Incidental Mutation 'IGL02236:Glipr1l2'
ID285892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glipr1l2
Ensembl Gene ENSMUSG00000020214
Gene NameGLI pathogenesis-related 1 like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02236
Quality Score
Status
Chromosome10
Chromosomal Location112083354-112108098 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112092629 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 143 (Y143C)
Ref Sequence ENSEMBL: ENSMUSP00000122771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020434] [ENSMUST00000148897]
Predicted Effect probably damaging
Transcript: ENSMUST00000020434
AA Change: Y143C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
AA Change: Y143C

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 damaging
Transcript: ENSMUST00000148897
AA Change: Y143C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214
AA Change: Y143C

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
SCP 49 199 7.3e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162341
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Myf5 A G 10: 107,484,190 S200P possibly damaging Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Pramef8 G A 4: 143,416,942 V93I probably benign Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Reg2 A G 6: 78,406,205 E45G probably damaging Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Smap2 T A 4: 120,975,390 M185L probably benign Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Glipr1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Glipr1l2 APN 10 112097982 missense probably benign
IGL02683:Glipr1l2 APN 10 112083476 missense probably benign
PIT1430001:Glipr1l2 UTSW 10 112106840 missense probably benign 0.02
R0450:Glipr1l2 UTSW 10 112092572 missense probably benign 0.02
R1172:Glipr1l2 UTSW 10 112083466 missense possibly damaging 0.91
R1173:Glipr1l2 UTSW 10 112083466 missense possibly damaging 0.91
R1174:Glipr1l2 UTSW 10 112083466 missense possibly damaging 0.91
R1175:Glipr1l2 UTSW 10 112083466 missense possibly damaging 0.91
R1743:Glipr1l2 UTSW 10 112092565 missense probably benign 0.01
R1918:Glipr1l2 UTSW 10 112092645 nonsense probably null
R4879:Glipr1l2 UTSW 10 112107124 missense probably benign 0.01
R4964:Glipr1l2 UTSW 10 112106999 missense possibly damaging 0.49
R5122:Glipr1l2 UTSW 10 112107056 missense possibly damaging 0.94
R6059:Glipr1l2 UTSW 10 112083518 missense probably benign 0.01
R7102:Glipr1l2 UTSW 10 112092425 critical splice acceptor site probably null
Posted On2015-04-16