Incidental Mutation 'R1753:Grn'
ID 193771
Institutional Source Beutler Lab
Gene Symbol Grn
Ensembl Gene ENSMUSG00000034708
Gene Name granulin
Synonyms progranulin, epithelin, acrogranulin, PC cell-derived growth factor, Pgrn
MMRRC Submission 039785-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R1753 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102430315-102437048 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102433267 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 61 (C61G)
Ref Sequence ENSEMBL: ENSMUSP00000135739 (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

signal peptide 1 26 N/A INTRINSIC
Pfam:UPF0560 41 820 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000049460
AA Change: C74G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
AA Change: C74G

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
SMART Domains Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

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 damaging
Transcript: ENSMUST00000129997
AA Change: C61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708
AA Change: C61G

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: ENSMUST00000148580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
Predicted Effect probably benign
Transcript: ENSMUST00000177428
SMART Domains Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,973,716 (GRCm38) F409I probably benign Het
Adamts19 A C 18: 59,007,372 (GRCm38) I848L possibly damaging Het
Adamts5 T C 16: 85,899,352 (GRCm38) S306G probably damaging Het
Adamts8 T G 9: 30,954,614 (GRCm38) I486S probably benign Het
Adgrg5 T C 8: 94,942,052 (GRCm38) F499L possibly damaging Het
Akr1c21 T A 13: 4,577,135 (GRCm38) C145* probably null Het
Anp32b T G 4: 46,460,241 (GRCm38) probably null Het
Arhgap31 A G 16: 38,601,612 (GRCm38) V1364A possibly damaging Het
C2cd6 T C 1: 59,094,833 (GRCm38) R10G possibly damaging Het
Cacna2d1 A G 5: 16,302,354 (GRCm38) E367G possibly damaging Het
Ccdc81 C T 7: 89,866,561 (GRCm38) E637K probably benign Het
Cd2 A T 3: 101,287,499 (GRCm38) M91K possibly damaging Het
Cdc16 C A 8: 13,764,688 (GRCm38) Y157* probably null Het
Celsr3 G T 9: 108,831,857 (GRCm38) V1301F probably damaging Het
Cep164 C T 9: 45,792,937 (GRCm38) G961S probably damaging Het
Cep290 T C 10: 100,513,981 (GRCm38) V630A probably benign Het
Chd5 C T 4: 152,378,815 (GRCm38) S1451F probably damaging Het
Cldn23 A C 8: 35,825,986 (GRCm38) L116R possibly damaging Het
Cngb1 A T 8: 95,297,773 (GRCm38) probably benign Het
Cpb1 G T 3: 20,266,241 (GRCm38) N151K possibly damaging Het
Cpn2 A G 16: 30,260,100 (GRCm38) F261S probably damaging Het
Crlf3 A C 11: 80,057,872 (GRCm38) V249G probably damaging Het
Csmd1 A T 8: 16,157,120 (GRCm38) Y1298* probably null Het
Cstf2t C A 19: 31,083,685 (GRCm38) P207Q possibly damaging Het
Cym A C 3: 107,213,425 (GRCm38) L288R possibly damaging Het
Cyp2j12 C T 4: 96,121,432 (GRCm38) probably null Het
Dlx6 C T 6: 6,863,665 (GRCm38) Q96* probably null Het
Dnah7b T C 1: 46,322,335 (GRCm38) F3465S probably damaging Het
Dnmt3a A T 12: 3,873,342 (GRCm38) M181L possibly damaging Het
Duox1 T A 2: 122,333,429 (GRCm38) M859K probably damaging Het
Eif2b4 A T 5: 31,192,940 (GRCm38) S13T probably benign Het
Ercc6 T C 14: 32,576,999 (GRCm38) V1448A probably benign Het
Esp24 A G 17: 39,040,002 (GRCm38) E31G possibly damaging Het
F2rl2 T A 13: 95,701,461 (GRCm38) M338K probably benign Het
Fgfbp1 A C 5: 43,979,923 (GRCm38) L9R possibly damaging Het
Gal3st2b A T 1: 93,940,616 (GRCm38) N188Y probably damaging Het
Gpr179 G C 11: 97,346,578 (GRCm38) C372W probably damaging Het
Herc1 T C 9: 66,502,084 (GRCm38) probably null Het
Herc1 T G 9: 66,469,010 (GRCm38) C3371G probably damaging Het
Hmcn1 C T 1: 150,586,468 (GRCm38) G5153D possibly damaging Het
Ifi35 A T 11: 101,456,635 (GRCm38) R31W probably damaging Het
Ifit1bl1 T A 19: 34,593,860 (GRCm38) H399L probably benign Het
Irx3 G A 8: 91,800,734 (GRCm38) P114L probably damaging Het
Kat6a T A 8: 22,935,797 (GRCm38) D1119E probably benign Het
Kmt2d G T 15: 98,843,482 (GRCm38) probably benign Het
Kng1 A T 16: 23,079,119 (GRCm38) H423L possibly damaging Het
Lrp2 T A 2: 69,496,489 (GRCm38) Q1746L possibly damaging Het
Lrrc29 A T 8: 105,313,192 (GRCm38) V517E probably damaging Het
Lrrc63 A T 14: 75,086,344 (GRCm38) probably null Het
Mad2l1 T A 6: 66,539,813 (GRCm38) V163E possibly damaging Het
Map3k19 A G 1: 127,822,680 (GRCm38) M978T probably benign Het
Mon1a A C 9: 107,901,363 (GRCm38) N262T probably damaging Het
Mpo A G 11: 87,795,881 (GRCm38) N85D probably benign Het
Mpp4 T C 1: 59,144,810 (GRCm38) D244G probably null Het
Mstn A G 1: 53,066,558 (GRCm38) Y353C probably damaging Het
Mx1 T A 16: 97,454,158 (GRCm38) N232Y probably damaging Het
Mycs T C X: 5,468,103 (GRCm38) R308G probably benign Het
Myh11 A T 16: 14,277,870 (GRCm38) D9E probably benign Het
Nfe2l3 A T 6: 51,433,412 (GRCm38) Q169L probably null Het
Nr5a1 G T 2: 38,708,419 (GRCm38) T122N possibly damaging Het
Nras A G 3: 103,058,979 (GRCm38) T20A probably damaging Het
Obp2b T A 2: 25,738,640 (GRCm38) probably null Het
Olfr1109 T C 2: 87,093,227 (GRCm38) T57A probably damaging Het
Olfr1143 T A 2: 87,802,762 (GRCm38) F124L probably benign Het
Olfr1410 G A 1: 92,608,400 (GRCm38) V188M probably benign Het
Olfr365 A G 2: 37,201,427 (GRCm38) Y62C probably damaging Het
Olfr577 T C 7: 102,973,056 (GRCm38) N312S probably benign Het
Pcdh17 A T 14: 84,477,654 (GRCm38) T920S probably benign Het
Pcdh9 T C 14: 93,887,225 (GRCm38) D503G probably benign Het
Pcdhb12 C T 18: 37,436,671 (GRCm38) T290I probably damaging Het
Pde6b C A 5: 108,388,691 (GRCm38) C84* probably null Het
Pex1 A T 5: 3,630,044 (GRCm38) N914I probably damaging Het
Pign A G 1: 105,589,317 (GRCm38) V528A possibly damaging Het
Pkhd1 T G 1: 20,533,905 (GRCm38) D1187A possibly damaging Het
Ppip5k1 T C 2: 121,342,631 (GRCm38) K489E probably damaging Het
Prob1 T C 18: 35,653,252 (GRCm38) T650A possibly damaging Het
Radil T C 5: 142,495,336 (GRCm38) Y572C probably damaging Het
Rapgef2 A G 3: 79,088,791 (GRCm38) I555T possibly damaging Het
Rgs5 G A 1: 169,682,817 (GRCm38) probably null Het
Rnaset2b G A 17: 6,981,107 (GRCm38) probably null Het
S1pr1 A G 3: 115,711,938 (GRCm38) S336P probably benign Het
Slc24a5 A G 2: 125,083,195 (GRCm38) E252G possibly damaging Het
Slc34a2 A T 5: 53,061,391 (GRCm38) I184F probably benign Het
Slc35a3 A G 3: 116,677,948 (GRCm38) V224A possibly damaging Het
Slc39a9 A G 12: 80,677,202 (GRCm38) H211R probably damaging Het
Slu7 A G 11: 43,439,268 (GRCm38) N174S probably benign Het
Smarcd3 A T 5: 24,595,822 (GRCm38) Y131* probably null Het
Syne1 A G 10: 5,367,621 (GRCm38) M491T probably benign Het
Tars G A 15: 11,394,243 (GRCm38) Q103* probably null Het
Tmem132d C A 5: 127,789,855 (GRCm38) E660D probably benign Het
Ttn T C 2: 76,812,972 (GRCm38) E13201G probably damaging Het
Ttn T A 2: 76,752,261 (GRCm38) M22763L probably benign Het
Ttn T C 2: 76,745,043 (GRCm38) T16842A probably damaging Het
Ubp1 A T 9: 113,955,969 (GRCm38) I117L possibly damaging Het
Usp24 T A 4: 106,377,559 (GRCm38) H954Q probably benign Het
Vmn1r174 G A 7: 23,754,197 (GRCm38) R96H probably benign Het
Vmn2r63 G A 7: 42,928,245 (GRCm38) Q290* probably null Het
Vnn3 T C 10: 23,865,820 (GRCm38) I341T probably benign Het
Wbp2nl A G 15: 82,305,744 (GRCm38) T46A probably damaging Het
Wdr48 G T 9: 119,924,247 (GRCm38) E625* probably null Het
Wdr6 C T 9: 108,575,164 (GRCm38) V507I probably damaging Het
Zp2 A T 7: 120,138,105 (GRCm38) W287R probably benign Het
Other mutations in Grn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Grn APN 11 102,436,258 (GRCm38) splice site probably benign
IGL02456:Grn APN 11 102,436,104 (GRCm38) missense probably benign 0.01
PIT4434001:Grn UTSW 11 102,435,940 (GRCm38) missense possibly damaging 0.88
R0395:Grn UTSW 11 102,436,223 (GRCm38) missense probably benign 0.03
R0784:Grn UTSW 11 102,434,502 (GRCm38) missense possibly damaging 0.74
R1037:Grn UTSW 11 102,433,070 (GRCm38) missense possibly damaging 0.94
R1905:Grn UTSW 11 102,436,450 (GRCm38) missense probably damaging 1.00
R3110:Grn UTSW 11 102,433,243 (GRCm38) missense probably benign 0.07
R3111:Grn UTSW 11 102,433,243 (GRCm38) missense probably benign 0.07
R3112:Grn UTSW 11 102,433,243 (GRCm38) missense probably benign 0.07
R3974:Grn UTSW 11 102,436,339 (GRCm38) missense probably damaging 1.00
R4908:Grn UTSW 11 102,436,518 (GRCm38) unclassified probably benign
R4989:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5012:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5013:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5108:Grn UTSW 11 102,434,402 (GRCm38) missense probably benign 0.10
R5133:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5134:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5162:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5182:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5183:Grn UTSW 11 102,430,554 (GRCm38) unclassified probably benign
R5308:Grn UTSW 11 102,436,192 (GRCm38) missense possibly damaging 0.96
R5350:Grn UTSW 11 102,436,244 (GRCm38) missense possibly damaging 0.50
R5786:Grn UTSW 11 102,434,043 (GRCm38) nonsense probably null
R6383:Grn UTSW 11 102,436,795 (GRCm38) unclassified probably benign
R7679:Grn UTSW 11 102,433,069 (GRCm38) missense probably benign 0.01
R7741:Grn UTSW 11 102,435,734 (GRCm38) missense probably damaging 1.00
R8312:Grn UTSW 11 102,436,247 (GRCm38) missense probably damaging 0.98
R8677:Grn UTSW 11 102,433,567 (GRCm38) missense possibly damaging 0.94
R8682:Grn UTSW 11 102,434,820 (GRCm38) missense probably benign 0.04
R8864:Grn UTSW 11 102,436,385 (GRCm38) missense unknown
R9001:Grn UTSW 11 102,436,671 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23