Incidental Mutation 'R5541:Intu'
ID 435945
Institutional Source Beutler Lab
Gene Symbol Intu
Ensembl Gene ENSMUSG00000060798
Gene Name inturned planar cell polarity protein
Synonyms Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 40531286-40704774 bp(+) (GRCm38)
Type of Mutation splice site (63 bp from exon)
DNA Base Change (assembly) A to G at 40692587 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000091186]
AlphaFold Q059U7
Predicted Effect probably damaging
Transcript: ENSMUST00000091186
AA Change: D630G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: D630G

DomainStartEndE-ValueType
low complexity region 21 48 N/A INTRINSIC
low complexity region 64 81 N/A INTRINSIC
PDZ 187 269 2.09e-3 SMART
low complexity region 459 468 N/A INTRINSIC
low complexity region 774 784 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000204176
Meta Mutation Damage Score 0.5143 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
MGI Phenotype PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik T C 11: 51,685,969 (GRCm38) H34R probably benign Het
1700113H08Rik A G 10: 87,225,946 (GRCm38) K86R probably benign Het
Abca13 T C 11: 9,291,545 (GRCm38) V1136A probably benign Het
Als2cr12 A G 1: 58,658,429 (GRCm38) M384T probably benign Het
Arfgap2 G A 2: 91,275,769 (GRCm38) R530H probably benign Het
Arhgap30 T C 1: 171,404,139 (GRCm38) probably null Het
Asb7 T C 7: 66,679,269 (GRCm38) R8G probably benign Het
Bod1l T C 5: 41,791,933 (GRCm38) N2949D probably benign Het
Ccdc86 T C 19: 10,948,554 (GRCm38) E227G probably damaging Het
Cercam A G 2: 29,875,629 (GRCm38) D261G probably benign Het
Chd9 A T 8: 91,051,504 (GRCm38) E2714D probably benign Het
Dcp1a T A 14: 30,502,839 (GRCm38) S126R probably damaging Het
Defa17 T A 8: 21,656,549 (GRCm38) C64S probably damaging Het
Depdc5 A T 5: 32,864,629 (GRCm38) probably benign Het
Dhx29 A G 13: 112,940,374 (GRCm38) N259S possibly damaging Het
Dnah6 A T 6: 73,192,988 (GRCm38) L323Q possibly damaging Het
Dnah9 T C 11: 66,145,336 (GRCm38) Y416C probably damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fbxw15 T G 9: 109,565,430 (GRCm38) I106L probably benign Het
Gm10610 A G 7: 83,549,406 (GRCm38) noncoding transcript Het
Gpr22 A G 12: 31,709,349 (GRCm38) F258S probably damaging Het
Grip1 A T 10: 120,072,718 (GRCm38) I618F probably damaging Het
H2afy2 T C 10: 61,747,717 (GRCm38) I215V probably benign Het
Hspg2 C T 4: 137,520,551 (GRCm38) T1233I probably damaging Het
Hspg2 C A 4: 137,542,825 (GRCm38) Q2365K probably benign Het
Kdm1b T C 13: 47,079,196 (GRCm38) M714T probably damaging Het
Kif21a A G 15: 90,968,113 (GRCm38) M924T probably damaging Het
Klb A T 5: 65,379,234 (GRCm38) M636L probably benign Het
Klrb1a G A 6: 128,609,736 (GRCm38) H219Y probably benign Het
March10 C T 11: 105,390,131 (GRCm38) D443N probably damaging Het
Nos1 A G 5: 117,905,394 (GRCm38) E578G probably damaging Het
Olfr1502 T C 19: 13,861,964 (GRCm38) I57T probably benign Het
Olfr887 T C 9: 38,085,123 (GRCm38) C96R probably damaging Het
Pard3b A G 1: 61,639,343 (GRCm38) Y34C probably damaging Het
Pcdh17 T A 14: 84,447,416 (GRCm38) V441E probably damaging Het
Pde6g A T 11: 120,448,172 (GRCm38) I64N probably damaging Het
Pdia4 C T 6: 47,796,637 (GRCm38) V593M probably damaging Het
Pnn T G 12: 59,071,930 (GRCm38) V433G possibly damaging Het
Rbak G A 5: 143,173,990 (GRCm38) S436F probably damaging Het
Rpl11 A G 4: 136,052,732 (GRCm38) probably benign Het
Ryr1 G T 7: 29,086,185 (GRCm38) Q1701K probably damaging Het
Scn1a T A 2: 66,324,633 (GRCm38) T661S probably benign Het
Smg1 T A 7: 118,157,163 (GRCm38) probably benign Het
St8sia2 T C 7: 73,966,900 (GRCm38) D109G probably benign Het
Stk-ps1 T A 17: 36,398,213 (GRCm38) noncoding transcript Het
Stxbp3-ps C T 19: 9,557,970 (GRCm38) noncoding transcript Het
Taf1d T A 9: 15,308,850 (GRCm38) F132I probably damaging Het
Tfap2b A G 1: 19,214,026 (GRCm38) S35G possibly damaging Het
Tnk2 C T 16: 32,669,523 (GRCm38) T198I probably benign Het
Ube2q2 T A 9: 55,191,879 (GRCm38) V168E possibly damaging Het
Ucma A G 2: 4,981,330 (GRCm38) R105G probably benign Het
Vmn2r97 C T 17: 18,928,355 (GRCm38) Q171* probably null Het
Wapl T C 14: 34,730,662 (GRCm38) probably null Het
Zfand4 T A 6: 116,314,295 (GRCm38) C397S possibly damaging Het
Zfhx3 A G 8: 108,948,951 (GRCm38) N2211S probably damaging Het
Zfp143 G T 7: 110,070,480 (GRCm38) G39C probably benign Het
Zfp568 T A 7: 30,022,876 (GRCm38) D414E possibly damaging Het
Zfp574 C T 7: 25,081,950 (GRCm38) A799V probably damaging Het
Other mutations in Intu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Intu APN 3 40,664,266 (GRCm38) missense probably benign 0.12
IGL01386:Intu APN 3 40,692,587 (GRCm38) missense probably damaging 1.00
IGL02645:Intu APN 3 40,701,272 (GRCm38) missense probably benign 0.01
IGL02869:Intu APN 3 40,687,786 (GRCm38) missense probably damaging 1.00
IGL03263:Intu APN 3 40,672,597 (GRCm38) nonsense probably null
H8562:Intu UTSW 3 40,692,673 (GRCm38) missense probably damaging 1.00
PIT4495001:Intu UTSW 3 40,697,603 (GRCm38) missense probably benign 0.07
R0010:Intu UTSW 3 40,654,272 (GRCm38) intron probably benign
R0173:Intu UTSW 3 40,675,346 (GRCm38) critical splice donor site probably null
R0426:Intu UTSW 3 40,675,305 (GRCm38) missense probably damaging 0.97
R1566:Intu UTSW 3 40,692,578 (GRCm38) missense probably damaging 0.99
R1619:Intu UTSW 3 40,697,631 (GRCm38) nonsense probably null
R1658:Intu UTSW 3 40,692,781 (GRCm38) missense probably benign 0.20
R1701:Intu UTSW 3 40,664,264 (GRCm38) missense probably damaging 1.00
R1707:Intu UTSW 3 40,683,501 (GRCm38) missense possibly damaging 0.69
R1707:Intu UTSW 3 40,540,924 (GRCm38) missense probably benign 0.03
R1867:Intu UTSW 3 40,664,335 (GRCm38) missense probably damaging 1.00
R1868:Intu UTSW 3 40,664,335 (GRCm38) missense probably damaging 1.00
R2090:Intu UTSW 3 40,683,536 (GRCm38) missense probably benign 0.00
R2310:Intu UTSW 3 40,653,813 (GRCm38) missense probably benign
R2989:Intu UTSW 3 40,692,710 (GRCm38) missense probably benign 0.11
R4168:Intu UTSW 3 40,672,623 (GRCm38) missense probably benign 0.00
R4530:Intu UTSW 3 40,683,364 (GRCm38) missense possibly damaging 0.95
R5093:Intu UTSW 3 40,692,917 (GRCm38) missense probably benign 0.00
R5587:Intu UTSW 3 40,675,308 (GRCm38) missense probably damaging 0.99
R5745:Intu UTSW 3 40,692,972 (GRCm38) splice site probably null
R5809:Intu UTSW 3 40,679,590 (GRCm38) missense probably damaging 0.99
R5939:Intu UTSW 3 40,692,584 (GRCm38) missense probably damaging 1.00
R5953:Intu UTSW 3 40,679,550 (GRCm38) missense probably damaging 1.00
R6000:Intu UTSW 3 40,654,148 (GRCm38) nonsense probably null
R6063:Intu UTSW 3 40,654,094 (GRCm38) missense probably damaging 0.97
R6245:Intu UTSW 3 40,675,326 (GRCm38) missense probably damaging 0.98
R6310:Intu UTSW 3 40,701,291 (GRCm38) nonsense probably null
R6353:Intu UTSW 3 40,653,708 (GRCm38) missense probably damaging 1.00
R6451:Intu UTSW 3 40,701,293 (GRCm38) missense possibly damaging 0.94
R6660:Intu UTSW 3 40,531,951 (GRCm38) missense probably benign 0.00
R6848:Intu UTSW 3 40,694,255 (GRCm38) missense probably benign 0.00
R7440:Intu UTSW 3 40,697,551 (GRCm38) missense probably benign 0.04
R7625:Intu UTSW 3 40,697,599 (GRCm38) missense probably benign
R7633:Intu UTSW 3 40,654,253 (GRCm38) missense probably damaging 1.00
R7798:Intu UTSW 3 40,691,929 (GRCm38) missense probably damaging 1.00
R7877:Intu UTSW 3 40,699,792 (GRCm38) missense probably benign 0.07
R7978:Intu UTSW 3 40,697,639 (GRCm38) missense probably damaging 1.00
R8319:Intu UTSW 3 40,653,772 (GRCm38) missense probably damaging 1.00
R8332:Intu UTSW 3 40,675,289 (GRCm38) missense probably benign 0.35
R8860:Intu UTSW 3 40,672,732 (GRCm38) missense probably benign 0.07
R8926:Intu UTSW 3 40,653,709 (GRCm38) missense possibly damaging 0.69
R8946:Intu UTSW 3 40,683,359 (GRCm38) missense possibly damaging 0.93
R9164:Intu UTSW 3 40,690,703 (GRCm38) missense probably damaging 1.00
R9191:Intu UTSW 3 40,692,511 (GRCm38) missense probably damaging 0.99
R9547:Intu UTSW 3 40,654,106 (GRCm38) missense probably benign
Z1177:Intu UTSW 3 40,697,516 (GRCm38) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GATTGAGAGATTTTCAGAACTCACGAG -3'
(R):5'- AAGGTTCTCCTGCATGTTGG -3'

Sequencing Primer
(F):5'- TTTCAGAACTCACGAGTATTTGC -3'
(R):5'- CTGCTGTTTTGGAAGGCCCC -3'
Posted On 2016-10-24