Incidental Mutation 'R4005:Ilkap'
ID 311410
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R4005 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 91301583-91326537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91312985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 170 (N170I)
Ref Sequence ENSEMBL: ENSMUSP00000027534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000187306] [ENSMUST00000187678] [ENSMUST00000190747] [ENSMUST00000190519]
AlphaFold Q8R0F6
Predicted Effect probably benign
Transcript: ENSMUST00000027534
AA Change: N170I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: N170I

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000190519
SMART Domains Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2C_SIG 26 136 2e-36 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T A 3: 89,657,094 (GRCm39) L488Q probably damaging Het
Ajm1 T C 2: 25,468,868 (GRCm39) T348A probably benign Het
Arhgef26 T C 3: 62,247,816 (GRCm39) M300T probably benign Het
Asl C T 5: 130,047,673 (GRCm39) probably null Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cdhr3 T C 12: 33,130,355 (GRCm39) D160G probably damaging Het
Cep290 A G 10: 100,374,870 (GRCm39) E1372G probably damaging Het
Cpeb2 A G 5: 43,395,755 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,875,390 (GRCm39) A530T probably damaging Het
Cstl1 A T 2: 148,597,190 (GRCm39) I64F probably damaging Het
Ddx28 C G 8: 106,737,560 (GRCm39) R166P possibly damaging Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Edem3 T C 1: 151,635,506 (GRCm39) M60T probably damaging Het
Farp1 C T 14: 121,513,809 (GRCm39) R844W probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Hmcn1 C G 1: 150,598,204 (GRCm39) L1699F possibly damaging Het
Igsf10 A T 3: 59,235,981 (GRCm39) L1400H probably benign Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Kctd3 T G 1: 188,734,124 (GRCm39) I39L possibly damaging Het
Lrit3 C A 3: 129,585,021 (GRCm39) V246L probably benign Het
Magi1 A G 6: 93,678,299 (GRCm39) I619T probably damaging Het
Map1b G T 13: 99,566,415 (GRCm39) P2102H unknown Het
Mcm10 G T 2: 5,005,814 (GRCm39) S440R probably damaging Het
Mtss2 CG CGG 8: 111,465,673 (GRCm39) probably null Het
Nlrp9a A G 7: 26,257,975 (GRCm39) N531S probably benign Het
Nrcam T A 12: 44,579,429 (GRCm39) D31E probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ogn A C 13: 49,762,775 (GRCm39) E39A possibly damaging Het
Or4g17 G A 2: 111,210,088 (GRCm39) V248I probably benign Het
Or52z14 A G 7: 103,253,470 (GRCm39) Y203C probably damaging Het
Or5b94 A T 19: 12,652,210 (GRCm39) I214L probably benign Het
Pramel20 A G 4: 143,298,839 (GRCm39) T261A probably benign Het
Rgs2 T A 1: 143,877,606 (GRCm39) I150L probably benign Het
Rnf19a A T 15: 36,245,774 (GRCm39) D490E probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Ulk4 A T 9: 120,997,265 (GRCm39) L769Q possibly damaging Het
Ythdc2 A G 18: 44,966,195 (GRCm39) S144G probably benign 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
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'- TGAACCCTAAGCTCAGACTTTC -3'
(R):5'- TGTGACTGGTATCTCAACAATGTG -3'

Sequencing Primer
(F):5'- TACCCAGTATACGTAGTCCTGAGG -3'
(R):5'- GTGTAATCTCAGCACACCTGG -3'
Posted On 2015-04-29