Incidental Mutation 'R9620:Ilkap'
ID 724690
Institutional Source Beutler Lab
Gene Symbol Ilkap
Ensembl Gene ENSMUSG00000026309
Gene Name integrin-linked kinase-associated serine/threonine phosphatase 2C
Synonyms 1600009O09Rik, PP2C-DELTA, 0710007A14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R9620 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 91301583-91326537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91303973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 163 (C163R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000086861] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190747]
AlphaFold Q8R0F6
Predicted Effect probably benign
Transcript: ENSMUST00000027534
SMART Domains Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2C_SIG 26 64 4e-12 BLAST
PP2Cc 94 388 4.47e-93 SMART
PP2C_SIG 128 390 9.82e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086861
SMART Domains Protein: ENSMUSP00000084073
Gene: ENSMUSG00000047443

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 40 58 N/A INTRINSIC
low complexity region 85 113 N/A INTRINSIC
low complexity region 170 180 N/A INTRINSIC
Blast:TNF 200 337 3e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000187049
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000187306
SMART Domains Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2Cc 7 73 2e-24 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000187678
Predicted Effect probably benign
Transcript: ENSMUST00000190747
SMART Domains Protein: ENSMUSP00000140905
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
PP2Cc 1 164 7.3e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190998
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 G T 18: 10,704,605 (GRCm39) T151K possibly damaging Het
Acsf2 C T 11: 94,463,412 (GRCm39) W130* probably null Het
Aldh16a1 G A 7: 44,797,413 (GRCm39) R132* probably null Het
Amer3 C T 1: 34,628,043 (GRCm39) P761S probably benign Het
Amotl1 G T 9: 14,459,969 (GRCm39) D886E probably damaging Het
Cacna1s T C 1: 136,035,909 (GRCm39) F1383S probably damaging Het
Col14a1 T A 15: 55,225,781 (GRCm39) V148E unknown Het
Col9a2 T A 4: 120,910,403 (GRCm39) probably null Het
Cyp2a5 T A 7: 26,536,636 (GRCm39) M205K possibly damaging Het
Dcst2 A T 3: 89,277,825 (GRCm39) Q466L possibly damaging Het
Ecel1 T C 1: 87,080,853 (GRCm39) I350V possibly damaging Het
Enthd1 G A 15: 80,336,901 (GRCm39) T511I probably benign Het
Exoc6b T A 6: 84,988,302 (GRCm39) K92* probably null Het
Fam181a T G 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbxo34 A G 14: 47,768,725 (GRCm39) Y746C probably damaging Het
Fgfr4 T A 13: 55,308,994 (GRCm39) S372T possibly damaging Het
Fmo1 A G 1: 162,661,390 (GRCm39) F298L probably benign Het
Gad1 A C 2: 70,404,620 (GRCm39) D170A possibly damaging Het
Garin2 A C 12: 78,762,077 (GRCm39) D247A probably damaging Het
Golgb1 T C 16: 36,739,811 (GRCm39) S2758P probably benign Het
Golm2 T C 2: 121,737,242 (GRCm39) V261A probably benign Het
H2az2 A T 11: 6,379,094 (GRCm39) probably null Het
Krt9 A T 11: 100,079,186 (GRCm39) D735E unknown Het
Lipo3 A T 19: 33,559,629 (GRCm39) C80* probably null Het
Lpcat3 C T 6: 124,680,543 (GRCm39) P478L probably damaging Het
Luc7l3 G A 11: 94,212,545 (GRCm39) R24C unknown Het
Mafa T A 15: 75,619,161 (GRCm39) H204L probably benign Het
Mapk10 A C 5: 103,114,473 (GRCm39) V305G probably damaging Het
Mgat1 T C 11: 49,152,122 (GRCm39) F202L probably benign Het
Mical2 A T 7: 111,980,403 (GRCm39) T126S probably benign Het
Mill1 G A 7: 17,997,027 (GRCm39) R206H probably benign Het
Nlrc5 A T 8: 95,203,034 (GRCm39) Y378F probably benign Het
Nlrp9a G T 7: 26,250,469 (GRCm39) R78L probably damaging Het
Or10b1 G T 10: 78,356,128 (GRCm39) A229S probably benign Het
Or52i2 A T 7: 102,320,011 (GRCm39) I295F possibly damaging Het
Or8g50 A T 9: 39,648,287 (GRCm39) M59L Het
Orc6 A T 8: 86,026,430 (GRCm39) probably benign Het
Pate14 A G 9: 36,548,498 (GRCm39) probably null Het
Pcdhgb5 C T 18: 37,864,486 (GRCm39) Q94* probably null Het
Pcnx1 A G 12: 81,996,960 (GRCm39) D952G probably damaging Het
Ppfia2 A T 10: 106,749,519 (GRCm39) H1135L Het
Prmt2 A T 10: 76,061,213 (GRCm39) I91N probably damaging Het
Ptprm A G 17: 67,116,484 (GRCm39) Y932H probably damaging Het
Qrich2 T C 11: 116,337,946 (GRCm39) K154R probably damaging Het
Rapgef4 A G 2: 72,036,051 (GRCm39) T515A probably benign Het
Rgmb G A 17: 16,041,279 (GRCm39) R103* probably null Het
Ripk1 T G 13: 34,210,806 (GRCm39) S334A possibly damaging Het
Rnf5 C T 17: 34,820,721 (GRCm39) G147S possibly damaging Het
Ryr1 T C 7: 28,715,138 (GRCm39) Y4662C unknown Het
Secisbp2l A G 2: 125,589,394 (GRCm39) M718T probably damaging Het
Slc16a6 T C 11: 109,354,322 (GRCm39) T100A probably benign Het
Slc27a6 T A 18: 58,742,887 (GRCm39) M525K probably damaging Het
Slco2a1 G C 9: 102,962,065 (GRCm39) C579S probably damaging Het
Snx14 A G 9: 88,263,794 (GRCm39) S864P probably damaging Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Sptbn2 T C 19: 4,800,535 (GRCm39) L2250P probably damaging Het
Tlr6 A T 5: 65,112,146 (GRCm39) S254T possibly damaging Het
Trap1 A T 16: 3,858,083 (GRCm39) Y675* probably null Het
Ttc9b C A 7: 27,353,512 (GRCm39) A54E probably damaging Het
Unc45a A C 7: 79,975,403 (GRCm39) Y934D probably damaging Het
Usp17ld A G 7: 102,900,179 (GRCm39) L251P possibly damaging Het
Usp42 A G 5: 143,703,154 (GRCm39) V489A probably damaging Het
Vars1 A G 17: 35,235,001 (GRCm39) T1277A unknown Het
Vmn2r117 A G 17: 23,697,450 (GRCm39) S81P probably damaging Het
Vmn2r69 T A 7: 85,061,504 (GRCm39) I157F probably benign Het
Zfp697 A G 3: 98,335,182 (GRCm39) S316G probably damaging Het
Zfp729b T A 13: 67,739,787 (GRCm39) H826L probably damaging Het
Other mutations in Ilkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Ilkap APN 1 91,312,960 (GRCm39) critical splice donor site probably null
PIT4445001:Ilkap UTSW 1 91,313,067 (GRCm39) missense probably benign
R0184:Ilkap UTSW 1 91,304,027 (GRCm39) unclassified probably benign
R0782:Ilkap UTSW 1 91,306,272 (GRCm39) missense probably damaging 1.00
R1366:Ilkap UTSW 1 91,314,937 (GRCm39) missense possibly damaging 0.58
R1552:Ilkap UTSW 1 91,312,316 (GRCm39) missense probably damaging 1.00
R2155:Ilkap UTSW 1 91,312,345 (GRCm39) missense possibly damaging 0.65
R3946:Ilkap UTSW 1 91,314,972 (GRCm39) missense probably damaging 1.00
R4005:Ilkap UTSW 1 91,312,985 (GRCm39) missense probably benign 0.03
R4860:Ilkap UTSW 1 91,315,105 (GRCm39) unclassified probably benign
R5666:Ilkap UTSW 1 91,318,863 (GRCm39) missense probably benign 0.38
R5670:Ilkap UTSW 1 91,318,863 (GRCm39) missense probably benign 0.38
R7324:Ilkap UTSW 1 91,313,115 (GRCm39) splice site probably null
R8493:Ilkap UTSW 1 91,306,266 (GRCm39) missense probably damaging 1.00
R8548:Ilkap UTSW 1 91,318,882 (GRCm39) missense possibly damaging 0.81
R9227:Ilkap UTSW 1 91,314,937 (GRCm39) missense probably benign 0.41
R9230:Ilkap UTSW 1 91,314,937 (GRCm39) missense probably benign 0.41
R9694:Ilkap UTSW 1 91,303,973 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCAACAGCAGGCTTCCCTTC -3'
(R):5'- GGTCACCTTTGTTCAGGAGC -3'

Sequencing Primer
(F):5'- GGATCTTGTCATCCTACCAAAGGG -3'
(R):5'- CTTGTGGCTGAGACCCTTG -3'
Posted On 2022-09-12