Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Grn'

390658

Institutional Source

Beutler Lab

Gene Symbol

Grn

Ensembl Gene

ENSMUSG00000034708

Gene Name

granulin

Synonyms

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

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R5013 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

102321333-102327635 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 102321380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]

AlphaFold

P28798

Predicted Effect

probably benign
Transcript: ENSMUST00000049460

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

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

SMART Domains

Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

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: ENSMUST00000176953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148580

Predicted Effect

probably benign
Transcript: ENSMUST00000177428

SMART Domains

Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,926 (GRCm39)	L2117P	probably damaging	Het
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Rnasel	C	A	1: 153,629,677 (GRCm39)	H64Q	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	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
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
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

Posted On

2016-06-06