Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Fkrp'

675660

Institutional Source

Beutler Lab

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

LGMD1I, MDC1C, A830029B19Rik

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16543192-16550657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16544749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 371 (D371V)

Ref Sequence

ENSEMBL: ENSMUSP00000059091 (fasta)

Gene Model

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

AlphaFold

Q8CG64

Predicted Effect

probably damaging
Transcript: ENSMUST00000061390
AA Change: D371V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: D371V

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Aox3	T	A	1: 58,189,460 (GRCm39)	I387K	probably benign	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
Gnmt	G	A	17: 47,037,618 (GRCm39)	T120M	probably damaging	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pfn4	T	A	12: 4,825,456 (GRCm39)	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,704,580 (GRCm39)	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Sp3	A	T	2: 72,801,630 (GRCm39)	Y172N	probably damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	possibly 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
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'- CTTGGTCATAACCCCATTGCGG -3'
(R):5'- TTTGGCTGCAGCAAGGAGAG -3'

Sequencing Primer
(F):5'- CCATTGCGGGGGTAAAAGG -3'
(R):5'- ACCCGCCTACCTGTATGAG -3'

Posted On

2021-07-15