Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Gfral'

165117

Institutional Source

Beutler Lab

Gene Symbol

Gfral

Ensembl Gene

ENSMUSG00000059383

Gene Name

GDNF family receptor alpha like

Synonyms

GRAL

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76071389-76120939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76074341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 368 (V368A)

Ref Sequence

ENSEMBL: ENSMUSP00000074421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074880] [ENSMUST00000184693]

AlphaFold

Q6SJE0

Predicted Effect

probably benign
Transcript: ENSMUST00000074880
AA Change: V368A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: V368A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
GDNF	24	99	4.05e0	SMART
GDNF	131	210	1.15e-19	SMART
GDNF	220	316	3.15e-17	SMART
transmembrane domain	351	370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184693

SMART Domains

Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
GDNF	24	99	4.05e0	SMART
GDNF	131	210	1.15e-19	SMART

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to increased susceptibility to diet-induced obesity caused by overeating and reduced glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,679,795 (GRCm39)	V1848E	probably damaging	Het
Alpk3	A	G	7: 80,727,343 (GRCm39)	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,389,756 (GRCm39)	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,404,130 (GRCm39)		probably benign	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	probably benign	Het
Dync1i2	C	T	2: 71,058,164 (GRCm39)		probably benign	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frg1	A	G	8: 41,864,254 (GRCm39)		probably benign	Het
Fzd2	A	T	11: 102,496,206 (GRCm39)	S217C	possibly damaging	Het
Gaa	G	T	11: 119,165,730 (GRCm39)	R81L	probably damaging	Het
Gm10774	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830 (GRCm39)	N545K	probably damaging	Het
Herc2	T	C	7: 55,796,444 (GRCm39)	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231 (GRCm39)	I53T	probably benign	Het
Iqub	G	A	6: 24,505,627 (GRCm39)	L94F	possibly damaging	Het
Kpna1	C	T	16: 35,853,749 (GRCm39)	R460*	probably null	Het
Masp1	T	C	16: 23,310,865 (GRCm39)	E189G	probably damaging	Het
Mogat1	A	G	1: 78,500,250 (GRCm39)	I105V	probably benign	Het
Mpi	A	G	9: 57,452,472 (GRCm39)		probably benign	Het
Msh2	C	A	17: 87,987,488 (GRCm39)	D209E	probably benign	Het
Nsf	G	A	11: 103,719,364 (GRCm39)	T646I	probably damaging	Het
Or10g9b	A	T	9: 39,917,390 (GRCm39)	V285D	possibly damaging	Het
Or4c10b	C	T	2: 89,711,550 (GRCm39)	P127S	probably damaging	Het
Or5b24	T	A	19: 12,912,329 (GRCm39)	S76T	possibly damaging	Het
Or6b2	G	A	1: 92,407,612 (GRCm39)	H244Y	probably damaging	Het
Otogl	T	A	10: 107,722,374 (GRCm39)	I327F	probably damaging	Het
Pappa2	T	C	1: 158,682,552 (GRCm39)	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512 (GRCm39)		probably benign	Het
Pfkfb4	A	G	9: 108,836,794 (GRCm39)	E163G	probably benign	Het
Phc1	T	C	6: 122,300,416 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Ppfia3	A	C	7: 45,001,639 (GRCm39)	D424E	probably benign	Het
Prss16	A	G	13: 22,191,138 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,178,711 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,380,239 (GRCm39)	S919N	probably benign	Het
Sec31a	T	C	5: 100,510,032 (GRCm39)	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,274,445 (GRCm39)	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,589,646 (GRCm39)	V539A	probably benign	Het
Sf3b5	A	G	10: 12,884,575 (GRCm39)	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tor1aip2	T	C	1: 155,940,483 (GRCm39)	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,813,733 (GRCm39)	E380G	probably damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Zfp110	A	G	7: 12,580,721 (GRCm39)		probably null	Het
Zfp335	G	A	2: 164,738,043 (GRCm39)	A856V	probably benign	Het
Zfp652	G	A	11: 95,640,608 (GRCm39)	E178K	possibly damaging	Het

Other mutations in Gfral

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Gfral	APN	9	76,072,107 (GRCm39)	nonsense	probably null
IGL02383:Gfral	APN	9	76,104,374 (GRCm39)	missense	probably damaging	0.97
IGL02987:Gfral	APN	9	76,104,583 (GRCm39)	missense	possibly damaging	0.82
IGL03002:Gfral	APN	9	76,104,520 (GRCm39)	missense	possibly damaging	0.61
IGL03055:Gfral	UTSW	9	76,115,831 (GRCm39)	missense	probably benign	0.00
PIT4585001:Gfral	UTSW	9	76,104,576 (GRCm39)	missense	probably damaging	1.00
R0268:Gfral	UTSW	9	76,104,383 (GRCm39)	missense	probably damaging	1.00
R0547:Gfral	UTSW	9	76,115,924 (GRCm39)	missense	probably benign	0.16
R1146:Gfral	UTSW	9	76,074,341 (GRCm39)	missense	probably benign	0.00
R1275:Gfral	UTSW	9	76,104,314 (GRCm39)	missense	probably damaging	1.00
R1830:Gfral	UTSW	9	76,100,485 (GRCm39)	missense	probably benign	0.01
R2249:Gfral	UTSW	9	76,100,631 (GRCm39)	missense	probably damaging	1.00
R3709:Gfral	UTSW	9	76,100,725 (GRCm39)	nonsense	probably null
R4712:Gfral	UTSW	9	76,100,727 (GRCm39)	missense	possibly damaging	0.71
R5567:Gfral	UTSW	9	76,115,900 (GRCm39)	missense	probably benign	0.00
R5568:Gfral	UTSW	9	76,072,087 (GRCm39)	makesense	probably null
R5719:Gfral	UTSW	9	76,104,328 (GRCm39)	missense	probably benign	0.02
R5789:Gfral	UTSW	9	76,104,328 (GRCm39)	missense	probably benign	0.02
R5791:Gfral	UTSW	9	76,104,328 (GRCm39)	missense	probably benign	0.02
R7110:Gfral	UTSW	9	76,072,112 (GRCm39)	missense	possibly damaging	0.84
R7549:Gfral	UTSW	9	76,106,257 (GRCm39)	missense	probably benign	0.14
R7782:Gfral	UTSW	9	76,100,572 (GRCm39)	missense	probably benign	0.43
R7851:Gfral	UTSW	9	76,112,737 (GRCm39)	missense	probably benign	0.03
R9160:Gfral	UTSW	9	76,104,372 (GRCm39)	missense	possibly damaging	0.83
R9568:Gfral	UTSW	9	76,104,383 (GRCm39)	missense	probably damaging	1.00
Z1177:Gfral	UTSW	9	76,112,671 (GRCm39)	missense	probably benign	0.26

Predicted Primers

Posted On

2014-03-28