Incidental Mutation 'IGL00163:Gipc2'
ID 1748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gipc2
Ensembl Gene ENSMUSG00000039131
Gene Name GIPC PDZ domain containing family, member 2
Synonyms Semcap2, 2200002N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL00163
Quality Score
Status
Chromosome 3
Chromosomal Location 151799476-151871537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151843215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 141 (I141V)
Ref Sequence ENSEMBL: ENSMUSP00000037328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046614]
AlphaFold Q9Z2H7
Predicted Effect probably damaging
Transcript: ENSMUST00000046614
AA Change: I141V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: I141V

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
PDZ 125 199 7.04e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200501
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,786,310 (GRCm39) Q103* probably null Het
4933406P04Rik C A 10: 20,186,970 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,343,194 (GRCm39) E251G probably damaging Het
Ago2 T C 15: 72,998,302 (GRCm39) H292R probably benign Het
Akr1c6 T C 13: 4,498,977 (GRCm39) probably benign Het
Arhgap24 T A 5: 103,008,265 (GRCm39) M62K possibly damaging Het
Bicd1 A G 6: 149,451,888 (GRCm39) H834R possibly damaging Het
Ccdc77 G T 6: 120,306,045 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,818,818 (GRCm39) H337N probably damaging Het
Cep192 A G 18: 68,013,871 (GRCm39) T2424A possibly damaging Het
Cep78 T C 19: 15,946,504 (GRCm39) T443A probably benign Het
Chrna1 T A 2: 73,400,986 (GRCm39) E181D probably benign Het
Dmxl1 G A 18: 49,984,534 (GRCm39) D177N probably damaging Het
Eif3h T A 15: 51,650,195 (GRCm39) I330F probably damaging Het
Fam184b T C 5: 45,697,091 (GRCm39) E691G probably benign Het
Fastkd1 T A 2: 69,537,893 (GRCm39) S230C probably benign Het
Hsd17b2 A T 8: 118,485,410 (GRCm39) D291V probably damaging Het
Itpr2 G A 6: 146,292,334 (GRCm39) A420V possibly damaging Het
Jag1 C T 2: 136,927,952 (GRCm39) probably null Het
Minar1 A T 9: 89,473,150 (GRCm39) probably benign Het
Mmp1b T A 9: 7,387,946 (GRCm39) Y16F probably benign Het
Muc4 G T 16: 32,754,090 (GRCm38) R1322M probably benign Het
Myo9b T C 8: 71,801,379 (GRCm39) I1179T probably benign Het
Nos1ap A G 1: 170,342,175 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,174,199 (GRCm39) V702E probably damaging Het
Or13d1 G A 4: 52,971,058 (GRCm39) V146M possibly damaging Het
Or1j21 A G 2: 36,684,012 (GRCm39) I255V probably benign Het
Or2ag17 T A 7: 106,389,796 (GRCm39) R137S probably benign Het
Or2y10 A C 11: 49,454,747 (GRCm39) probably benign Het
Or4c31 A T 2: 88,291,696 (GRCm39) Y4F probably benign Het
Or4f7 A C 2: 111,644,126 (GRCm39) probably benign Het
Osmr A T 15: 6,873,926 (GRCm39) L157* probably null Het
Pdzph1 T C 17: 59,281,791 (GRCm39) T164A possibly damaging Het
Ptn T C 6: 36,720,424 (GRCm39) K43E probably benign Het
Rbm45 T C 2: 76,209,051 (GRCm39) V340A probably damaging Het
Rnf5 C T 17: 34,821,083 (GRCm39) G83E probably damaging Het
Scin G T 12: 40,126,971 (GRCm39) Q459K probably benign Het
Serpina5 C A 12: 104,071,479 (GRCm39) A362D probably damaging Het
Tex47 T A 5: 7,355,468 (GRCm39) Y216* probably null Het
Tll1 A T 8: 64,469,170 (GRCm39) H984Q probably benign Het
Tmem259 A G 10: 79,815,568 (GRCm39) V81A probably benign Het
Tns3 A T 11: 8,401,066 (GRCm39) S1077R probably benign Het
Trgv3 G A 13: 19,427,381 (GRCm39) S88N probably benign Het
Ttc17 A G 2: 94,153,428 (GRCm39) probably benign Het
Tubgcp2 T C 7: 139,610,935 (GRCm39) T149A possibly damaging Het
Ulk1 G A 5: 110,935,738 (GRCm39) A25V probably damaging Het
Vps13d T C 4: 144,895,110 (GRCm39) E378G probably damaging Het
Vsig10 A G 5: 117,476,479 (GRCm39) N311S probably benign Het
Zfp511 T C 7: 139,617,429 (GRCm39) Y144H possibly damaging Het
Other mutations in Gipc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Gipc2 APN 3 151,808,294 (GRCm39) missense possibly damaging 0.66
IGL01524:Gipc2 APN 3 151,843,214 (GRCm39) missense probably damaging 1.00
IGL01690:Gipc2 APN 3 151,833,771 (GRCm39) missense probably damaging 1.00
IGL01697:Gipc2 APN 3 151,843,245 (GRCm39) missense probably benign 0.22
IGL02223:Gipc2 APN 3 151,833,687 (GRCm39) missense probably damaging 1.00
R0400:Gipc2 UTSW 3 151,871,305 (GRCm39) missense probably damaging 0.99
R0490:Gipc2 UTSW 3 151,808,291 (GRCm39) missense possibly damaging 0.90
R1119:Gipc2 UTSW 3 151,799,833 (GRCm39) missense probably damaging 1.00
R1168:Gipc2 UTSW 3 151,813,634 (GRCm39) missense probably benign 0.10
R1663:Gipc2 UTSW 3 151,799,801 (GRCm39) missense probably benign
R2365:Gipc2 UTSW 3 151,833,831 (GRCm39) missense possibly damaging 0.89
R2434:Gipc2 UTSW 3 151,843,317 (GRCm39) missense probably benign 0.01
R3816:Gipc2 UTSW 3 151,871,481 (GRCm39) missense probably benign 0.02
R3835:Gipc2 UTSW 3 151,833,823 (GRCm39) missense probably damaging 0.98
R5069:Gipc2 UTSW 3 151,799,885 (GRCm39) missense probably benign 0.12
R5240:Gipc2 UTSW 3 151,808,299 (GRCm39) missense possibly damaging 0.73
R5625:Gipc2 UTSW 3 151,871,541 (GRCm39) utr 5 prime probably benign
R6646:Gipc2 UTSW 3 151,799,838 (GRCm39) missense possibly damaging 0.61
R6956:Gipc2 UTSW 3 151,799,885 (GRCm39) missense probably benign 0.12
R7258:Gipc2 UTSW 3 151,871,352 (GRCm39) missense probably damaging 1.00
R7259:Gipc2 UTSW 3 151,833,693 (GRCm39) missense probably damaging 0.99
R8035:Gipc2 UTSW 3 151,799,866 (GRCm39) missense probably damaging 0.96
R9440:Gipc2 UTSW 3 151,833,706 (GRCm39) missense possibly damaging 0.79
Posted On 2011-07-12