Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Grn'

294172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grn

Ensembl Gene

ENSMUSG00000034708

Gene Name

granulin

Synonyms

progranulin, epithelin, acrogranulin, PC cell-derived growth factor, Pgrn

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

102430315-102437048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102436104 bp

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]

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

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

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

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
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8677:Grn	UTSW	11	102433567	missense	possibly damaging	0.94
R8682:Grn	UTSW	11	102434820	missense	probably benign	0.04

Posted On

2015-04-16