Incidental Mutation 'R6646:Gipc2'
ID 527969
Institutional Source Beutler Lab
Gene Symbol Gipc2
Ensembl Gene ENSMUSG00000039131
Gene Name GIPC PDZ domain containing family, member 2
Synonyms Semcap2, 2200002N01Rik
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R6646 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 151799476-151871537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151799838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 297 (D297E)
Ref Sequence ENSEMBL: ENSMUSP00000037328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046614]
AlphaFold Q9Z2H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000046614
AA Change: D297E

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: D297E

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
PDZ 125 199 7.04e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200501
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null Het
Other mutations in Gipc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Gipc2 APN 3 151,843,215 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCGAAGACTGTATCTCATACACAG -3'
(R):5'- GAAATCTATCCCTGCCCCTTGG -3'

Sequencing Primer
(F):5'- GACTGTATCTCATACACAGGAGGC -3'
(R):5'- GGTAAGTAGTCATGGTCCTGCTAAC -3'
Posted On 2018-07-24