Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Fkrp'

730598

Institutional Source

Beutler Lab

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

LGMD1I, MDC1C, A830029B19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16543192-16550657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16545112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 250 (T250N)

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 benign
Transcript: ENSMUST00000061390
AA Change: T250N

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: T250N

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

probably benign
Transcript: ENSMUST00000206259

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,465,247 (GRCm39)		probably benign	Het
Acvr1c	A	T	2: 58,206,007 (GRCm39)	D34E	probably benign	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 123,364,936 (GRCm39)	D282V	probably benign	Het
Ccl9	T	A	11: 83,466,238 (GRCm39)	N114I	probably benign	Het
Cdan1	G	T	2: 120,554,650 (GRCm39)	A875E	probably damaging	Het
Celf2	A	T	2: 6,726,349 (GRCm39)	F61L	probably damaging	Het
Chd9	T	C	8: 91,712,801 (GRCm39)	Y875H	unknown	Het
Ckap5	A	T	2: 91,379,177 (GRCm39)	K39M	probably benign	Het
Clcn3	T	C	8: 61,390,434 (GRCm39)	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,560,083 (GRCm39)	V1416F		Het
Cyp4v3	A	T	8: 45,773,703 (GRCm39)	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,379,466 (GRCm39)	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,450,544 (GRCm39)	Q719L	probably benign	Het
Evi2	C	T	11: 79,406,583 (GRCm39)	V331M	probably damaging	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Ftdc1	A	G	16: 58,434,974 (GRCm39)	L117S	probably benign	Het
Galc	G	A	12: 98,225,573 (GRCm39)	P6S		Het
Gm5134	A	T	10: 75,828,331 (GRCm39)	M304L	possibly damaging	Het
Haao	T	C	17: 84,142,215 (GRCm39)	E208G	probably damaging	Het
Hook1	T	A	4: 95,904,678 (GRCm39)	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,090,280 (GRCm39)		probably null	Het
Ighv10-3	C	T	12: 114,487,254 (GRCm39)	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,350,705 (GRCm39)	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,408,378 (GRCm39)	*249W	probably null	Het
Ktn1	T	G	14: 47,910,508 (GRCm39)	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,572,123 (GRCm39)	T710A	unknown	Het
Ldha	A	T	7: 46,504,456 (GRCm39)	Q326L	possibly damaging	Het
Map4	G	A	9: 109,901,774 (GRCm39)		probably null	Het
Mdfic	T	A	6: 15,770,514 (GRCm39)	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,271,692 (GRCm39)	Q159L	possibly damaging	Het
Omd	T	C	13: 49,743,336 (GRCm39)	S129P	probably damaging	Het
Or14j3	C	T	17: 37,900,914 (GRCm39)	G110D	probably benign	Het
Or52r1c	T	C	7: 102,735,196 (GRCm39)	V152A	probably benign	Het
Parp16	A	G	9: 65,141,009 (GRCm39)	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,763,174 (GRCm39)	T201A		Het
Phldb2	T	A	16: 45,601,756 (GRCm39)	H728L	possibly damaging	Het
Prrt1b	A	T	2: 29,637,548 (GRCm39)	L42Q	probably damaging	Het
Ptchd4	C	T	17: 42,813,641 (GRCm39)	T514I	probably damaging	Het
Pusl1	T	C	4: 155,976,094 (GRCm39)	D24G	probably benign	Het
Rai1	G	A	11: 60,080,165 (GRCm39)	A1410T	probably benign	Het
Rint1	T	A	5: 24,005,721 (GRCm39)	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,619,243 (GRCm39)	S156G	unknown	Het
Rtf1	A	G	2: 119,535,986 (GRCm39)	D180G	possibly damaging	Het
Sectm1a	G	T	11: 120,960,490 (GRCm39)	D108E	probably damaging	Het
Senp7	T	A	16: 55,944,277 (GRCm39)	D200E	probably damaging	Het
Sfswap	A	G	5: 129,616,848 (GRCm39)	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,073,472 (GRCm39)	D773E	probably damaging	Het
Shprh	T	C	10: 11,089,248 (GRCm39)	L1662P	probably damaging	Het
Slx4	G	T	16: 3,804,328 (GRCm39)	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,268,533 (GRCm39)	S43T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Strn4	G	A	7: 16,572,496 (GRCm39)	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,677,765 (GRCm39)	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,663,836 (GRCm39)	T341M	unknown	Het
Tjp2	A	C	19: 24,078,207 (GRCm39)	S895R	probably damaging	Het
Tmem220	G	T	11: 66,916,086 (GRCm39)	A28S	probably damaging	Het
Trdv1	G	A	14: 54,119,663 (GRCm39)	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,190 (GRCm39)	Y423C	probably damaging	Het
Ttn	T	C	2: 76,625,027 (GRCm39)	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,802 (GRCm39)	Y355F	probably benign	Het
Vnn3	C	T	10: 23,745,454 (GRCm39)	R468*	probably null	Het
Washc5	T	A	15: 59,217,192 (GRCm39)	T792S	probably benign	Het
Wdfy4	T	C	14: 32,847,893 (GRCm39)	M820V		Het
Zfp961	T	A	8: 72,721,933 (GRCm39)	C149S	possibly damaging	Het
Zmat4	G	A	8: 24,238,507 (GRCm39)	V30M	probably damaging	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
R2519:Fkrp	UTSW	7	16,544,877 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- CAGATCTACGTCGTAGTCCCAAG -3'
(R):5'- TAGCTCTGAACGTCAGCCTG -3'

Sequencing Primer
(F):5'- TCCCAAGGGATGATGTCGC -3'
(R):5'- CGCTGCGACGCTTTGGATG -3'

Posted On

2022-10-06