Incidental Mutation 'R5464:Ift52'
ID 433141
Institutional Source Beutler Lab
Gene Symbol Ift52
Ensembl Gene ENSMUSG00000017858
Gene Name intraflagellar transport 52
Synonyms NGD5
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 162859274-162888061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162871735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 189 (V189A)
Ref Sequence ENSEMBL: ENSMUSP00000018002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018002] [ENSMUST00000150396]
AlphaFold Q62559
Predicted Effect probably benign
Transcript: ENSMUST00000018002
AA Change: V189A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: V189A

DomainStartEndE-ValueType
Pfam:ABC_transp_aux 1 116 1.8e-13 PFAM
low complexity region 340 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150396
AA Change: V189A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: V189A

DomainStartEndE-ValueType
Pfam:ABC_transp_aux 3 117 4.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152201
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Serpinb3c A T 1: 107,199,434 (GRCm39) D362E probably damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Sgcg A G 14: 61,474,304 (GRCm39) V113A possibly damaging Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Snx19 A G 9: 30,339,269 (GRCm39) K136E possibly damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Uqcrb T C 13: 67,048,889 (GRCm39) D87G probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging Het
Other mutations in Ift52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02006:Ift52 APN 2 162,865,289 (GRCm39) missense probably benign 0.00
IGL02164:Ift52 APN 2 162,867,384 (GRCm39) splice site probably null
IGL02657:Ift52 APN 2 162,887,135 (GRCm39) missense probably damaging 1.00
IGL02876:Ift52 APN 2 162,878,627 (GRCm39) missense probably benign 0.01
IGL03136:Ift52 APN 2 162,867,254 (GRCm39) nonsense probably null
IGL03292:Ift52 APN 2 162,865,320 (GRCm39) missense probably damaging 1.00
R1115:Ift52 UTSW 2 162,871,702 (GRCm39) missense probably benign 0.34
R1502:Ift52 UTSW 2 162,871,782 (GRCm39) critical splice donor site probably null
R1775:Ift52 UTSW 2 162,867,275 (GRCm39) missense possibly damaging 0.79
R2204:Ift52 UTSW 2 162,873,150 (GRCm39) missense probably benign 0.07
R2259:Ift52 UTSW 2 162,870,013 (GRCm39) missense probably benign 0.04
R2348:Ift52 UTSW 2 162,887,177 (GRCm39) missense probably damaging 0.99
R4820:Ift52 UTSW 2 162,873,108 (GRCm39) missense probably benign 0.06
R7054:Ift52 UTSW 2 162,871,716 (GRCm39) missense probably damaging 0.98
Z1088:Ift52 UTSW 2 162,865,278 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GCCGTAGACACATGCACACTAG -3'
(R):5'- GGGAAAATAGACTTCAGGTTCTACC -3'

Sequencing Primer
(F):5'- TGCACACTAGCATATGTGTGGAAC -3'
(R):5'- ATCAGGGCATCATTATGTACCCTTGG -3'
Posted On 2016-10-06