Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Fkrp'

254199

Institutional Source

Beutler Lab

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

LGMD1I, MDC1C, A830029B19Rik

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16543192-16550657 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 16544877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 328 (Y328*)

Ref Sequence

ENSEMBL: ENSMUSP00000059091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000061390] [ENSMUST00000206259]

AlphaFold

Q8CG64

Predicted Effect

probably benign
Transcript: ENSMUST00000019220

SMART Domains

Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	21	60	N/A	INTRINSIC
Pfam:Striatin	64	193	1.2e-44	PFAM
low complexity region	217	236	N/A	INTRINSIC
low complexity region	272	284	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC
low complexity region	367	382	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
WD40	434	473	5.72e-9	SMART
WD40	487	526	6.53e-4	SMART
WD40	540	579	6.99e-13	SMART
WD40	584	626	2.38e1	SMART
WD40	629	672	3.55e1	SMART
WD40	675	714	5.34e-9	SMART
WD40	717	760	1.58e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000061390
AA Change: Y328*

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: Y328*

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC
Pfam:LicD	334	374	1.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205677

Predicted Effect

probably benign
Transcript: ENSMUST00000206259

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology. [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
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	Het

Other mutations in Fkrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Fkrp	APN	7	16,545,415 (GRCm39)	missense	probably benign	0.02
R1177:Fkrp	UTSW	7	16,544,452 (GRCm39)	missense	probably damaging	1.00
R1722:Fkrp	UTSW	7	16,544,719 (GRCm39)	missense	probably benign	0.20
R1984:Fkrp	UTSW	7	16,545,802 (GRCm39)	missense	probably benign	0.11
R5227:Fkrp	UTSW	7	16,544,635 (GRCm39)	missense	possibly damaging	0.95
R5566:Fkrp	UTSW	7	16,544,849 (GRCm39)	missense	probably damaging	1.00
R6513:Fkrp	UTSW	7	16,545,037 (GRCm39)	missense	possibly damaging	0.90
R6939:Fkrp	UTSW	7	16,545,751 (GRCm39)	missense	probably benign	0.00
R8861:Fkrp	UTSW	7	16,544,749 (GRCm39)	missense	probably damaging	1.00
R9054:Fkrp	UTSW	7	16,544,569 (GRCm39)	missense	probably damaging	1.00
R9718:Fkrp	UTSW	7	16,545,112 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CTGTACTCGGAAGAAGTCGC -3'
(R):5'- AGCTGCTGGACTTGACCTTC -3'

Sequencing Primer
(F):5'- GCGTTCATCCACTACCGAG -3'
(R):5'- TGGACTTGACCTTCGCCGC -3'

Posted On

2014-12-04