Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02051:Gfra3'

186109

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

GFR alpha-3, GFRalpha3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

IGL02051

Quality Score

Status

Chromosome

Chromosomal Location

34822951-34853440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34828894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 167 (T167A)

Ref Sequence

ENSEMBL: ENSMUSP00000025224 (fasta)

Gene Model

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

AlphaFold

O35118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025224
AA Change: T167A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: T167A

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacul1	T	C	19: 60,531,504 (GRCm39)	D255G	probably damaging	Het
Chi3l1	T	C	1: 134,111,887 (GRCm39)	S94P	probably damaging	Het
Defa38	A	G	8: 21,585,275 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,792,617 (GRCm39)	T223A	probably benign	Het
Firrm	T	C	1: 163,785,091 (GRCm39)	T763A	probably benign	Het
Glb1l3	T	C	9: 26,736,464 (GRCm39)	I533V	probably benign	Het
Gm11437	T	A	11: 84,043,592 (GRCm39)	Q233L	probably benign	Het
Hif1an	A	G	19: 44,551,829 (GRCm39)	Y93C	probably damaging	Het
Hspg2	A	G	4: 137,295,700 (GRCm39)		probably benign	Het
Ints15	A	G	5: 143,293,737 (GRCm39)	C247R	probably damaging	Het
Mak	G	A	13: 41,195,558 (GRCm39)	A385V	probably benign	Het
Mical2	G	T	7: 111,980,597 (GRCm39)	K190N	probably benign	Het
Moxd1	A	G	10: 24,128,916 (GRCm39)		probably null	Het
Ptpn5	A	G	7: 46,732,507 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,771,083 (GRCm39)	Y2614H	probably benign	Het
Sema3e	T	A	5: 14,274,324 (GRCm39)	Y192N	possibly damaging	Het
Smpd4	T	C	16: 17,444,382 (GRCm39)	L145P	probably damaging	Het
Tesk2	A	G	4: 116,608,381 (GRCm39)	E101G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,948 (GRCm39)	V50E	probably benign	Het
Vpreb3	G	A	10: 75,784,244 (GRCm39)		probably null	Het
Vps72	T	C	3: 95,030,040 (GRCm39)	L353P	possibly damaging	Het

Other mutations in Gfra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Gfra3	APN	18	34,824,601 (GRCm39)	critical splice donor site	probably null
IGL01778:Gfra3	APN	18	34,824,644 (GRCm39)	missense	possibly damaging	0.65
R0107:Gfra3	UTSW	18	34,844,359 (GRCm39)	missense	probably benign	0.04
R0573:Gfra3	UTSW	18	34,824,668 (GRCm39)	missense	probably benign
R1029:Gfra3	UTSW	18	34,823,892 (GRCm39)	missense	probably benign	0.01
R1870:Gfra3	UTSW	18	34,844,373 (GRCm39)	missense	probably damaging	0.97
R2512:Gfra3	UTSW	18	34,837,564 (GRCm39)	missense	probably benign	0.04
R4689:Gfra3	UTSW	18	34,823,640 (GRCm39)	missense	unknown
R4801:Gfra3	UTSW	18	34,853,245 (GRCm39)	missense	probably damaging	0.98
R4802:Gfra3	UTSW	18	34,853,245 (GRCm39)	missense	probably damaging	0.98
R4884:Gfra3	UTSW	18	34,844,304 (GRCm39)	missense	probably benign	0.00
R5824:Gfra3	UTSW	18	34,844,264 (GRCm39)	missense	probably damaging	1.00
R6111:Gfra3	UTSW	18	34,823,927 (GRCm39)	missense	probably damaging	1.00
R6192:Gfra3	UTSW	18	34,837,582 (GRCm39)	missense	possibly damaging	0.87
R6228:Gfra3	UTSW	18	34,828,846 (GRCm39)	missense	probably damaging	1.00
R6251:Gfra3	UTSW	18	34,828,864 (GRCm39)	frame shift	probably null
R6759:Gfra3	UTSW	18	34,828,926 (GRCm39)	nonsense	probably null
R6781:Gfra3	UTSW	18	34,844,375 (GRCm39)	missense	possibly damaging	0.56
R6894:Gfra3	UTSW	18	34,828,710 (GRCm39)	missense	probably damaging	1.00
R7021:Gfra3	UTSW	18	34,823,933 (GRCm39)	missense	probably benign	0.00
R7232:Gfra3	UTSW	18	34,844,234 (GRCm39)	missense	probably damaging	1.00
R7236:Gfra3	UTSW	18	34,828,884 (GRCm39)	missense	probably damaging	0.99
R8830:Gfra3	UTSW	18	34,844,189 (GRCm39)	missense	possibly damaging	0.93
R8987:Gfra3	UTSW	18	34,823,879 (GRCm39)	missense	probably benign	0.14
R9329:Gfra3	UTSW	18	34,837,560 (GRCm39)	missense	probably damaging	1.00
R9664:Gfra3	UTSW	18	34,837,591 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07