Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Fkrp'

436816

Institutional Source

Beutler Lab

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

A830029B19Rik, MDC1C, LGMD1I

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5566 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

16809246-16816732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16810924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 338 (V338M)

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 damaging
Transcript: ENSMUST00000061390
AA Change: V338M

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

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: V338M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692 (GRCm38)	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615 (GRCm38)	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927 (GRCm38)	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967 (GRCm38)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850 (GRCm38)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455 (GRCm38)		probably null	Het
Adh4	A	T	3: 138,424,189 (GRCm38)	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424 (GRCm38)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648 (GRCm38)	D280G	probably benign	Het
Baiap3	T	C	17: 25,251,733 (GRCm38)	E71G	probably damaging	Het
BC030867	T	A	11: 102,255,833 (GRCm38)	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700 (GRCm38)	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660 (GRCm38)	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575 (GRCm38)	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878 (GRCm38)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475 (GRCm38)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250 (GRCm38)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523 (GRCm38)		probably null	Het
Csmd2	T	C	4: 128,462,889 (GRCm38)		probably null	Het
Ctps	A	T	4: 120,554,103 (GRCm38)		probably null	Het
Cyp39a1	T	A	17: 43,685,208 (GRCm38)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928 (GRCm38)	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273 (GRCm38)	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366 (GRCm38)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569 (GRCm38)	E158*	probably null	Het
Edar	A	G	10: 58,628,641 (GRCm38)	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766 (GRCm38)	C339*	probably null	Het
Eif5b	G	A	1: 38,051,247 (GRCm38)	G1169E	probably damaging	Het
Eif5b	G	A	1: 38,045,684 (GRCm38)	V871I	possibly damaging	Het
Erap1	A	G	13: 74,662,412 (GRCm38)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,614,301 (GRCm38)	T790S	possibly damaging	Het
Gabra6	T	C	11: 42,307,490 (GRCm38)	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641 (GRCm38)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999 (GRCm38)		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919 (GRCm38)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938 (GRCm38)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594 (GRCm38)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297 (GRCm38)	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537 (GRCm38)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754 (GRCm38)	Y167*	probably null	Het
Htt	T	C	5: 34,849,075 (GRCm38)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298 (GRCm38)	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762 (GRCm38)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952 (GRCm38)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554 (GRCm38)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903 (GRCm38)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354 (GRCm38)	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924 (GRCm38)	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858 (GRCm38)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164 (GRCm38)	Q4592R	probably damaging	Het
Map3k5	T	C	10: 20,110,719 (GRCm38)	V893A	probably damaging	Het
Med13l	G	T	5: 118,728,665 (GRCm38)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183 (GRCm38)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530 (GRCm38)	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816 (GRCm38)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136 (GRCm38)	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135 (GRCm38)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653 (GRCm38)	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377 (GRCm38)	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969 (GRCm38)	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067 (GRCm38)	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020 (GRCm38)	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293 (GRCm38)	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969 (GRCm38)	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346 (GRCm38)	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405 (GRCm38)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710 (GRCm38)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326 (GRCm38)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774 (GRCm38)	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953 (GRCm38)	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027 (GRCm38)	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534 (GRCm38)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970 (GRCm38)	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603 (GRCm38)	T362I	possibly damaging	Het
Sos1	C	T	17: 80,453,890 (GRCm38)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,525,303 (GRCm38)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,743,287 (GRCm38)	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110 (GRCm38)	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900 (GRCm38)	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006 (GRCm38)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487 (GRCm38)	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436 (GRCm38)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035 (GRCm38)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726 (GRCm38)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770 (GRCm38)	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094 (GRCm38)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480 (GRCm38)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290 (GRCm38)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823 (GRCm38)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078 (GRCm38)	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050 (GRCm38)	E300*	probably null	Het
Xdh	T	C	17: 73,893,622 (GRCm38)	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629 (GRCm38)	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444 (GRCm38)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766 (GRCm38)	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075 (GRCm38)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824 (GRCm38)	E285G	probably damaging	Het

Other mutations in Fkrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Fkrp	APN	7	16,811,490 (GRCm38)	missense	probably benign	0.02
R1177:Fkrp	UTSW	7	16,810,527 (GRCm38)	missense	probably damaging	1.00
R1722:Fkrp	UTSW	7	16,810,794 (GRCm38)	missense	probably benign	0.20
R1984:Fkrp	UTSW	7	16,811,877 (GRCm38)	missense	probably benign	0.11
R2519:Fkrp	UTSW	7	16,810,952 (GRCm38)	nonsense	probably null
R5227:Fkrp	UTSW	7	16,810,710 (GRCm38)	missense	possibly damaging	0.95
R6513:Fkrp	UTSW	7	16,811,112 (GRCm38)	missense	possibly damaging	0.90
R6939:Fkrp	UTSW	7	16,811,826 (GRCm38)	missense	probably benign	0.00
R8861:Fkrp	UTSW	7	16,810,824 (GRCm38)	missense	probably damaging	1.00
R9054:Fkrp	UTSW	7	16,810,644 (GRCm38)	missense	probably damaging	1.00
R9718:Fkrp	UTSW	7	16,811,187 (GRCm38)	missense	probably benign	0.26

Predicted Primers

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

Sequencing Primer
(F):5'- GGAAGAAGTCGCCCTCCAC -3'
(R):5'- TGCGCTCGTTGGGAATCC -3'

Posted On

2016-10-24