Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Grn'

661829

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

068537-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

R8682 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

102321333-102327635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102325646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 288 (Y288H)

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: Y288H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708
AA Change: Y288H

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 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

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

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,314,725 (GRCm39)	L141Q	probably null	Het
Abtb2	A	T	2: 103,397,720 (GRCm39)	T217S	probably benign	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,769,005 (GRCm39)	M172V	probably benign	Het
Apaf1	A	T	10: 90,831,532 (GRCm39)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,234,970 (GRCm39)	S479P	probably benign	Het
Asah2	C	T	19: 32,030,277 (GRCm39)	V132M	probably damaging	Het
Bmp10	A	G	6: 87,410,541 (GRCm39)		probably null	Het
Bsn	T	C	9: 107,983,368 (GRCm39)	Y790C		Het
Cacna2d1	C	A	5: 16,558,837 (GRCm39)	R732S	possibly damaging	Het
Casr	A	T	16: 36,315,784 (GRCm39)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 88,198,735 (GRCm39)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,459,438 (GRCm39)	M61K	possibly damaging	Het
Cdh11	T	C	8: 103,377,348 (GRCm39)	I433V	probably benign	Het
Cdhr5	A	G	7: 140,855,899 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,568,358 (GRCm39)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,337,917 (GRCm39)	D103G	probably damaging	Het
Dync2i1	A	T	12: 116,188,610 (GRCm39)	H661Q	probably damaging	Het
Eif4a3l1	A	G	6: 136,306,027 (GRCm39)	T163A	possibly damaging	Het
Fem1b	A	T	9: 62,704,432 (GRCm39)	L276*	probably null	Het
Fggy	T	A	4: 95,700,358 (GRCm39)	V343E	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Grtp1	G	A	8: 13,229,499 (GRCm39)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,502,734 (GRCm39)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,370,130 (GRCm39)	D469G		Het
Hsf2	G	A	10: 57,381,267 (GRCm39)	E286K	possibly damaging	Het
Hydin	A	G	8: 111,035,798 (GRCm39)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,793,976 (GRCm39)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,642,673 (GRCm39)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,153,680 (GRCm39)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,649,269 (GRCm39)	V890G	probably benign	Het
Mslnl	A	G	17: 25,965,962 (GRCm39)	D612G	probably benign	Het
Myl2	T	A	5: 122,244,798 (GRCm39)	V156D	probably damaging	Het
Neb	C	A	2: 52,136,857 (GRCm39)	W3208L	probably damaging	Het
Neto2	T	C	8: 86,367,295 (GRCm39)	Y511C	probably benign	Het
Obi1	G	T	14: 104,717,669 (GRCm39)	R235S	probably damaging	Het
Obox2	C	A	7: 15,130,912 (GRCm39)	T48K	possibly damaging	Het
Or14a259	C	T	7: 86,013,373 (GRCm39)	M57I	probably damaging	Het
Or51f2	T	A	7: 102,526,646 (GRCm39)	F106L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,407,425 (GRCm39)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,489,144 (GRCm39)	K264E	probably benign	Het
Phf11	G	A	14: 59,496,033 (GRCm39)	T27I	probably benign	Het
Pla2r1	T	A	2: 60,253,120 (GRCm39)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,897,523 (GRCm39)	Y495F		Het
Ppp2r5d	T	C	17: 46,997,989 (GRCm39)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,306,053 (GRCm39)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,742,849 (GRCm39)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,545,432 (GRCm39)	S100P	probably benign	Het
Shh	T	A	5: 28,663,058 (GRCm39)	H370L	probably benign	Het
Siah3	A	T	14: 75,763,043 (GRCm39)	H98L	possibly damaging	Het
Sim2	C	T	16: 93,924,192 (GRCm39)	H446Y	probably benign	Het
Skint4	T	C	4: 111,993,237 (GRCm39)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,367,398 (GRCm39)	N221K	probably damaging	Het
Sox6	T	C	7: 115,076,191 (GRCm39)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,256,997 (GRCm39)	T251A	probably benign	Het
Stard9	T	C	2: 120,533,796 (GRCm39)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,046,195 (GRCm39)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,688,011 (GRCm39)	K641*	probably null	Het
Tmc5	G	T	7: 118,269,925 (GRCm39)	V892F	possibly damaging	Het
Tpsab1	T	A	17: 25,562,685 (GRCm39)	H238L	probably benign	Het
Trank1	A	G	9: 111,194,412 (GRCm39)	N812S	probably benign	Het
Trio	T	A	15: 27,905,278 (GRCm39)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,524,693 (GRCm39)	T451A	probably benign	Het
Ube3b	T	C	5: 114,550,351 (GRCm39)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,441,938 (GRCm39)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,932,344 (GRCm39)	F84L	possibly damaging	Het
Wdr95	C	T	5: 149,518,752 (GRCm39)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,284,118 (GRCm39)	G191V	probably benign	Het
Zfp111	G	A	7: 23,897,983 (GRCm39)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,576,539 (GRCm39)	S181G	probably benign	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
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
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'- TAGTGTACGCTATCAGCCTGGC -3'
(R):5'- ATCATCAAAGGCAGTGGGAC -3'

Sequencing Primer
(F):5'- ATCAGCCTGGCTCGCTC -3'
(R):5'- TGCGGAGAACGGAGCACAC -3'

Posted On

2021-03-08