Incidental Mutation 'PIT4434001:Grn'
| ID |
555074 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4434001 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102321333-102327635 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102326766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 482
(H482Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049460
AA Change: H482Y
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
AA Change: H482Y
| 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 |
probably damaging
Transcript: ENSMUST00000125819
AA Change: H127Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708
AA Change: H127Y
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708
AA Change: H103Y
| 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 |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
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 |
|
|
IGL02456:Grn
|
APN |
11 |
102,326,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTGCTCAGACAACCAG -3'
(R):5'- AAAATCGACATCCTTCTCACAGGTC -3'
Sequencing Primer
(F):5'- CTTCACATGTCTGGCTCAGGG -3'
(R):5'- ACAGGTCCTCGCCTTCACATTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation