Incidental Mutation 'R8548:Ilkap'
ID 659720
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 068513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R8548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 91301583-91326537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91318882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 31 (D31E)
Ref Sequence ENSEMBL: ENSMUSP00000140182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190519]
AlphaFold Q8R0F6
Predicted Effect probably benign
Transcript: ENSMUST00000027534
AA Change: D31E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: D31E

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: ENSMUST00000186986
AA Change: D31E

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140074
Gene: ENSMUSG00000026309
AA Change: D31E

DomainStartEndE-ValueType
Blast:PP2Cc 7 72 9e-24 BLAST
low complexity region 83 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187049
AA Change: D29E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000187306
AA Change: D31E

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309
AA Change: D31E

DomainStartEndE-ValueType
Blast:PP2Cc 7 73 2e-24 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000187678
AA Change: D31E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000190519
AA Change: D31E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309
AA Change: D31E

DomainStartEndE-ValueType
Blast:PP2C_SIG 26 136 2e-36 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A T 5: 121,658,165 (GRCm39) L376Q probably damaging Het
Akirin1 A G 4: 123,631,831 (GRCm39) M179T possibly damaging Het
Ap5b1 G T 19: 5,621,123 (GRCm39) V848L possibly damaging Het
Apoa2 T A 1: 171,053,798 (GRCm39) M91K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cdc20 A C 4: 118,293,535 (GRCm39) S160A possibly damaging Het
Cftr G T 6: 18,273,698 (GRCm39) V839L possibly damaging Het
Ctf1 A T 7: 127,316,564 (GRCm39) H171L probably benign Het
Dmac2 T A 7: 25,324,217 (GRCm39) M225K probably damaging Het
Dmbx1 A T 4: 115,777,512 (GRCm39) V112E probably damaging Het
Eloa T C 4: 135,732,988 (GRCm39) K754R probably damaging Het
Ern2 G A 7: 121,777,062 (GRCm39) T286I probably damaging Het
Fam135b T C 15: 71,334,659 (GRCm39) D845G probably damaging Het
Fbxl6 T A 15: 76,421,542 (GRCm39) M232L possibly damaging Het
Gpr171 A T 3: 59,005,400 (GRCm39) I125K probably damaging Het
Hoxa2 G A 6: 52,140,098 (GRCm39) T296I probably damaging Het
Hspa8 A G 9: 40,713,767 (GRCm39) M87V probably benign Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Macc1 T A 12: 119,414,091 (GRCm39) S756T probably benign Het
Map2 A G 1: 66,452,499 (GRCm39) D545G probably damaging Het
Mapkbp1 A G 2: 119,854,572 (GRCm39) N1390D probably benign Het
Mgat5 G A 1: 127,248,409 (GRCm39) V104M possibly damaging Het
Myoz2 T A 3: 122,827,916 (GRCm39) M1L possibly damaging Het
Nmt1 A G 11: 102,934,052 (GRCm39) K64E possibly damaging Het
Nr6a1 C A 2: 38,619,550 (GRCm39) Q448H probably damaging Het
Nr6a1 T G 2: 38,619,551 (GRCm39) Q448P probably damaging Het
Odf2 T C 2: 29,783,526 (GRCm39) probably null Het
Or8g37 T A 9: 39,731,537 (GRCm39) C201S probably benign Het
Osbpl6 A G 2: 76,409,566 (GRCm39) N476S possibly damaging Het
Pclo A G 5: 14,732,268 (GRCm39) probably null Het
Plxnd1 C T 6: 115,934,558 (GRCm39) D1792N probably damaging Het
Prdm11 C T 2: 92,843,103 (GRCm39) V119M probably damaging Het
Prss23 A G 7: 89,159,416 (GRCm39) F218L probably benign Het
Rflnb A G 11: 75,913,047 (GRCm39) Y114H probably damaging Het
Skor2 T A 18: 76,946,581 (GRCm39) I101N unknown Het
Sp8 A C 12: 118,812,910 (GRCm39) Y255S possibly damaging Het
Srfbp1 G A 18: 52,621,463 (GRCm39) V175I probably benign Het
Stxbp5 C T 10: 9,693,050 (GRCm39) D359N probably null Het
Thnsl1 A G 2: 21,217,733 (GRCm39) I496V possibly damaging Het
Usp32 G A 11: 84,908,653 (GRCm39) P1018S possibly damaging Het
Usp7 A T 16: 8,529,939 (GRCm39) V142E possibly 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
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
R9620:Ilkap UTSW 1 91,303,973 (GRCm39) missense
R9694:Ilkap UTSW 1 91,303,973 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCTGAGGCCATGAGTTCAAAAC -3'
(R):5'- ATGGACTGTGACTGTTGGAAAC -3'

Sequencing Primer
(F):5'- GGCCATGAGTTCAAAACTTAAAAGAC -3'
(R):5'- TATAGAAAATAGCTGTCCTGACGAG -3'
Posted On 2021-01-18