Mutagenetix > Incidental Mutation

Incidental Mutation 'R8833:Gfra2'

673999

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

068661-MU

Accession Numbers

Essential gene?

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

Stock #

R8833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71127560-71217278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71163337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 207 (F207L)

Ref Sequence

ENSEMBL: ENSMUSP00000022699 (fasta)

Gene Model

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

AlphaFold

O08842

Predicted Effect

probably damaging
Transcript: ENSMUST00000022699
AA Change: F207L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: F207L

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: F74L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.7502

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	A	13: 4,496,377 (GRCm39)	D132E	possibly damaging	Het
Armh4	C	T	14: 50,011,318 (GRCm39)	V130I	probably benign	Het
Atp10b	A	G	11: 43,112,986 (GRCm39)	E844G	probably damaging	Het
Bbx	T	A	16: 50,045,629 (GRCm39)	M311L	probably benign	Het
Bzw2	A	T	12: 36,169,069 (GRCm39)	M153K	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
Cdh4	A	G	2: 179,535,828 (GRCm39)	D793G	possibly damaging	Het
Ces4a	A	G	8: 105,858,614 (GRCm39)	I11V	probably benign	Het
Cpne9	T	C	6: 113,281,473 (GRCm39)	L518P	probably damaging	Het
Dip2c	T	A	13: 9,625,519 (GRCm39)		probably null	Het
Fam135b	T	C	15: 71,334,783 (GRCm39)	N804D	probably benign	Het
Frem3	G	A	8: 81,339,401 (GRCm39)	D565N	probably benign	Het
Fscb	T	A	12: 64,519,997 (GRCm39)	T490S	unknown	Het
Fuca1	A	G	4: 135,648,206 (GRCm39)	D31G	probably damaging	Het
Gbp8	G	T	5: 105,166,668 (GRCm39)	N220K	possibly damaging	Het
Grap2	A	G	15: 80,522,684 (GRCm39)	N70S	probably benign	Het
Ifna13	C	A	4: 88,562,157 (GRCm39)	E156*	probably null	Het
Jmjd1c	G	A	10: 67,054,162 (GRCm39)	R22H	probably benign	Het
Macf1	A	G	4: 123,365,134 (GRCm39)	V3209A	probably benign	Het
Muc5b	A	G	7: 141,412,105 (GRCm39)	T1684A	unknown	Het
Naip5	T	A	13: 100,359,442 (GRCm39)	E598V	probably damaging	Het
Niban1	T	A	1: 151,520,681 (GRCm39)	V125E	probably damaging	Het
Notch1	G	A	2: 26,371,615 (GRCm39)	T278I	probably damaging	Het
Or4d10c	A	G	19: 12,065,643 (GRCm39)	V171A	possibly damaging	Het
Or4k5	A	T	14: 50,385,823 (GRCm39)	C169*	probably null	Het
Or52z13	T	G	7: 103,247,444 (GRCm39)	F307C	possibly damaging	Het
Or5k14	A	T	16: 58,692,959 (GRCm39)	Y185N	probably damaging	Het
Orm1	A	T	4: 63,262,938 (GRCm39)	E35V	probably damaging	Het
Pak1	T	A	7: 97,503,839 (GRCm39)	I58N	possibly damaging	Het
Pard3b	A	G	1: 62,384,158 (GRCm39)	E841G	probably benign	Het
Pcdhb9	G	T	18: 37,534,468 (GRCm39)	R154I	probably benign	Het
Pdpr	G	A	8: 111,852,312 (GRCm39)	V560I	probably damaging	Het
Pkdcc	T	C	17: 83,531,355 (GRCm39)	F455L	probably damaging	Het
Potefam3c	A	T	8: 69,881,982 (GRCm39)	D331E	probably benign	Het
Pus7l	A	T	15: 94,438,143 (GRCm39)	F234Y	probably damaging	Het
Rab3gap2	T	A	1: 184,990,722 (GRCm39)	L632Q	probably damaging	Het
Rarb	T	A	14: 16,819,015 (GRCm38)		probably benign	Het
Ro60	T	A	1: 143,641,517 (GRCm39)	K315*	probably null	Het
Rom1	A	T	19: 8,905,471 (GRCm39)	H236Q	possibly damaging	Het
Secisbp2	T	C	13: 51,819,352 (GRCm39)	S311P	probably benign	Het
Slc26a1	T	C	5: 108,820,182 (GRCm39)	D355G	probably benign	Het
Slc28a3	C	T	13: 58,707,077 (GRCm39)	A574T	probably damaging	Het
Sox11	A	G	12: 27,392,313 (GRCm39)	V32A	possibly damaging	Het
Spata17	T	C	1: 186,915,436 (GRCm39)	Y107C	probably damaging	Het
Speer1a	C	A	5: 11,394,205 (GRCm39)	Y104*	probably null	Het
Stxbp5l	T	C	16: 37,024,814 (GRCm39)	T595A	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Tatdn2	T	G	6: 113,684,348 (GRCm39)	I674S	probably damaging	Het
Tex14	T	A	11: 87,383,878 (GRCm39)	S189R	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tor3a	T	C	1: 156,483,373 (GRCm39)	T350A	probably benign	Het
Ttr	T	G	18: 20,799,550 (GRCm39)	V36G	probably damaging	Het
Vmn1r129	A	T	7: 21,095,205 (GRCm39)	H4Q	probably null	Het
Vmn1r32	A	G	6: 66,530,623 (GRCm39)	M51T	possibly damaging	Het
Zfp141	T	C	7: 42,125,687 (GRCm39)	T262A	possibly damaging	Het
Zfp980	T	A	4: 145,427,596 (GRCm39)	N108K	probably benign	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
R4712:Gfra2	UTSW	14	71,163,377 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAAGTGGTCTGTACGACAC -3'

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

Posted On

2021-07-15