Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Gfra3'

153738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfra3

Ensembl Gene

ENSMUSG00000024366

Gene Name

glial cell line derived neurotrophic factor family receptor alpha 3

Synonyms

GFRalpha3, GFR alpha-3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

34689903-34720387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34691591 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

Ref Sequence

ENSEMBL: ENSMUSP00000025224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025224]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025224
AA Change: T280A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: T280A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
GDNF	41	122	1.33e-15	SMART
GDNF	159	236	5.57e-18	SMART
GDNF	245	337	9.84e-28	SMART
low complexity region	380	393	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a cell surface glycoprotein and member of the glial cell line-derived neurotrophic receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein mediates binding of the ligand artemin to the ret receptor tyrosine kinase, and this interaction may regulate thermal pain and axon regeneration. Homozygous knockout mice for this gene exhibit impaired proliferation of cultured neuroblasts and impaired development of the superior cervical ganglion. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display ptosis and poor development of the sympathetic chain ganglia and associated nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Gfra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Gfra3	APN	18	34691548	critical splice donor site	probably null
IGL02051:Gfra3	APN	18	34695841	missense	possibly damaging	0.95
R0107:Gfra3	UTSW	18	34711306	missense	probably benign	0.04
R0573:Gfra3	UTSW	18	34691615	missense	probably benign
R1029:Gfra3	UTSW	18	34690839	missense	probably benign	0.01
R1870:Gfra3	UTSW	18	34711320	missense	probably damaging	0.97
R2512:Gfra3	UTSW	18	34704511	missense	probably benign	0.04
R4689:Gfra3	UTSW	18	34690587	missense	unknown
R4801:Gfra3	UTSW	18	34720192	missense	probably damaging	0.98
R4802:Gfra3	UTSW	18	34720192	missense	probably damaging	0.98
R4884:Gfra3	UTSW	18	34711251	missense	probably benign	0.00
R5824:Gfra3	UTSW	18	34711211	missense	probably damaging	1.00
R6111:Gfra3	UTSW	18	34690874	missense	probably damaging	1.00
R6192:Gfra3	UTSW	18	34704529	missense	possibly damaging	0.87
R6228:Gfra3	UTSW	18	34695793	missense	probably damaging	1.00
R6251:Gfra3	UTSW	18	34695811	frame shift	probably null
R6759:Gfra3	UTSW	18	34695873	nonsense	probably null
R6781:Gfra3	UTSW	18	34711322	missense	possibly damaging	0.56
R6894:Gfra3	UTSW	18	34695657	missense	probably damaging	1.00
R7021:Gfra3	UTSW	18	34690880	missense	probably benign	0.00
R7232:Gfra3	UTSW	18	34711181	missense	probably damaging	1.00
R7236:Gfra3	UTSW	18	34695831	missense	probably damaging	0.99

Posted On

2014-02-04