Mutagenetix > Incidental Mutation

Incidental Mutation 'R4712:Gfral'

353313

Institutional Source

Beutler Lab

Gene Symbol

Gfral

Ensembl Gene

ENSMUSG00000059383

Gene Name

GDNF family receptor alpha like

Synonyms

GRAL

MMRRC Submission

041981-MU

Accession Numbers

Essential gene?

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

Stock #

R4712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76071389-76120939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76100727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 237 (Y237F)

Ref Sequence

ENSEMBL: ENSMUSP00000074421 (fasta)

Gene Model

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

AlphaFold

Q6SJE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074880
AA Change: Y237F

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: Y237F

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

0.1250

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	T	15: 83,111,810 (GRCm39)	N324K	probably damaging	Het
Ahcyl1	A	G	3: 107,574,547 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,641,382 (GRCm39)	N343K	probably benign	Het
Batf2	C	A	19: 6,221,357 (GRCm39)	Q56K	probably benign	Het
Cfh	A	T	1: 140,036,274 (GRCm39)	V691D	probably damaging	Het
Chst10	T	C	1: 38,904,922 (GRCm39)	Y257C	probably damaging	Het
Dlg5	A	T	14: 24,228,051 (GRCm39)	L290Q	possibly damaging	Het
Dnah2	T	A	11: 69,407,416 (GRCm39)	T456S	possibly damaging	Het
Dnah6	T	C	6: 73,001,995 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,697 (GRCm39)	K313R	probably damaging	Het
Eprs1	T	A	1: 185,160,305 (GRCm39)	N1500K	probably benign	Het
Fbn1	T	C	2: 125,183,236 (GRCm39)	T1748A	probably benign	Het
Gfra2	T	A	14: 71,163,377 (GRCm39)	L87H	probably damaging	Het
Gpr137b	T	C	13: 13,533,974 (GRCm39)	N361D	probably benign	Het
Gsdmc	G	T	15: 63,651,386 (GRCm39)	T272N	probably benign	Het
Hspe1	T	A	1: 55,128,269 (GRCm39)	S21R	probably benign	Het
Kctd16	G	T	18: 40,390,233 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,868,958 (GRCm39)	I483N	probably damaging	Het
Kif4-ps	T	C	12: 101,112,534 (GRCm39)		noncoding transcript	Het
Lpp	T	C	16: 24,580,407 (GRCm39)	V166A	possibly damaging	Het
Lrp2	A	C	2: 69,336,895 (GRCm39)	D1292E	probably damaging	Het
Manba	T	C	3: 135,250,575 (GRCm39)	Y401H	probably damaging	Het
Msh2	T	G	17: 87,985,813 (GRCm39)		probably benign	Het
Myef2	A	T	2: 124,930,757 (GRCm39)		probably benign	Het
Ncor1	T	A	11: 62,235,660 (GRCm39)	Q598L	probably damaging	Het
Obox3	A	G	7: 15,360,764 (GRCm39)	V125A	probably benign	Het
Or1n1	A	T	2: 36,750,381 (GRCm39)		probably null	Het
Or2b4	T	A	17: 38,116,591 (GRCm39)	L185*	probably null	Het
Or9k7	G	A	10: 130,046,291 (GRCm39)	T236I	possibly damaging	Het
Pcdh9	C	A	14: 94,126,067 (GRCm39)	L34F	probably damaging	Het
Pcdha3	A	T	18: 37,079,560 (GRCm39)	I101F	probably damaging	Het
Pced1b	A	G	15: 97,282,675 (GRCm39)	E238G	probably benign	Het
Pla2r1	A	T	2: 60,258,994 (GRCm39)	N1131K	probably damaging	Het
Prmt1	A	T	7: 44,631,060 (GRCm39)	S99R	probably damaging	Het
Qng1	G	A	13: 58,529,617 (GRCm39)	R332C	probably benign	Het
Rbp3	T	C	14: 33,682,615 (GRCm39)	S1116P	probably damaging	Het
Rhobtb2	T	C	14: 70,037,160 (GRCm39)	D88G	probably damaging	Het
Rngtt	A	G	4: 33,379,394 (GRCm39)	E432G	probably benign	Het
Sh3rf1	A	G	8: 61,814,793 (GRCm39)	T451A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Siva1	T	A	12: 112,613,336 (GRCm39)	D61E	probably benign	Het
Skor1	A	C	9: 63,046,855 (GRCm39)		probably null	Het
Slc20a1	A	G	2: 129,041,611 (GRCm39)		probably benign	Het
Slc2a7	A	G	4: 150,252,926 (GRCm39)	E522G	probably benign	Het
Tmprss7	A	T	16: 45,511,123 (GRCm39)	I85N	probably damaging	Het
Tpx2	T	A	2: 152,726,958 (GRCm39)	D408E	probably damaging	Het
Ulk4	A	T	9: 121,073,436 (GRCm39)	I551N	probably benign	Het
Zfat	A	T	15: 67,982,324 (GRCm39)		probably null	Het
Zfp101	C	A	17: 33,613,457 (GRCm39)		probably null	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
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
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

PCR Primer
(F):5'- CTGCAAGCACAGGGTACTTG -3'
(R):5'- AGTCTCAGGAAAGGATAGTAACTTGC -3'

Sequencing Primer
(F):5'- GTACTTGCAGGACTGTCCCAAAG -3'
(R):5'- GGATAGTAACTTGCACGTTTCACTC -3'

Posted On

2015-10-21