Incidental Mutation 'R5734:Glipr1'
ID 451597
Institutional Source Beutler Lab
Gene Symbol Glipr1
Ensembl Gene ENSMUSG00000056888
Gene Name GLI pathogenesis related 1
Synonyms mRTVP-1, RTVP-1, RTVP1, 2410114O14Rik
MMRRC Submission 043348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5734 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 111821353-111838536 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 111821698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 200 (R200*)
Ref Sequence ENSEMBL: ENSMUSP00000123990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074805] [ENSMUST00000161870] [ENSMUST00000162508] [ENSMUST00000163048] [ENSMUST00000174653]
AlphaFold Q9CWG1
Predicted Effect probably null
Transcript: ENSMUST00000074805
AA Change: R200*
SMART Domains Protein: ENSMUSP00000074359
Gene: ENSMUSG00000056888
AA Change: R200*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SCP 32 172 4.04e-55 SMART
transmembrane domain 222 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075924
Predicted Effect probably null
Transcript: ENSMUST00000161870
AA Change: R78*
SMART Domains Protein: ENSMUSP00000134094
Gene: ENSMUSG00000056888
AA Change: R78*

DomainStartEndE-ValueType
Pfam:CAP 1 42 9.2e-10 PFAM
low complexity region 82 93 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000162508
AA Change: R200*
SMART Domains Protein: ENSMUSP00000123990
Gene: ENSMUSG00000056888
AA Change: R200*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SCP 32 172 4.04e-55 SMART
transmembrane domain 222 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163048
SMART Domains Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 246 264 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
low complexity region 339 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174653
SMART Domains Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334

DomainStartEndE-ValueType
KH 138 210 4.85e-6 SMART
low complexity region 265 277 N/A INTRINSIC
low complexity region 282 306 N/A INTRINSIC
Meta Mutation Damage Score 0.9647 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,215,303 (GRCm39) probably benign Het
Abcc9 A G 6: 142,571,457 (GRCm39) probably benign Het
Adamts2 G A 11: 50,679,494 (GRCm39) G825R probably damaging Het
Adgre1 A T 17: 57,750,990 (GRCm39) R555W probably benign Het
Apob T A 12: 8,038,781 (GRCm39) V398D probably damaging Het
Arid4b A G 13: 14,334,856 (GRCm39) N355S probably benign Het
Asb3 G T 11: 30,979,021 (GRCm39) D143Y probably damaging Het
Birc6 G A 17: 74,925,419 (GRCm39) probably benign Het
Cacna1a A G 8: 85,310,360 (GRCm39) M1425V probably damaging Het
Capn9 A G 8: 125,332,583 (GRCm39) E474G probably damaging Het
Capza2 T C 6: 17,660,764 (GRCm39) S155P probably damaging Het
Ccdc125 A G 13: 100,823,622 (GRCm39) N202S possibly damaging Het
Ccn1 A G 3: 145,354,023 (GRCm39) C256R probably damaging Het
Chrm5 T A 2: 112,310,445 (GRCm39) T224S probably benign Het
Chtop C T 3: 90,409,422 (GRCm39) probably null Het
Clip1 T C 5: 123,753,217 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,604 (GRCm39) T14A possibly damaging Het
Dcaf8 T C 1: 172,000,478 (GRCm39) V212A possibly damaging Het
Fam114a1 T C 5: 65,166,389 (GRCm39) M240T probably damaging Het
Fat1 T C 8: 45,504,246 (GRCm39) Y4580H probably damaging Het
Gm6408 A T 5: 146,419,192 (GRCm39) Y69F probably benign Het
Gpt2 T C 8: 86,249,885 (GRCm39) S456P probably benign Het
Kat8 T C 7: 127,519,751 (GRCm39) F225S probably benign Het
Lactb2 T A 1: 13,730,611 (GRCm39) N22Y probably damaging Het
Lin28a A T 4: 133,735,284 (GRCm39) C67* probably null Het
Mtarc2 T C 1: 184,564,786 (GRCm39) E155G probably benign Het
Myoz3 G A 18: 60,712,543 (GRCm39) T104M possibly damaging Het
Nek9 C T 12: 85,350,289 (GRCm39) M928I probably benign Het
Nlrp9a G C 7: 26,270,065 (GRCm39) A831P probably damaging Het
Nop53 T C 7: 15,679,887 (GRCm39) probably null Het
Ofcc1 T A 13: 40,241,325 (GRCm39) T728S probably damaging Het
Pabpc4l T A 3: 46,401,124 (GRCm39) probably null Het
Rbm34 T C 8: 127,696,880 (GRCm39) probably null Het
Relch T C 1: 105,631,608 (GRCm39) probably benign Het
Robo2 C T 16: 74,149,672 (GRCm39) C52Y probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Scn2a A G 2: 65,548,066 (GRCm39) Y57C possibly damaging Het
Selp C T 1: 163,971,460 (GRCm39) probably benign Het
Skp2 T C 15: 9,139,566 (GRCm39) D43G possibly damaging Het
Smad5 T A 13: 56,871,617 (GRCm39) S71T probably damaging Het
Sorcs1 G T 19: 50,171,213 (GRCm39) H892N probably benign Het
Sox6 C T 7: 115,140,856 (GRCm39) probably null Het
St3gal1 A T 15: 66,978,522 (GRCm39) I333N probably damaging Het
Tex15 C A 8: 34,036,364 (GRCm39) Q97K probably benign Het
Tnxb A T 17: 34,917,884 (GRCm39) T2266S possibly damaging Het
Tpbgl C A 7: 99,274,949 (GRCm39) G303C probably damaging Het
Trat1 A T 16: 48,555,304 (GRCm39) S143T possibly damaging Het
Trpm8 T A 1: 88,283,002 (GRCm39) V763E probably benign Het
Ttc21a G A 9: 119,795,732 (GRCm39) D1189N probably benign Het
Usp7 T C 16: 8,519,845 (GRCm39) N178D possibly damaging Het
Zfp217 T C 2: 169,961,064 (GRCm39) D421G possibly damaging Het
Zfp382 T C 7: 29,833,855 (GRCm39) F502S probably damaging Het
Other mutations in Glipr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Glipr1 APN 10 111,821,555 (GRCm39) missense probably benign
IGL00553:Glipr1 APN 10 111,822,574 (GRCm39) missense possibly damaging 0.79
IGL02391:Glipr1 APN 10 111,824,799 (GRCm39) unclassified probably benign
R0115:Glipr1 UTSW 10 111,829,446 (GRCm39) missense probably benign 0.00
R0486:Glipr1 UTSW 10 111,832,754 (GRCm39) splice site probably benign
R1349:Glipr1 UTSW 10 111,829,437 (GRCm39) missense probably benign 0.02
R1822:Glipr1 UTSW 10 111,832,765 (GRCm39) missense possibly damaging 0.84
R4364:Glipr1 UTSW 10 111,821,542 (GRCm39) missense possibly damaging 0.84
R4905:Glipr1 UTSW 10 111,821,545 (GRCm39) missense probably damaging 1.00
R4974:Glipr1 UTSW 10 111,829,411 (GRCm39) nonsense probably null
R7603:Glipr1 UTSW 10 111,824,737 (GRCm39) missense probably benign 0.07
R8238:Glipr1 UTSW 10 111,829,345 (GRCm39) critical splice donor site probably null
R9489:Glipr1 UTSW 10 111,832,801 (GRCm39) missense probably damaging 1.00
R9605:Glipr1 UTSW 10 111,832,801 (GRCm39) missense probably damaging 1.00
Z1176:Glipr1 UTSW 10 111,824,742 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AAGAGAGATGTGTATCTGTTACGC -3'
(R):5'- TGGATGAGAAACTGCTACCTCC -3'

Sequencing Primer
(F):5'- TTACGCAGGTATATAGGCCAGTC -3'
(R):5'- GATGAGAAACTGCTACCTCCTTCATC -3'
Posted On 2017-01-03