Mutagenetix > Incidental Mutation

Incidental Mutation 'R4712:Gfra2'

353325

Institutional Source

Beutler Lab

Gene Symbol

Gfra2

Ensembl Gene

ENSMUSG00000022103

Gene Name

glial cell line derived neurotrophic factor family receptor alpha 2

Synonyms

GFR alpha 2, GFR alpha-2

MMRRC Submission

041981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R4712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71127560-71217278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71163377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 87 (L87H)

Ref Sequence

ENSEMBL: ENSMUSP00000154391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227697]

AlphaFold

O08842

Predicted Effect

probably damaging
Transcript: ENSMUST00000022699
AA Change: L220H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: L220H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
GDNF	40	117	1.76e-15	SMART
GDNF	161	241	3.7e-23	SMART
GDNF	251	347	1.74e-28	SMART
low complexity region	381	397	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000227697
AA Change: L87H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9208

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression. [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
Gfral	T	A	9: 76,100,727 (GRCm39)	Y237F	possibly 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 Gfra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Gfra2	APN	14	71,205,679 (GRCm39)	splice site	probably benign
IGL01303:Gfra2	APN	14	71,133,292 (GRCm39)	missense	probably benign	0.09
IGL01380:Gfra2	APN	14	71,204,586 (GRCm39)	splice site	probably benign
IGL01528:Gfra2	APN	14	71,203,738 (GRCm39)	missense	possibly damaging	0.95
IGL02203:Gfra2	APN	14	71,204,524 (GRCm39)	missense	possibly damaging	0.69
IGL02270:Gfra2	APN	14	71,163,347 (GRCm39)	missense	possibly damaging	0.78
IGL03104:Gfra2	APN	14	71,205,725 (GRCm39)	missense	probably benign	0.00
IGL03270:Gfra2	APN	14	71,163,344 (GRCm39)	missense	possibly damaging	0.80
H8562:Gfra2	UTSW	14	71,215,818 (GRCm39)	missense	possibly damaging	0.94
H8786:Gfra2	UTSW	14	71,215,818 (GRCm39)	missense	possibly damaging	0.94
R0423:Gfra2	UTSW	14	71,133,521 (GRCm39)	missense	probably damaging	1.00
R4120:Gfra2	UTSW	14	71,203,715 (GRCm39)	missense	probably damaging	1.00
R4172:Gfra2	UTSW	14	71,133,521 (GRCm39)	missense	possibly damaging	0.80
R4804:Gfra2	UTSW	14	71,163,361 (GRCm39)	missense	possibly damaging	0.76
R4902:Gfra2	UTSW	14	71,204,455 (GRCm39)	missense	probably damaging	1.00
R5424:Gfra2	UTSW	14	71,133,287 (GRCm39)	missense	probably damaging	1.00
R6711:Gfra2	UTSW	14	71,203,715 (GRCm39)	missense	probably damaging	1.00
R7290:Gfra2	UTSW	14	71,163,380 (GRCm39)	missense	probably damaging	1.00
R7322:Gfra2	UTSW	14	71,205,831 (GRCm39)	missense	probably benign	0.00
R7814:Gfra2	UTSW	14	71,133,410 (GRCm39)	missense	probably damaging	1.00
R8159:Gfra2	UTSW	14	71,133,397 (GRCm39)	missense	probably damaging	0.98
R8557:Gfra2	UTSW	14	71,214,737 (GRCm39)	missense	probably benign	0.05
R8831:Gfra2	UTSW	14	71,204,503 (GRCm39)	missense	probably benign	0.02
R8833:Gfra2	UTSW	14	71,163,337 (GRCm39)	missense	probably damaging	1.00
R9072:Gfra2	UTSW	14	71,138,935 (GRCm39)	missense	possibly damaging	0.69
R9073:Gfra2	UTSW	14	71,138,935 (GRCm39)	missense	possibly damaging	0.69
R9444:Gfra2	UTSW	14	71,203,751 (GRCm39)	missense	possibly damaging	0.55
Z1177:Gfra2	UTSW	14	71,215,932 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- ACATGTGTCCATTCCCTGTG -3'
(R):5'- GACCTTGTAACATAGGCCAACC -3'

Sequencing Primer
(F):5'- TTTGCCTTCCAGGGACAGG -3'
(R):5'- TTGTAACATAGGCCAACCACATGAG -3'

Posted On

2015-10-21