Mutagenetix > Incidental Mutation

Incidental Mutation 'R0107:Gfra3'

33351

Institutional Source

Beutler Lab

Gene Symbol

Gfra3

Ensembl Gene

ENSMUSG00000024366

Gene Name

glial cell line derived neurotrophic factor family receptor alpha 3

Synonyms

GFR alpha-3, GFRalpha3

MMRRC Submission

038393-MU

Accession Numbers

Essential gene?

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

Stock #

R0107 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

34822951-34853440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34844359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 60 (H60Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025224 (fasta)

Gene Model

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

AlphaFold

O35118

Predicted Effect

probably benign
Transcript: ENSMUST00000025224
AA Change: H60Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: H60Q

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

Meta Mutation Damage Score

0.1111

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,737 (GRCm39)	L397I	possibly damaging	Het
Abca1	A	G	4: 53,080,834 (GRCm39)	V825A	probably benign	Het
Adamts7	T	C	9: 90,062,773 (GRCm39)	I409T	possibly damaging	Het
Adck1	T	C	12: 88,413,426 (GRCm39)	W253R	possibly damaging	Het
Afg3l2	A	G	18: 67,564,836 (GRCm39)	F213L	probably damaging	Het
Ankle2	T	C	5: 110,400,893 (GRCm39)	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,611,537 (GRCm39)	R268H	probably benign	Het
Arb2a	A	G	13: 78,050,933 (GRCm39)	D145G	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,904,678 (GRCm39)		probably benign	Het
Cd320	A	T	17: 34,067,059 (GRCm39)	M169L	probably benign	Het
Chn1	A	G	2: 73,445,028 (GRCm39)	Y338H	probably damaging	Het
Chuk	T	A	19: 44,085,358 (GRCm39)	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,180,043 (GRCm39)	P663T	possibly damaging	Het
Dnajc24	T	G	2: 105,832,259 (GRCm39)		probably benign	Het
Fbn2	A	G	18: 58,189,275 (GRCm39)	V1617A	probably benign	Het
Fermt2	T	C	14: 45,702,279 (GRCm39)	N502D	probably damaging	Het
Frrs1	A	T	3: 116,690,365 (GRCm39)	I3F	probably damaging	Het
Fut1	C	A	7: 45,268,270 (GRCm39)	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,273,267 (GRCm39)	V1709A	probably benign	Het
Gm10750	T	A	2: 148,857,973 (GRCm39)	M93L	unknown	Het
Hmcn1	T	A	1: 150,462,766 (GRCm39)	I5124L	probably benign	Het
Hps3	A	C	3: 20,084,960 (GRCm39)	L76R	probably damaging	Het
Ifrd1	T	A	12: 40,264,080 (GRCm39)	Q105L	probably damaging	Het
Irs2	A	T	8: 11,054,691 (GRCm39)	V1247E	probably damaging	Het
Itgal	T	C	7: 126,927,731 (GRCm39)		probably benign	Het
Ivns1abp	A	T	1: 151,237,321 (GRCm39)	N495I	probably damaging	Het
Kank1	T	A	19: 25,407,730 (GRCm39)		probably benign	Het
Mroh8	T	C	2: 157,067,388 (GRCm39)	Q657R	probably benign	Het
Mthfd1l	T	C	10: 3,991,838 (GRCm39)	Y597H	probably benign	Het
Myom1	G	A	17: 71,384,360 (GRCm39)	V692I	probably damaging	Het
Or13a17	A	T	7: 140,271,258 (GRCm39)	M147L	probably benign	Het
Or1j18	T	G	2: 36,624,730 (GRCm39)	Y132*	probably null	Het
Or7g20	A	G	9: 18,946,629 (GRCm39)	D70G	probably damaging	Het
Palmd	A	T	3: 116,717,725 (GRCm39)	H257Q	probably damaging	Het
Pcnx2	A	T	8: 126,480,325 (GRCm39)	V1994D	probably benign	Het
Phkb	G	A	8: 86,743,560 (GRCm39)	G553S	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,232,356 (GRCm39)	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,569 (GRCm39)	D886E	probably damaging	Het
Rcn1	T	A	2: 105,225,126 (GRCm39)	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Slc6a19	A	G	13: 73,832,176 (GRCm39)	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,395,783 (GRCm39)	D611E	probably benign	Het
Slitrk6	T	C	14: 110,989,395 (GRCm39)	E104G	possibly damaging	Het
Spag17	A	T	3: 99,958,103 (GRCm39)	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,119,133 (GRCm39)	S82G	probably benign	Het
Tlk1	T	C	2: 70,544,333 (GRCm39)	*767W	probably null	Het
Tln2	A	G	9: 67,277,988 (GRCm39)	V342A	probably damaging	Het
Tmem104	T	A	11: 115,093,006 (GRCm39)	M132K	probably damaging	Het
Tmem184c	A	G	8: 78,323,702 (GRCm39)	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,327,411 (GRCm39)	V34A	possibly damaging	Het
Trim46	A	G	3: 89,143,640 (GRCm39)	F596S	probably damaging	Het
Unc79	T	A	12: 103,100,784 (GRCm39)	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,614,253 (GRCm39)	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,449,728 (GRCm39)	T46S	probably benign	Het
Vps13a	A	T	19: 16,669,188 (GRCm39)	L1341Q	probably benign	Het
Wdr72	A	T	9: 74,117,715 (GRCm39)	D821V	probably damaging	Het
Zfhx4	T	C	3: 5,464,042 (GRCm39)	L1400P	probably damaging	Het
Zfp217	T	A	2: 169,956,794 (GRCm39)	K735*	probably null	Het
Zfp235	A	G	7: 23,836,541 (GRCm39)	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,923,167 (GRCm39)	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,668,751 (GRCm39)	T401A	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
IGL02051:Gfra3	APN	18	34,828,894 (GRCm39)	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- GGACAGTGGTCTTACCAAGGCTTC -3'
(R):5'- CTGGACTGAGCAACTTCTTCCCATC -3'

Sequencing Primer
(F):5'- TTACCAAGGCTTCGGGCAG -3'
(R):5'- tgaagcaaccagtgccc -3'

Posted On

2013-05-09