRCm39) T155I probably benign Het
Ppfia2 A G 10: 106,671,621 (GRCm39) K444R probably damaging Het
Prrc2c A T 1: 162,525,415 (GRCm39) I397N unknown Het
Ranbp1 A G 16: 18,065,151 (GRCm39) probably null Het
Raver2 T C 4: 100,960,182 (GRCm39) C221R probably damaging Het
Reps1 A G 10: 17,969,628 (GRCm39) T244A probably benign Het
Slc22a16 G A 10: 40,449,953 (GRCm39) V130I probably benign Het
Stmnd1 G A 13: 46,453,071 (GRCm39) S249N probably benign Het
Styx A G 14: 45,610,961 (GRCm39) probably null Het
Sult1b1 T G 5: 87,669,407 (GRCm39) N147T probably damaging Het
Tbc1d2 G A 4: 46,633,639 (GRCm39) probably benign Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Ufl1 T C 4: 25,256,010 (GRCm39) E423G probably benign Het
Unc13c T C 9: 73,840,654 (GRCm39) I66V probably benign Het
Wfdc10 C T 2: 164,499,060 (GRCm39) Q57* probably null Het
Zeb1os1 T C 18: 5,567,390 (GRCm39) noncoding transcript Het
Zfp369 A T 13: 65,426,847 (GRCm39) probably benign Het
Other mutations in Kptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Kptn APN 7 15,854,050 (GRCm39) missense possibly damaging 0.93
IGL01844:Kptn APN 7 15,857,897 (GRCm39) missense probably benign 0.05
IGL01938:Kptn APN 7 15,858,714 (GRCm39) missense probably damaging 1.00
IGL02268:Kptn APN 7 15,857,786 (GRCm39) missense probably benign 0.03
IGL02382:Kptn APN 7 15,857,945 (GRCm39) missense probably benign 0.00
IGL02399:Kptn APN 7 15,861,038 (GRCm39) unclassified probably benign
IGL03237:Kptn APN 7 15,854,050 (GRCm39) missense probably damaging 0.97
captain UTSW 7 15,859,709 (GRCm39) missense probably damaging 1.00
commander UTSW 7 15,859,710 (GRCm39) nonsense probably null
Mate UTSW 7 15,857,028 (GRCm39) missense probably damaging 1.00
PIT4687001:Kptn UTSW 7 15,859,751 (GRCm39) missense probably damaging 0.96
R0344:Kptn UTSW 7 15,859,666 (GRCm39) missense probably damaging 1.00
R0726:Kptn UTSW 7 15,854,647 (GRCm39) missense probably damaging 0.99
R1421:Kptn UTSW 7 15,856,949 (GRCm39) splice site probably benign
R1545:Kptn UTSW 7 15,857,888 (GRCm39) missense probably benign 0.12
R2357:Kptn UTSW 7 15,859,709 (GRCm39) missense probably damaging 1.00
R5068:Kptn UTSW 7 15,857,027 (GRCm39) missense probably damaging 1.00
R5195:Kptn UTSW 7 15,857,028 (GRCm39) missense probably damaging 1.00
R5714:Kptn UTSW 7 15,854,683 (GRCm39) splice site probably null
R7121:Kptn UTSW 7 15,857,023 (GRCm39) missense probably damaging 1.00
R7213:Kptn UTSW 7 15,854,704 (GRCm39) missense possibly damaging 0.55
R7849:Kptn UTSW 7 15,853,966 (GRCm39) missense probably damaging 1.00
R7978:Kptn UTSW 7 15,859,697 (GRCm39) missense probably damaging 1.00
R8139:Kptn UTSW 7 15,857,901 (GRCm39) missense probably benign 0.00
Z1088:Kptn UTSW 7 15,856,995 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGAACACTCGAGGCCAAC -3'
(R):5'- ATAGCAGAGCAGCTCCTGTG -3'

Sequencing Primer
(F):5'- TCAGGAGTGAGTCTGGACCTCAG -3'
(R):5'- TCCTGTGGGGAGAGGGGC -3'
Posted On 2016-06-21