Incidental Mutation 'R1174:Glipr1l2'
ID 99831
Institutional Source Beutler Lab
Gene Symbol Glipr1l2
Ensembl Gene ENSMUSG00000020214
Gene Name GLI pathogenesis-related 1 like 2
Synonyms 4921508O11Rik
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 111919259-111944003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111919371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 31 (L31I)
Ref Sequence ENSEMBL: ENSMUSP00000122771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020434] [ENSMUST00000073617] [ENSMUST00000148897]
AlphaFold Q9CQ35
Predicted Effect possibly damaging
Transcript: ENSMUST00000020434
AA Change: L31I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
AA Change: L31I

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
SCP 49 199 7.3e-30 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 303 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073617
SMART Domains Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213

DomainStartEndE-ValueType
SCP 40 186 6.52e-50 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000148897
AA Change: L31I

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214
AA Change: L31I

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
SCP 49 199 7.3e-30 SMART
Meta Mutation Damage Score 0.1755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Glipr1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Glipr1l2 APN 10 111,933,887 (GRCm39) missense probably benign
IGL02236:Glipr1l2 APN 10 111,928,534 (GRCm39) missense probably damaging 1.00
IGL02683:Glipr1l2 APN 10 111,919,381 (GRCm39) missense probably benign
PIT1430001:Glipr1l2 UTSW 10 111,942,745 (GRCm39) missense probably benign 0.02
R0450:Glipr1l2 UTSW 10 111,928,477 (GRCm39) missense probably benign 0.02
R1172:Glipr1l2 UTSW 10 111,919,371 (GRCm39) missense possibly damaging 0.91
R1173:Glipr1l2 UTSW 10 111,919,371 (GRCm39) missense possibly damaging 0.91
R1175:Glipr1l2 UTSW 10 111,919,371 (GRCm39) missense possibly damaging 0.91
R1743:Glipr1l2 UTSW 10 111,928,470 (GRCm39) missense probably benign 0.01
R1918:Glipr1l2 UTSW 10 111,928,550 (GRCm39) nonsense probably null
R4879:Glipr1l2 UTSW 10 111,943,029 (GRCm39) missense probably benign 0.01
R4964:Glipr1l2 UTSW 10 111,942,904 (GRCm39) missense possibly damaging 0.49
R5122:Glipr1l2 UTSW 10 111,942,961 (GRCm39) missense possibly damaging 0.94
R6059:Glipr1l2 UTSW 10 111,919,423 (GRCm39) missense probably benign 0.01
R7102:Glipr1l2 UTSW 10 111,928,330 (GRCm39) critical splice acceptor site probably null
R7593:Glipr1l2 UTSW 10 111,928,465 (GRCm39) missense probably damaging 0.98
R8503:Glipr1l2 UTSW 10 111,943,075 (GRCm39) missense probably benign 0.01
R9658:Glipr1l2 UTSW 10 111,942,868 (GRCm39) missense probably damaging 0.96
R9793:Glipr1l2 UTSW 10 111,942,905 (GRCm39) missense probably benign 0.08
Predicted Primers
Posted On 2014-01-15