Incidental Mutation 'R1552:Ilkap'
ID 169970
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 039591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R1552 (G1)
Quality Score 126
Status Validated
Chromosome 1
Chromosomal Location 91301583-91326537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91312316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 11 (D11E)
Ref Sequence ENSEMBL: ENSMUSP00000140905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027534] [ENSMUST00000186986] [ENSMUST00000190747] [ENSMUST00000190519] [ENSMUST00000187678] [ENSMUST00000187306]
AlphaFold Q8R0F6
Predicted Effect probably damaging
Transcript: ENSMUST00000027534
AA Change: D199E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027534
Gene: ENSMUSG00000026309
AA Change: D199E

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 probably damaging
Transcript: ENSMUST00000190747
AA Change: D11E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140905
Gene: ENSMUSG00000026309
AA Change: D11E

DomainStartEndE-ValueType
PP2Cc 1 164 7.3e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191230
Predicted Effect probably benign
Transcript: ENSMUST00000190519
SMART Domains Protein: ENSMUSP00000140048
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2C_SIG 26 136 2e-36 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000187678
Predicted Effect probably benign
Transcript: ENSMUST00000187306
SMART Domains Protein: ENSMUSP00000139834
Gene: ENSMUSG00000026309

DomainStartEndE-ValueType
Blast:PP2Cc 7 73 2e-24 BLAST
Meta Mutation Damage Score 0.8317 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (71/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,217,617 (GRCm39) I365F probably damaging Het
Abhd15 T C 11: 77,406,233 (GRCm39) L70P probably damaging Het
Adam18 A C 8: 25,136,377 (GRCm39) H381Q probably benign Het
Ankfy1 T C 11: 72,645,321 (GRCm39) probably null Het
Arcn1 C T 9: 44,670,291 (GRCm39) A112T probably damaging Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Calhm1 C T 19: 47,129,640 (GRCm39) R294H probably benign Het
Ccdc121rt1 A G 1: 181,338,556 (GRCm39) L132P probably damaging Het
Cdk5rap1 T C 2: 154,212,615 (GRCm39) E81G probably benign Het
Cep170 T C 1: 176,610,060 (GRCm39) probably benign Het
Cep350 C T 1: 155,786,484 (GRCm39) R1454Q possibly damaging Het
Chrna3 C A 9: 54,923,192 (GRCm39) E205D probably benign Het
Chst5 T C 8: 112,616,912 (GRCm39) D236G probably damaging Het
Coro1a T C 7: 126,299,124 (GRCm39) N367D probably benign Het
Cyp3a16 T C 5: 145,373,346 (GRCm39) I474V probably benign Het
Cyth3 G A 5: 143,683,505 (GRCm39) V87I probably benign Het
Dclk3 C A 9: 111,317,647 (GRCm39) T761K probably damaging Het
Dvl2 T A 11: 69,897,198 (GRCm39) M300K possibly damaging Het
Eefsec C T 6: 88,353,182 (GRCm39) probably benign Het
Exog T C 9: 119,274,176 (GRCm39) S54P unknown Het
Fasn A G 11: 120,709,384 (GRCm39) S519P probably damaging Het
Gas8 G A 8: 124,247,385 (GRCm39) A16T probably benign Het
Got2 A G 8: 96,596,122 (GRCm39) S333P probably benign Het
Hadhb T A 5: 30,381,931 (GRCm39) L287Q probably null Het
Ift57 A G 16: 49,579,716 (GRCm39) T211A probably benign Het
Il1rap A G 16: 26,541,184 (GRCm39) E475G possibly damaging Het
Impact T C 18: 13,117,337 (GRCm39) S137P probably benign Het
Jarid2 T C 13: 45,064,675 (GRCm39) V920A probably damaging Het
Kcnk18 A T 19: 59,223,890 (GRCm39) H345L probably damaging Het
Kdm4d A T 9: 14,375,325 (GRCm39) Y178N probably damaging Het
Klk1b1 A G 7: 43,618,767 (GRCm39) Y48C probably damaging Het
Klra5 G T 6: 129,886,848 (GRCm39) T60K probably damaging Het
Kng2 A T 16: 22,806,270 (GRCm39) L643H probably damaging Het
Lamb3 A G 1: 193,013,067 (GRCm39) probably null Het
Lingo2 A G 4: 35,708,315 (GRCm39) V555A probably damaging Het
Mbd5 T C 2: 49,162,946 (GRCm39) S251P probably damaging Het
Mc4r T C 18: 66,992,766 (GRCm39) S116G probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Myo15b A C 11: 115,757,461 (GRCm39) S1104R probably benign Het
Nek1 T A 8: 61,459,771 (GRCm39) D26E probably damaging Het
Neu1 C T 17: 35,151,089 (GRCm39) probably benign Het
Npffr2 T C 5: 89,730,975 (GRCm39) S302P possibly damaging Het
Or8b48 T C 9: 38,492,675 (GRCm39) M34T probably benign Het
Palmd T A 3: 116,741,689 (GRCm39) probably benign Het
Pcdh8 A T 14: 80,008,047 (GRCm39) V172E probably benign Het
Pnpla6 C A 8: 3,572,403 (GRCm39) Q291K probably damaging Het
Pou2af2 T A 9: 51,202,870 (GRCm39) S95C probably damaging Het
Prkch T C 12: 73,749,320 (GRCm39) F357L probably benign Het
Ptprj A T 2: 90,301,497 (GRCm39) Y212N probably damaging Het
Reln G T 5: 22,165,376 (GRCm39) H2061N probably benign Het
Rint1 T A 5: 24,005,656 (GRCm39) S113T probably benign Het
Rnf38 G C 4: 44,142,468 (GRCm39) probably null Het
Slc30a4 T A 2: 122,527,936 (GRCm39) I374L probably benign Het
Slfn10-ps T C 11: 82,920,676 (GRCm39) noncoding transcript Het
Smcp A T 3: 92,491,710 (GRCm39) C46S unknown Het
Smu1 A C 4: 40,748,570 (GRCm39) V240G probably damaging Het
Srsf5 A G 12: 80,996,519 (GRCm39) probably benign Het
Stn1 T C 19: 47,524,812 (GRCm39) probably null Het
Stx18 A G 5: 38,262,335 (GRCm39) E63G probably damaging Het
Tas2r130 A G 6: 131,607,130 (GRCm39) Y222H probably benign Het
Tescl G T 7: 24,032,758 (GRCm39) P189Q probably benign Het
Tlr1 A G 5: 65,084,203 (GRCm39) S125P probably damaging Het
Ugt2a2 G T 5: 87,609,880 (GRCm39) D566E possibly damaging Het
Unc13b A T 4: 43,237,144 (GRCm39) T3405S probably damaging Het
Upf1 G A 8: 70,785,709 (GRCm39) Q1046* probably null Het
Wwox T A 8: 115,172,090 (GRCm39) Y61* probably null Het
Zfhx4 C T 3: 5,468,170 (GRCm39) T2776M probably damaging Het
Zranb3 G A 1: 127,888,488 (GRCm39) 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
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'- TGGCAATCATCCTGACTGGCTTC -3'
(R):5'- ACATCGGAATTGCATGGCGCTC -3'

Sequencing Primer
(F):5'- TGACTGGCTTCCCGCTG -3'
(R):5'- TTGCATGGCGCTCCTACAG -3'
Posted On 2014-04-13