Incidental Mutation 'R5659:Gipc1'
ID 443982
Institutional Source Beutler Lab
Gene Symbol Gipc1
Ensembl Gene ENSMUSG00000019433
Gene Name GIPC PDZ domain containing family, member 1
Synonyms Glut1CIP, TaxIP2, neurophilin1-IP, Rgs19ip1, Semcap1, TIP-2, synectin
MMRRC Submission 043303-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # R5659 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84379306-84391323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84390755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 287 (M287L)
Ref Sequence ENSEMBL: ENSMUSP00000019577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000019577] [ENSMUST00000019608] [ENSMUST00000211985] [ENSMUST00000212463]
AlphaFold Q9Z0G0
Predicted Effect probably benign
Transcript: ENSMUST00000005616
SMART Domains Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Hr1 37 101 6.74e-20 SMART
Hr1 126 194 1.13e-21 SMART
Hr1 216 284 7.79e-25 SMART
C2 328 464 2.45e-1 SMART
low complexity region 569 601 N/A INTRINSIC
S_TKc 619 878 2.83e-96 SMART
S_TK_X 879 943 5.29e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019577
AA Change: M287L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019577
Gene: ENSMUSG00000019433
AA Change: M287L

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 47 58 N/A INTRINSIC
PDZ 141 215 9.07e-13 SMART
low complexity region 236 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019608
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464

DomainStartEndE-ValueType
Pfam:7tm_1 52 354 2.3e-17 PFAM
low complexity region 356 372 N/A INTRINSIC
low complexity region 392 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159935
Predicted Effect probably benign
Transcript: ENSMUST00000211985
Predicted Effect probably benign
Transcript: ENSMUST00000212463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212519
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele display reduced body and heart weight, selective arteriogenesis and arterial endothelial cell defects, and impaired cardiac performance and wound healing. Mice homozygous for a knock-out allele exhibit low molecular weight proteinuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T C 18: 36,694,103 (GRCm39) S105P probably damaging Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Ap3b2 T A 7: 81,126,500 (GRCm39) I367F probably damaging Het
Apaf1 A T 10: 90,898,015 (GRCm39) C247* probably null Het
Aqp8 G A 7: 123,065,889 (GRCm39) W228* probably null Het
Arhgap32 T A 9: 32,093,256 (GRCm39) V178D probably damaging Het
Atp10b T A 11: 43,136,252 (GRCm39) W1127R probably damaging Het
Bcl6 A T 16: 23,787,159 (GRCm39) C580* probably null Het
Brd1 T C 15: 88,597,584 (GRCm39) T568A probably benign Het
Brsk1 C T 7: 4,718,371 (GRCm39) P665L possibly damaging Het
Cblc A G 7: 19,526,857 (GRCm39) L125P probably damaging Het
Ccdc87 T C 19: 4,890,878 (GRCm39) S457P probably damaging Het
Cxcr5 C T 9: 44,424,690 (GRCm39) M322I probably benign Het
Cyb5r4 T A 9: 86,937,881 (GRCm39) F300Y probably benign Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dhx9 A G 1: 153,347,481 (GRCm39) V409A probably damaging Het
Dnah7b A G 1: 46,392,009 (GRCm39) D3790G probably damaging Het
Gin1 A G 1: 97,703,257 (GRCm39) T27A possibly damaging Het
Kat6a T A 8: 23,428,176 (GRCm39) L1177* probably null Het
Klhl20 A G 1: 160,918,040 (GRCm39) V82A probably damaging Het
Kmt2e T C 5: 23,702,805 (GRCm39) I995T probably damaging Het
Lpin1 A T 12: 16,590,990 (GRCm39) V814E probably damaging Het
Luzp1 T A 4: 136,269,787 (GRCm39) V670D probably damaging Het
Lyst C A 13: 13,809,212 (GRCm39) A294E possibly damaging Het
Olr1 T A 6: 129,476,992 (GRCm39) E91V probably damaging Het
Or1j1 A T 2: 36,702,966 (GRCm39) I46N probably damaging Het
Or2k2 A T 4: 58,785,672 (GRCm39) F17I probably damaging Het
Or8b55 C T 9: 38,727,072 (GRCm39) T91I probably benign Het
Pam T C 1: 97,770,024 (GRCm39) Y476C probably damaging Het
Pcdhac1 T C 18: 37,225,470 (GRCm39) L761P probably damaging Het
Phf21b C T 15: 84,678,101 (GRCm39) W300* probably null Het
Pld2 T C 11: 70,448,387 (GRCm39) *945Q probably null Het
Ppp1r37 C T 7: 19,269,448 (GRCm39) V145M probably damaging Het
Rasgrf1 T A 9: 89,866,342 (GRCm39) N593K probably damaging Het
Rhot1 T G 11: 80,141,181 (GRCm39) probably null Het
Rmnd1 A T 10: 4,377,382 (GRCm39) M99K probably benign Het
Ros1 G A 10: 52,019,482 (GRCm39) T697I possibly damaging Het
Scgb1b10 G T 7: 31,800,303 (GRCm39) A4S probably benign Het
Shc3 T C 13: 51,670,630 (GRCm39) Y39C probably damaging Het
Slc25a23 A G 17: 57,352,500 (GRCm39) probably benign Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Sqor G A 2: 122,629,523 (GRCm39) C127Y probably benign Het
Sv2a G C 3: 96,097,619 (GRCm39) W467S possibly damaging Het
Togaram2 G T 17: 71,994,667 (GRCm39) D39Y probably damaging Het
Tspan11 T A 6: 127,915,240 (GRCm39) probably null Het
Usp32 A G 11: 84,968,240 (GRCm39) V141A possibly damaging Het
Zbtb38 T C 9: 96,569,473 (GRCm39) H537R probably damaging Het
Zfat T C 15: 67,990,862 (GRCm39) Y1008C probably damaging Het
Zfp637 G A 6: 117,820,291 (GRCm39) G3E probably damaging Het
Zfp788 T A 7: 41,299,540 (GRCm39) Y673* probably null Het
Zhx2 T C 15: 57,685,704 (GRCm39) S358P probably benign Het
Other mutations in Gipc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Gipc1 APN 8 84,389,780 (GRCm39) missense probably damaging 0.98
R1486:Gipc1 UTSW 8 84,387,808 (GRCm39) nonsense probably null
R1487:Gipc1 UTSW 8 84,387,808 (GRCm39) nonsense probably null
R4849:Gipc1 UTSW 8 84,388,756 (GRCm39) missense probably benign 0.03
R7186:Gipc1 UTSW 8 84,390,762 (GRCm39) missense possibly damaging 0.94
R7922:Gipc1 UTSW 8 84,387,857 (GRCm39) missense probably benign
R8811:Gipc1 UTSW 8 84,388,919 (GRCm39) missense possibly damaging 0.53
R8978:Gipc1 UTSW 8 84,389,046 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCCTATCACAGTACTGTTGACG -3'
(R):5'- TCAAGGTCCAGGTTCAGTTCC -3'

Sequencing Primer
(F):5'- CCTTTGAGGAGAAGGCCATTG -3'
(R):5'- CAGTTCCAGTCTTAGTAGCGGC -3'
Posted On 2016-11-09