Incidental Mutation 'IGL02456:Grn'
ID 294172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grn
Ensembl Gene ENSMUSG00000034708
Gene Name granulin
Synonyms epithelin, progranulin, Pgrn, PC cell-derived growth factor, acrogranulin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # IGL02456
Quality Score
Status
Chromosome 11
Chromosomal Location 102321333-102327635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102326930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 509 (D509E)
Ref Sequence ENSEMBL: ENSMUSP00000046340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]
AlphaFold P28798
Predicted Effect probably benign
Transcript: ENSMUST00000049057
SMART Domains Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPF0560 41 820 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049460
AA Change: D509E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
AA Change: D509E

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
GRAN 74 125 1.32e-22 SMART
GRAN 138 190 7.38e-26 SMART
GRAN 220 272 5.76e-28 SMART
GRAN 295 346 1.19e-29 SMART
GRAN 377 427 1.84e-26 SMART
GRAN 455 506 7.1e-28 SMART
GRAN 530 581 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123500
Predicted Effect probably benign
Transcript: ENSMUST00000125819
AA Change: D154E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708
AA Change: D154E

DomainStartEndE-ValueType
GRAN 42 72 5.03e-4 SMART
GRAN 100 151 7.1e-28 SMART
GRAN 175 226 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127530
Predicted Effect probably benign
Transcript: ENSMUST00000129997
SMART Domains Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GRAN 61 112 1.32e-22 SMART
GRAN 125 177 7.38e-26 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177428
AA Change: D130E
SMART Domains Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708
AA Change: D130E

DomainStartEndE-ValueType
GRAN 1 49 8.68e-23 SMART
GRAN 77 128 7.1e-28 SMART
GRAN 152 180 3.98e-2 SMART
low complexity region 244 259 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135517
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some knock-out alleles display enhanced macrophage functions. Mice homozygous for another knock-out allele display reproductive and behavioral abnormalities. Mice homozygous for a third null allele display premature death and increased cellular aging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E possibly damaging Het
Other mutations in Grn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Grn APN 11 102,327,084 (GRCm39) splice site probably benign
PIT4434001:Grn UTSW 11 102,326,766 (GRCm39) missense possibly damaging 0.88
R0395:Grn UTSW 11 102,327,049 (GRCm39) missense probably benign 0.03
R0784:Grn UTSW 11 102,325,328 (GRCm39) missense possibly damaging 0.74
R1037:Grn UTSW 11 102,323,896 (GRCm39) missense possibly damaging 0.94
R1753:Grn UTSW 11 102,324,093 (GRCm39) missense probably damaging 1.00
R1905:Grn UTSW 11 102,327,276 (GRCm39) missense probably damaging 1.00
R3110:Grn UTSW 11 102,324,069 (GRCm39) missense probably benign 0.07
R3111:Grn UTSW 11 102,324,069 (GRCm39) missense probably benign 0.07
R3112:Grn UTSW 11 102,324,069 (GRCm39) missense probably benign 0.07
R3974:Grn UTSW 11 102,327,165 (GRCm39) missense probably damaging 1.00
R4908:Grn UTSW 11 102,327,344 (GRCm39) unclassified probably benign
R4989:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5012:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5013:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5108:Grn UTSW 11 102,325,228 (GRCm39) missense probably benign 0.10
R5133:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5134:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5162:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5182:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5183:Grn UTSW 11 102,321,380 (GRCm39) unclassified probably benign
R5308:Grn UTSW 11 102,327,018 (GRCm39) missense possibly damaging 0.96
R5350:Grn UTSW 11 102,327,070 (GRCm39) missense possibly damaging 0.50
R5786:Grn UTSW 11 102,324,869 (GRCm39) nonsense probably null
R6383:Grn UTSW 11 102,327,621 (GRCm39) unclassified probably benign
R7679:Grn UTSW 11 102,323,895 (GRCm39) missense probably benign 0.01
R7741:Grn UTSW 11 102,326,560 (GRCm39) missense probably damaging 1.00
R8312:Grn UTSW 11 102,327,073 (GRCm39) missense probably damaging 0.98
R8677:Grn UTSW 11 102,324,393 (GRCm39) missense possibly damaging 0.94
R8682:Grn UTSW 11 102,325,646 (GRCm39) missense probably benign 0.04
R8864:Grn UTSW 11 102,327,211 (GRCm39) missense unknown
R9001:Grn UTSW 11 102,327,497 (GRCm39) missense
Posted On 2015-04-16