Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Fkrp'

540428

Institutional Source

Beutler Lab

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

LGMD1I, MDC1C, A830029B19Rik

MMRRC Submission

045053-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16543192-16550657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16545751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 37 (R37Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000061390] [ENSMUST00000108495] [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: R37Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: R37Q

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: ENSMUST00000108495

SMART Domains

Protein: ENSMUSP00000104135
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	197	1.4e-45	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	409	422	N/A	INTRINSIC
WD40	427	466	5.72e-9	SMART
WD40	480	519	6.53e-4	SMART
WD40	533	572	6.99e-13	SMART
WD40	577	619	2.38e1	SMART
WD40	622	665	3.55e1	SMART
WD40	668	707	5.34e-9	SMART
WD40	710	753	1.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184280

Predicted Effect

probably benign
Transcript: ENSMUST00000206259
AA Change: R37Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Acsm3	T	C	7: 119,377,678 (GRCm39)	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gjd3	A	C	11: 102,691,733 (GRCm39)	M90R	probably damaging	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,297,774 (GRCm39)		probably null	Het
Iqcb1	A	G	16: 36,660,274 (GRCm39)	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Tsg101	T	C	7: 46,556,847 (GRCm39)	T61A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	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
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'- AAACTCGGTGGCTACGTAGG -3'
(R):5'- TGACAACTTGCTCCACACTC -3'

Sequencing Primer
(F):5'- TGGCTACGTAGGTCTCCG -3'
(R):5'- AACTTGCTCCACACTCCCTTTTC -3'

Posted On

2018-11-06