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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |