Incidental Mutation 'R1175:Glipr1l2'
ID99976
Institutional Source Beutler Lab
Gene Symbol Glipr1l2
Ensembl Gene ENSMUSG00000020214
Gene NameGLI pathogenesis-related 1 like 2
Synonyms
MMRRC Submission 039248-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #R1175 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location112083354-112108098 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 112083466 bp
ZygosityHeterozygous
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]
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: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
3110043O21Rik C A 4: 35,218,630 E76D probably damaging Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
A430078G23Rik T A 8: 3,389,023 probably benign Het
Abca17 T C 17: 24,289,351 E1070G possibly damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Anapc1 C A 2: 128,680,188 C150F probably damaging Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cntnap5c C A 17: 58,364,246 T1143K possibly damaging Het
Col7a1 A C 9: 108,955,334 T137P unknown Het
Defb8 C T 8: 19,445,894 G50E probably damaging Het
Dimt1 T A 13: 106,949,685 probably benign Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eci2 G T 13: 34,993,104 N24K probably damaging Het
Fbn1 A T 2: 125,394,687 C358S probably benign Het
Fbxl13 A T 5: 21,620,604 probably benign Het
Fbxw11 T C 11: 32,711,922 C121R probably damaging Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gab1 C A 8: 80,784,842 R458L probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Itpkc T C 7: 27,227,770 I240V probably benign Het
Jakmip3 A G 7: 139,027,786 D552G probably damaging Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kdm3a T C 6: 71,600,027 E768G possibly damaging Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mast1 T C 8: 84,925,327 E342G probably benign Het
Mgat5b T C 11: 116,977,796 L515P probably damaging Het
Mink1 A G 11: 70,611,340 D985G probably benign Het
Mphosph9 A G 5: 124,315,676 V191A possibly damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Papd5 T A 8: 88,252,007 F445L probably damaging Het
Pcnt A T 10: 76,393,044 probably null Het
Psmd8 A T 7: 29,176,173 Y174N probably damaging Het
Ptgdr2 C A 19: 10,940,928 R270S possibly damaging Het
Rasal2 A G 1: 157,147,648 M1172T probably damaging Het
Rif1 A G 2: 52,107,628 probably benign Het
Rnf123 C T 9: 108,077,373 R48H probably benign Het
Rsrc1 T C 3: 67,356,218 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sis A G 3: 72,958,104 probably benign Het
Skint4 T C 4: 112,124,596 M246T probably benign Het
Snrnp200 C A 2: 127,229,077 R1093S probably damaging Het
Sp100 A G 1: 85,701,420 N471D possibly damaging Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Sufu T C 19: 46,401,264 probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Synpo2l G A 14: 20,668,167 T10I possibly damaging Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Terb1 G A 8: 104,484,306 T363I probably benign Het
Timd4 C T 11: 46,817,671 P175S probably damaging Het
Tlr3 C A 8: 45,397,134 V833L probably damaging Het
Tpst2 T A 5: 112,308,045 M150K probably damaging Het
Trim67 T A 8: 124,817,035 V378E probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Uimc1 G A 13: 55,028,602 T701I possibly damaging Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn1r60 A G 7: 5,544,622 S160P probably benign Het
Vmn2r66 G T 7: 85,005,591 D503E probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Zfp457 G A 13: 67,293,684 P180S probably damaging Het
Other mutations in Glipr1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Glipr1l2 APN 10 112097982 missense probably benign
IGL02236:Glipr1l2 APN 10 112092629 missense probably damaging 1.00
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
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
R7593:Glipr1l2 UTSW 10 112092560 missense probably damaging 0.98
R8503:Glipr1l2 UTSW 10 112107170 missense probably benign 0.01
Predicted Primers
Posted On2014-01-15