Incidental Mutation 'IGL02456:Grn'
ID294172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grn
Ensembl Gene ENSMUSG00000034708
Gene Namegranulin
Synonymsprogranulin, epithelin, acrogranulin, PC cell-derived growth factor, Pgrn
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #IGL02456
Quality Score
Status
Chromosome11
Chromosomal Location102430315-102437048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102436104 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000135517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
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
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
0610009O20Rik T A 18: 38,261,124 L458Q probably damaging Het
4921511C20Rik T A X: 127,394,961 Y174* probably null Het
Apc C A 18: 34,313,882 S1243* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Cbx4 T A 11: 119,082,112 K146* probably null Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D46G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Nup85 T C 11: 115,581,865 probably benign Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr630 T A 7: 103,755,493 I31F possibly damaging Het
Olfr683 T C 7: 105,143,759 N178S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L76H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging Het
Other mutations in Grn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Grn APN 11 102436258 splice site probably benign
PIT4434001:Grn UTSW 11 102435940 missense possibly damaging 0.88
R0395:Grn UTSW 11 102436223 missense probably benign 0.03
R0784:Grn UTSW 11 102434502 missense possibly damaging 0.74
R1037:Grn UTSW 11 102433070 missense possibly damaging 0.94
R1753:Grn UTSW 11 102433267 missense probably damaging 1.00
R1905:Grn UTSW 11 102436450 missense probably damaging 1.00
R3110:Grn UTSW 11 102433243 missense probably benign 0.07
R3111:Grn UTSW 11 102433243 missense probably benign 0.07
R3112:Grn UTSW 11 102433243 missense probably benign 0.07
R3974:Grn UTSW 11 102436339 missense probably damaging 1.00
R4908:Grn UTSW 11 102436518 unclassified probably benign
R4989:Grn UTSW 11 102430554 unclassified probably benign
R5012:Grn UTSW 11 102430554 unclassified probably benign
R5013:Grn UTSW 11 102430554 unclassified probably benign
R5108:Grn UTSW 11 102434402 missense probably benign 0.10
R5133:Grn UTSW 11 102430554 unclassified probably benign
R5134:Grn UTSW 11 102430554 unclassified probably benign
R5162:Grn UTSW 11 102430554 unclassified probably benign
R5182:Grn UTSW 11 102430554 unclassified probably benign
R5183:Grn UTSW 11 102430554 unclassified probably benign
R5308:Grn UTSW 11 102436192 missense possibly damaging 0.96
R5350:Grn UTSW 11 102436244 missense possibly damaging 0.50
R5786:Grn UTSW 11 102434043 nonsense probably null
R6383:Grn UTSW 11 102436795 unclassified probably benign
R7679:Grn UTSW 11 102433069 missense probably benign 0.01
R7741:Grn UTSW 11 102435734 missense probably damaging 1.00
R8312:Grn UTSW 11 102436247 missense probably damaging 0.98
Posted On2015-04-16