Incidental Mutation 'R1366:Ilkap'
ID 156020
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 039431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R1366 (G1)
Quality Score 147
Status Validated
Chromosome 1
Chromosomal Location 91301583-91326537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91314937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 142 (I142T)
Ref Sequence ENSEMBL: ENSMUSP00000027534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000190519] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190747]
AlphaFold Q8R0F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027534
AA Change: I142T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: I142T

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 noncoding transcript
Transcript: ENSMUST00000186433
Predicted Effect probably benign
Transcript: ENSMUST00000186986
SMART Domains Protein: ENSMUSP00000140074
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2Cc 7 72 9e-24 BLAST
low complexity region 83 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187105
Predicted Effect probably benign
Transcript: ENSMUST00000187231
Predicted Effect possibly damaging
Transcript: ENSMUST00000190519
AA Change: I136T

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309
AA Change: I136T

DomainStartEndE-ValueType
Blast:PP2C_SIG 26 136 2e-36 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189651
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
Meta Mutation Damage Score 0.0918 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 92.3%
  • 20x: 80.8%
Validation Efficiency 93% (43/46)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,651 (GRCm39) S297T probably benign Het
Acsm1 T C 7: 119,257,511 (GRCm39) probably benign Het
Ankar T A 1: 72,737,808 (GRCm39) N125Y probably damaging Het
Ccdc121 T A 5: 31,644,861 (GRCm39) C205S probably benign Het
Chd1l T C 3: 97,488,465 (GRCm39) D517G probably damaging Het
Cir1 A T 2: 73,136,757 (GRCm39) probably benign Het
Cpxm1 G A 2: 130,238,042 (GRCm39) R136W probably damaging Het
Dnah10 A T 5: 124,830,390 (GRCm39) E761D probably benign Het
Fam186a T A 15: 99,841,270 (GRCm39) E1658V possibly damaging Het
Fam98a A G 17: 75,846,381 (GRCm39) probably benign Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Frmd6 T C 12: 70,934,663 (GRCm39) probably benign Het
Gmpr2 T C 14: 55,914,200 (GRCm39) probably benign Het
Hck G A 2: 152,980,215 (GRCm39) G348D probably damaging Het
Ifnab T A 4: 88,609,337 (GRCm39) Q43L possibly damaging Het
Lamc3 T C 2: 31,818,859 (GRCm39) S1206P probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mid1 A C X: 168,769,090 (GRCm39) N215H probably damaging Het
Mkrn1 T C 6: 39,382,851 (GRCm39) T134A probably benign Het
Mmp9 T A 2: 164,795,262 (GRCm39) V628E probably damaging Het
Msi2 A T 11: 88,607,406 (GRCm39) V67D probably damaging Het
Ncapd3 T A 9: 26,969,236 (GRCm39) V630E probably damaging Het
Nkain1 A G 4: 130,537,316 (GRCm38) V73A probably damaging Het
Nphp4 T A 4: 152,587,383 (GRCm39) D245E probably damaging Het
Or14j3 T C 17: 37,900,655 (GRCm39) I196M probably benign Het
Or7a41 T G 10: 78,870,876 (GRCm39) M82R probably damaging Het
Or9g8 G A 2: 85,607,348 (GRCm39) C140Y probably benign Het
Pkd1l1 T C 11: 8,891,038 (GRCm39) probably benign Het
Plcxd1 A C 5: 110,250,096 (GRCm39) I184L probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Scube2 A G 7: 109,403,821 (GRCm39) Y890H probably damaging Het
Slco6c1 T A 1: 97,055,928 (GRCm39) probably null Het
Tnfaip2 T G 12: 111,415,756 (GRCm39) F485V probably benign Het
Tpd52 T C 3: 9,028,993 (GRCm39) D17G probably damaging Het
Ube4b T C 4: 149,419,606 (GRCm39) D1034G probably damaging Het
Vmn2r118 G A 17: 55,900,237 (GRCm39) Q556* probably null Het
Zftraf1 T C 15: 76,533,169 (GRCm39) R190G 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
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
R9620:Ilkap UTSW 1 91,303,973 (GRCm39) missense
R9694:Ilkap UTSW 1 91,303,973 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGGGCAGTCCCTTGTTTAGCAATG -3'
(R):5'- CTTTGTGGCAGAACCCTGAATTGTG -3'

Sequencing Primer
(F):5'- CTACTCCAAAAATATCCTCAGATGG -3'
(R):5'- TAGGCTGCCGTAGTACCTC -3'
Posted On 2014-02-11