Incidental Mutation 'R3112:Grn'
ID 263749
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 040585-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102430315-102437048 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102433243 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 53 (T53A)
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 probably benign
Transcript: ENSMUST00000049460
AA Change: T66A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
AA Change: T66A

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 benign
Transcript: ENSMUST00000129997
AA Change: T53A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708
AA Change: T53A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T G 2: 111,228,054 (GRCm38) L131F probably damaging Het
Abca6 T A 11: 110,178,829 (GRCm38) K1554* probably null Het
Acads T C 5: 115,117,698 (GRCm38) H26R probably benign Het
Acer1 G A 17: 56,958,406 (GRCm38) T141I probably damaging Het
Adam15 C G 3: 89,347,457 (GRCm38) V99L probably benign Het
Ankrd13b A G 11: 77,477,505 (GRCm38) V97A possibly damaging Het
Anpep T C 7: 79,841,972 (GRCm38) T94A probably benign Het
Atp1a3 T C 7: 24,994,694 (GRCm38) N345S probably damaging Het
Btn1a1 T A 13: 23,461,551 (GRCm38) N216I possibly damaging Het
Cacna1s G A 1: 136,075,093 (GRCm38) W62* probably null Het
Ccdc141 C T 2: 77,039,486 (GRCm38) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm38) I278K possibly damaging Het
Cdc7 T G 5: 106,974,698 (GRCm38) probably null Het
Cpb1 C T 3: 20,265,357 (GRCm38) V188M probably damaging Het
Dock5 A G 14: 67,857,922 (GRCm38) I101T possibly damaging Het
Dqx1 T C 6: 83,058,972 (GRCm38) V95A probably damaging Het
Dvl1 T A 4: 155,853,666 (GRCm38) D90E probably damaging Het
Fam135b T C 15: 71,464,030 (GRCm38) I438M probably benign Het
Fam57a A G 11: 76,202,231 (GRCm38) D33G probably benign Het
Fpr1 A T 17: 17,876,635 (GRCm38) M364K probably benign Het
Gm14139 C G 2: 150,192,221 (GRCm38) P185R probably damaging Het
Gm7030 T C 17: 36,129,146 (GRCm38) Y32C probably damaging Het
Gpat4 G A 8: 23,180,155 (GRCm38) P286L probably damaging Het
Gpx7 C A 4: 108,403,273 (GRCm38) V109F probably damaging Het
Grhl2 T C 15: 37,336,347 (GRCm38) probably null Het
Hist1h1e T C 13: 23,621,846 (GRCm38) probably benign Het
Hmgxb3 T C 18: 61,147,382 (GRCm38) N683S probably damaging Het
Iigp1 T C 18: 60,390,911 (GRCm38) I367T probably benign Het
Itfg2 T C 6: 128,411,669 (GRCm38) E285G probably damaging Het
Itgav T A 2: 83,792,571 (GRCm38) C662* probably null Het
Jarid2 T A 13: 44,906,276 (GRCm38) N661K probably damaging Het
Lipe T C 7: 25,398,423 (GRCm38) T32A probably benign Het
Lrrk2 A G 15: 91,814,695 (GRCm38) Y2475C probably benign Het
Mcc T C 18: 44,449,263 (GRCm38) D607G probably damaging Het
Mip T A 10: 128,226,006 (GRCm38) L42* probably null Het
Mlc1 A T 15: 88,965,996 (GRCm38) D192E probably benign Het
Muc2 T C 7: 141,745,488 (GRCm38) probably benign Het
Mybl1 T C 1: 9,681,870 (GRCm38) D260G probably damaging Het
Ncln C T 10: 81,487,685 (GRCm38) V51I probably benign Het
Nlrp9a T C 7: 26,557,872 (GRCm38) V305A probably benign Het
Nodal G A 10: 61,424,497 (GRCm38) R309Q possibly damaging Het
Olfr1338 A T 4: 118,754,224 (GRCm38) F105I probably damaging Het
Olfr294 T C 7: 86,615,676 (GRCm38) Y323C probably benign Het
Olfr536 A G 7: 140,503,919 (GRCm38) I180T probably damaging Het
Olr1 T C 6: 129,499,918 (GRCm38) N128S possibly damaging Het
Orc1 T A 4: 108,604,560 (GRCm38) C585S probably benign Het
Pcmtd2 A T 2: 181,855,129 (GRCm38) I300F probably damaging Het
Pfkfb4 C T 9: 109,025,042 (GRCm38) probably benign Het
Phactr3 T A 2: 178,279,017 (GRCm38) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm38) T612A probably benign Het
Plch1 T A 3: 63,709,531 (GRCm38) D766V probably damaging Het
Plekhh3 T C 11: 101,164,147 (GRCm38) probably benign Het
Ppp1r12b T A 1: 134,872,832 (GRCm38) T547S probably damaging Het
Prkcb T A 7: 122,516,856 (GRCm38) M186K probably damaging Het
Prpf3 A T 3: 95,849,800 (GRCm38) probably benign Het
Psg23 T C 7: 18,610,444 (GRCm38) D362G possibly damaging Het
Reg3a T C 6: 78,381,131 (GRCm38) L15P probably damaging Het
Scrib A T 15: 76,069,374 (GRCm38) I5N probably damaging Het
Speg C T 1: 75,422,682 (GRCm38) Q2005* probably null Het
Sppl3 A T 5: 115,074,864 (GRCm38) S51C possibly damaging Het
Sspo A G 6: 48,457,600 (GRCm38) T1009A probably damaging Het
Syce1l A G 8: 113,654,947 (GRCm38) Q164R probably benign Het
Sympk T C 7: 19,034,484 (GRCm38) V126A possibly damaging Het
Tas2r110 T A 6: 132,868,024 (GRCm38) I6K unknown Het
Tas2r120 A T 6: 132,657,768 (GRCm38) H271L probably damaging Het
Tnn T A 1: 160,116,286 (GRCm38) T986S possibly damaging Het
Trim5 T C 7: 104,279,638 (GRCm38) H32R probably damaging Het
Ttc13 A G 8: 124,683,834 (GRCm38) I360T possibly damaging Het
Uaca A G 9: 60,871,499 (GRCm38) E1054G probably damaging Het
Usp16 T A 16: 87,471,848 (GRCm38) probably null Het
Wee1 T A 7: 110,130,836 (GRCm38) S382R probably damaging Het
Wnt11 T C 7: 98,846,564 (GRCm38) S92P probably damaging Het
Zfp786 A G 6: 47,820,226 (GRCm38) C593R probably damaging Het
Zfp879 T G 11: 50,833,162 (GRCm38) I283L possibly damaging 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
R1753:Grn UTSW 11 102,433,267 (GRCm38) missense probably damaging 1.00
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
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 2015-02-05