Incidental Mutation 'R7210:Katnip'
ID 560999
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 045239-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7210 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125471411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1504 (V1504A)
Ref Sequence ENSEMBL: ENSMUSP00000065744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]
AlphaFold Q8C753
Predicted Effect probably damaging
Transcript: ENSMUST00000069660
AA Change: V1504A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1504A

DomainStartEndE-ValueType
internal_repeat_3 442 586 9.64e-5 PROSPERO
internal_repeat_2 454 607 1.91e-6 PROSPERO
low complexity region 704 718 N/A INTRINSIC
Pfam:DUF4457 909 1099 5.1e-43 PFAM
Pfam:DUF4457 1205 1524 8.4e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124223
AA Change: V1478A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1478A

DomainStartEndE-ValueType
internal_repeat_3 416 560 8.9e-5 PROSPERO
internal_repeat_2 428 581 1.74e-6 PROSPERO
low complexity region 678 692 N/A INTRINSIC
Pfam:DUF4457 882 1073 1.4e-39 PFAM
Pfam:DUF4457 1179 1498 2.2e-145 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: V214A

DomainStartEndE-ValueType
Pfam:DUF4457 1 143 3.6e-51 PFAM
Pfam:DUF4457 139 219 2.4e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G A 11: 94,264,767 (GRCm39) P194S probably benign Het
Ackr2 C T 9: 121,737,943 (GRCm39) A106V possibly damaging Het
Alg3 G A 16: 20,424,644 (GRCm39) P112L unknown Het
Areg T A 5: 91,288,764 (GRCm39) Y23* probably null Het
Aspn A G 13: 49,719,967 (GRCm39) T328A probably benign Het
B020011L13Rik A T 1: 117,729,241 (GRCm39) E249D possibly damaging Het
Bptf G A 11: 106,945,290 (GRCm39) Q2650* probably null Het
Btbd3 A T 2: 138,125,664 (GRCm39) R283W probably damaging Het
Cep131 T C 11: 119,955,615 (GRCm39) H1035R probably damaging Het
Cfap57 A T 4: 118,433,900 (GRCm39) Y959* probably null Het
Cnot1 T C 8: 96,515,286 (GRCm39) Y25C probably damaging Het
Crebbp G A 16: 3,902,121 (GRCm39) H2373Y possibly damaging Het
Ctnna3 T C 10: 64,086,547 (GRCm39) L373P probably damaging Het
Cyp8b1 T A 9: 121,744,246 (GRCm39) D362V probably damaging Het
D630003M21Rik T A 2: 158,057,932 (GRCm39) probably null Het
Dpp6 T C 5: 27,803,801 (GRCm39) I249T probably damaging Het
Fam149b T G 14: 20,428,540 (GRCm39) I475M probably damaging Het
Fat1 A G 8: 45,476,540 (GRCm39) Y1862C probably damaging Het
Fcrl5 A T 3: 87,353,719 (GRCm39) N355Y possibly damaging Het
Fgd6 C T 10: 93,969,954 (GRCm39) T1201I probably damaging Het
Fndc8 A T 11: 82,788,692 (GRCm39) D174V probably damaging Het
Gatb A G 3: 85,481,527 (GRCm39) H26R probably benign Het
Gm37240 T A 3: 84,405,114 (GRCm39) T230S probably benign Het
Gria4 T C 9: 4,464,135 (GRCm39) Q609R probably damaging Het
Gse1 C A 8: 120,957,441 (GRCm39) T644K unknown Het
Ifit1bl1 T G 19: 34,571,564 (GRCm39) I298L probably benign Het
Il31ra T C 13: 112,686,034 (GRCm39) D85G possibly damaging Het
Lyst T C 13: 13,831,568 (GRCm39) L1664P probably damaging Het
Mrpl35 A G 6: 71,794,722 (GRCm39) L82S possibly damaging Het
Myo7b G A 18: 32,140,155 (GRCm39) R212C probably damaging Het
Myom2 T C 8: 15,154,114 (GRCm39) V684A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nop58 G T 1: 59,749,539 (GRCm39) probably null Het
Nudt13 T A 14: 20,359,852 (GRCm39) I193N possibly damaging Het
Nyap1 C A 5: 137,736,244 (GRCm39) R81L probably damaging Het
Or1e28-ps1 T C 11: 73,615,699 (GRCm39) I50M possibly damaging Het
Oxct2b A C 4: 123,010,069 (GRCm39) probably benign Het
Pcf11 C T 7: 92,312,684 (GRCm39) A230T probably benign Het
Phactr4 A T 4: 132,085,582 (GRCm39) *695R probably null Het
Pkd1 T C 17: 24,794,840 (GRCm39) S2176P probably damaging Het
Plch2 C A 4: 155,093,543 (GRCm39) R133L probably damaging Het
Ptprq G T 10: 107,521,032 (GRCm39) N713K probably damaging Het
Ptrh2 A T 11: 86,580,793 (GRCm39) T137S probably benign Het
R3hdm1 A G 1: 128,138,945 (GRCm39) Y718C possibly damaging Het
Rftn1 T A 17: 50,301,335 (GRCm39) R505* probably null Het
Rps15a A G 7: 117,708,334 (GRCm39) F128L probably benign Het
Slc25a25 A T 2: 32,310,408 (GRCm39) M177K possibly damaging Het
Smgc C A 15: 91,744,492 (GRCm39) P631Q probably damaging Het
Sox2 T C 3: 34,705,306 (GRCm39) S248P probably damaging Het
Sycp1 T C 3: 102,760,808 (GRCm39) K702E probably damaging Het
Tes G T 6: 17,104,761 (GRCm39) C414F probably damaging Het
Tet1 A T 10: 62,650,280 (GRCm39) C14S probably null Het
Tle3 C T 9: 61,319,587 (GRCm39) P452S probably damaging Het
Tmc6 A C 11: 117,666,670 (GRCm39) L131R possibly damaging Het
Tnip3 C T 6: 65,570,495 (GRCm39) R30* probably null Het
Tnrc6b G T 15: 80,813,486 (GRCm39) G1748W probably damaging Het
Ugt2b38 T G 5: 87,558,284 (GRCm39) D459A probably damaging Het
Zdhhc2 A T 8: 40,920,480 (GRCm39) R246S probably damaging Het
Zscan22 T A 7: 12,640,748 (GRCm39) C331S probably damaging Het
Other mutations in Katnip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Katnip APN 7 125,394,622 (GRCm39) missense possibly damaging 0.75
IGL00950:Katnip APN 7 125,442,393 (GRCm39) missense probably benign
IGL01089:Katnip APN 7 125,394,485 (GRCm39) missense probably damaging 1.00
IGL01099:Katnip APN 7 125,464,492 (GRCm39) missense probably damaging 1.00
IGL01449:Katnip APN 7 125,469,857 (GRCm39) missense probably damaging 1.00
IGL01545:Katnip APN 7 125,352,143 (GRCm39) critical splice acceptor site probably null
IGL01937:Katnip APN 7 125,453,777 (GRCm39) missense probably benign 0.13
IGL01949:Katnip APN 7 125,361,014 (GRCm39) nonsense probably null
IGL02096:Katnip APN 7 125,413,993 (GRCm39) missense probably benign 0.09
IGL02148:Katnip APN 7 125,472,648 (GRCm39) splice site probably null
IGL02274:Katnip APN 7 125,369,742 (GRCm39) critical splice acceptor site probably null
IGL02323:Katnip APN 7 125,442,001 (GRCm39) missense probably benign 0.04
IGL02574:Katnip APN 7 125,428,925 (GRCm39) missense possibly damaging 0.48
IGL02639:Katnip APN 7 125,471,964 (GRCm39) missense probably damaging 1.00
IGL02833:Katnip APN 7 125,449,584 (GRCm39) nonsense probably null
IGL03003:Katnip APN 7 125,451,132 (GRCm39) missense probably damaging 1.00
IGL03011:Katnip APN 7 125,451,174 (GRCm39) missense probably benign 0.01
IGL03332:Katnip APN 7 125,419,277 (GRCm39) nonsense probably null
IGL03368:Katnip APN 7 125,468,030 (GRCm39) intron probably benign
E0370:Katnip UTSW 7 125,449,474 (GRCm39) missense probably benign 0.06
PIT4498001:Katnip UTSW 7 125,412,768 (GRCm39) missense probably benign
R0033:Katnip UTSW 7 125,360,999 (GRCm39) missense possibly damaging 0.77
R0033:Katnip UTSW 7 125,360,999 (GRCm39) missense possibly damaging 0.77
R0234:Katnip UTSW 7 125,394,557 (GRCm39) missense probably benign 0.00
R0234:Katnip UTSW 7 125,394,557 (GRCm39) missense probably benign 0.00
R0472:Katnip UTSW 7 125,472,139 (GRCm39) missense probably damaging 0.98
R0479:Katnip UTSW 7 125,442,518 (GRCm39) missense probably benign 0.20
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1223:Katnip UTSW 7 125,359,595 (GRCm39) missense possibly damaging 0.75
R1299:Katnip UTSW 7 125,451,195 (GRCm39) missense probably benign
R1331:Katnip UTSW 7 125,465,627 (GRCm39) missense probably benign 0.00
R1484:Katnip UTSW 7 125,415,743 (GRCm39) splice site probably benign
R1507:Katnip UTSW 7 125,465,524 (GRCm39) missense probably damaging 1.00
R1562:Katnip UTSW 7 125,442,020 (GRCm39) missense probably damaging 1.00
R1992:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R2008:Katnip UTSW 7 125,459,738 (GRCm39) missense probably damaging 1.00
R2010:Katnip UTSW 7 125,472,128 (GRCm39) missense possibly damaging 0.93
R2147:Katnip UTSW 7 125,464,492 (GRCm39) missense probably damaging 1.00
R2508:Katnip UTSW 7 125,394,515 (GRCm39) missense probably benign
R3015:Katnip UTSW 7 125,465,512 (GRCm39) missense probably damaging 1.00
R3794:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R3795:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R4043:Katnip UTSW 7 125,467,913 (GRCm39) missense probably benign 0.30
R4044:Katnip UTSW 7 125,467,913 (GRCm39) missense probably benign 0.30
R4692:Katnip UTSW 7 125,466,841 (GRCm39) critical splice donor site probably null
R4772:Katnip UTSW 7 125,464,523 (GRCm39) missense probably damaging 0.96
R5155:Katnip UTSW 7 125,471,356 (GRCm39) missense probably damaging 1.00
R5467:Katnip UTSW 7 125,442,527 (GRCm39) missense possibly damaging 0.65
R5551:Katnip UTSW 7 125,419,249 (GRCm39) missense probably damaging 1.00
R5560:Katnip UTSW 7 125,453,733 (GRCm39) missense probably benign 0.00
R5662:Katnip UTSW 7 125,441,875 (GRCm39) missense probably benign 0.00
R5667:Katnip UTSW 7 125,442,627 (GRCm39) critical splice donor site probably null
R5838:Katnip UTSW 7 125,466,827 (GRCm39) missense possibly damaging 0.88
R5958:Katnip UTSW 7 125,412,807 (GRCm39) missense probably benign 0.01
R5983:Katnip UTSW 7 125,449,545 (GRCm39) missense probably damaging 1.00
R6084:Katnip UTSW 7 125,414,037 (GRCm39) missense probably benign
R6241:Katnip UTSW 7 125,472,006 (GRCm39) missense probably benign 0.00
R6298:Katnip UTSW 7 125,469,869 (GRCm39) missense probably benign 0.11
R6345:Katnip UTSW 7 125,352,159 (GRCm39) missense probably damaging 0.97
R6554:Katnip UTSW 7 125,449,914 (GRCm39) missense probably damaging 1.00
R6715:Katnip UTSW 7 125,361,001 (GRCm39) nonsense probably null
R6745:Katnip UTSW 7 125,369,822 (GRCm39) missense probably benign 0.00
R7178:Katnip UTSW 7 125,465,499 (GRCm39) missense probably benign 0.00
R7404:Katnip UTSW 7 125,464,434 (GRCm39) missense probably damaging 1.00
R7561:Katnip UTSW 7 125,441,894 (GRCm39) missense probably benign
R7571:Katnip UTSW 7 125,307,193 (GRCm39) unclassified probably benign
R7584:Katnip UTSW 7 125,469,838 (GRCm39) missense probably damaging 0.99
R7629:Katnip UTSW 7 125,394,422 (GRCm39) missense probably damaging 0.96
R7676:Katnip UTSW 7 125,449,549 (GRCm39) missense probably benign 0.26
R7748:Katnip UTSW 7 125,428,973 (GRCm39) missense probably benign 0.00
R7786:Katnip UTSW 7 125,464,466 (GRCm39) missense probably benign 0.19
R8058:Katnip UTSW 7 125,442,188 (GRCm39) missense probably benign 0.17
R8154:Katnip UTSW 7 125,412,802 (GRCm39) missense probably damaging 0.98
R8204:Katnip UTSW 7 125,449,914 (GRCm39) missense probably damaging 1.00
R8359:Katnip UTSW 7 125,468,023 (GRCm39) critical splice donor site probably null
R8700:Katnip UTSW 7 125,429,042 (GRCm39) splice site probably benign
R8812:Katnip UTSW 7 125,396,867 (GRCm39) missense probably benign 0.26
R8942:Katnip UTSW 7 125,449,975 (GRCm39) missense probably damaging 1.00
R9216:Katnip UTSW 7 125,471,926 (GRCm39) missense probably damaging 1.00
R9254:Katnip UTSW 7 125,469,848 (GRCm39) missense probably damaging 1.00
R9263:Katnip UTSW 7 125,469,867 (GRCm39) missense probably damaging 1.00
R9379:Katnip UTSW 7 125,469,848 (GRCm39) missense probably damaging 1.00
R9601:Katnip UTSW 7 125,442,092 (GRCm39) missense probably benign 0.04
R9657:Katnip UTSW 7 125,441,956 (GRCm39) missense probably benign
U24488:Katnip UTSW 7 125,369,853 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTCCCACATGCAGAGTGCTG -3'
(R):5'- GCCATGTGATTCTAGAGGGAGC -3'

Sequencing Primer
(F):5'- CAGAGTGCTGCGGCTGG -3'
(R):5'- GGGAGCCCTGAAAGCAACAC -3'
Posted On 2019-06-26