Mutagenetix > Incidental Mutation

Incidental Mutation 'R6781:Gfra3'

531437

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

044895-MU

Accession Numbers

Essential gene?

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

Stock #

R6781 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

34822951-34853440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34844375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 55 (K55R)

Ref Sequence

ENSEMBL: ENSMUSP00000025224 (fasta)

Gene Model

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

AlphaFold

O35118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025224
AA Change: K55R

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: K55R

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (45/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,593,380 (GRCm39)	I259N	possibly damaging	Het
Acot12	G	T	13: 91,932,531 (GRCm39)		probably null	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,162 (GRCm39)	L195P	probably damaging	Het
Aox4	A	T	1: 58,284,268 (GRCm39)	D556V	probably benign	Het
Arhgef40	A	C	14: 52,235,354 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,558,674 (GRCm39)	V63A	probably benign	Het
Bicd1	T	C	6: 149,414,664 (GRCm39)	I459T	possibly damaging	Het
Bub1	C	A	2: 127,649,777 (GRCm39)	G694W	probably damaging	Het
C4b	A	T	17: 34,961,928 (GRCm39)	I106N	probably damaging	Het
Clca4b	T	C	3: 144,628,562 (GRCm39)	I382V	probably benign	Het
Cntnap5a	A	C	1: 116,220,127 (GRCm39)	S646R	probably benign	Het
Cntnap5c	C	T	17: 58,445,648 (GRCm39)	Q563*	probably null	Het
Cpn1	A	G	19: 43,969,343 (GRCm39)	F107L	possibly damaging	Het
Csrnp3	T	A	2: 65,852,615 (GRCm39)	C336S	probably benign	Het
Defa3	T	A	8: 21,778,277 (GRCm39)	M87K	probably benign	Het
Dennd2b	T	C	7: 109,124,511 (GRCm39)	D1110G	possibly damaging	Het
Dmbt1	T	C	7: 130,648,291 (GRCm39)	F274L	probably benign	Het
Dnah8	TTA	TTATA	17: 30,984,698 (GRCm39)		probably null	Het
Dnase2b	T	C	3: 146,288,126 (GRCm39)	H323R	probably benign	Het
Fam83e	A	T	7: 45,371,571 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,158,958 (GRCm39)	N2269S	probably damaging	Het
Foxa1	A	T	12: 57,590,043 (GRCm39)	M59K	possibly damaging	Het
Fpr3	T	C	17: 18,190,978 (GRCm39)	V83A	probably benign	Het
Frmd6	A	G	12: 70,946,417 (GRCm39)	D615G	possibly damaging	Het
Gm5414	A	T	15: 101,534,096 (GRCm39)	S296T	possibly damaging	Het
Gtf3c1	T	A	7: 125,258,369 (GRCm39)	K1234*	probably null	Het
Hltf	T	A	3: 20,152,330 (GRCm39)	Y609N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift74	A	G	4: 94,515,539 (GRCm39)	D152G	probably damaging	Het
Kcnk6	T	C	7: 28,924,480 (GRCm39)	Y308C	probably damaging	Het
Klhl29	A	G	12: 5,141,347 (GRCm39)	S546P	probably damaging	Het
Map7d1	AGGGCAGCC	AGGGCAGCCGGGCAGCC	4: 126,134,544 (GRCm39)		probably null	Het
Meis2	T	A	2: 115,879,636 (GRCm39)	H228L	probably benign	Het
Mfsd10	A	T	5: 34,791,853 (GRCm39)	M344K	possibly damaging	Het
Mrps33	T	C	6: 39,782,757 (GRCm39)		probably benign	Het
Or2a52	A	G	6: 43,144,322 (GRCm39)	E110G	probably damaging	Het
Or4p23	A	T	2: 88,577,174 (GRCm39)	N19K	probably benign	Het
Pik3cb	T	C	9: 98,923,045 (GRCm39)	T996A	possibly damaging	Het
Plekha7	A	G	7: 115,757,090 (GRCm39)		probably null	Het
Ppp1cb	A	G	5: 32,638,106 (GRCm39)	Y86C	probably damaging	Het
Sass6	T	G	3: 116,388,773 (GRCm39)		probably benign	Het
Slc6a15	A	T	10: 103,230,928 (GRCm39)	I218F	probably damaging	Het
Tcf23	C	T	5: 31,126,304 (GRCm39)	P61L	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zc3h6	T	C	2: 128,857,341 (GRCm39)	F620S	probably 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
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
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'- ACCGTGATTCGCTGTAGGAC -3'
(R):5'- TCATGGTTTCATAGGGAATCTCC -3'

Sequencing Primer
(F):5'- GTGAACGGTCCAATAAATGTCC -3'
(R):5'- CCCTAACCTACCTCATGACTTAGTG -3'

Posted On

2018-08-29