Mutagenetix > Incidental Mutation

Incidental Mutation 'H8786:Gfra2'

44469

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

Accession Numbers

Essential gene?

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

Stock #

H8786 (G3) of strain 617

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71127560-71217278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71215818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 169 (T169M)

Ref Sequence

ENSEMBL: ENSMUSP00000153937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227633] [ENSMUST00000227697]

AlphaFold

O08842

Predicted Effect

probably benign
Transcript: ENSMUST00000022699
AA Change: T426M

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: T426M

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

possibly damaging
Transcript: ENSMUST00000227633
AA Change: T169M

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000227697
AA Change: T293M

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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
4921504E06Rik	A	G	2: 19,498,905 (GRCm39)	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 130,740,906 (GRCm39)	R103S	probably damaging	Het
Aars1	A	G	8: 111,772,187 (GRCm39)	D459G	probably benign	Het
Adam25	A	T	8: 41,207,261 (GRCm39)	M176L	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Ano8	A	T	8: 71,931,388 (GRCm39)		probably benign	Het
Arhgef28	T	A	13: 98,083,461 (GRCm39)	Q1136L	probably damaging	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
Avpr1a	A	T	10: 122,285,373 (GRCm39)	M222L	probably benign	Het
B4galnt4	A	T	7: 140,651,235 (GRCm39)	M939L	probably damaging	Het
B4galt6	A	G	18: 20,822,001 (GRCm39)	F331S	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Caml	T	G	13: 55,776,409 (GRCm39)	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Ces1h	A	C	8: 94,089,550 (GRCm39)	V283G	probably damaging	Het
Clptm1	A	T	7: 19,369,629 (GRCm39)	V427D	possibly damaging	Het
Drd1	T	A	13: 54,207,122 (GRCm39)	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,743,441 (GRCm39)	S181W	probably damaging	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636 (GRCm38)		probably null	Het
Hsd11b1	C	A	1: 192,922,560 (GRCm39)	A166S	probably benign	Het
Kcnab3	T	A	11: 69,219,093 (GRCm39)	F101L	probably damaging	Het
Klf6	C	A	13: 5,911,790 (GRCm39)	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,670,898 (GRCm39)	P191L	unknown	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Mrgprd	T	C	7: 144,876,004 (GRCm39)	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,053,725 (GRCm39)	I127T	possibly damaging	Het
Myo7a	T	G	7: 97,744,985 (GRCm39)	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,041,304 (GRCm39)	F297S	probably damaging	Het
Npas1	A	G	7: 16,195,275 (GRCm39)	I351T	possibly damaging	Het
Or12k7	A	G	2: 36,958,341 (GRCm39)	E8G	probably benign	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or9e1	A	T	11: 58,732,146 (GRCm39)	I69F	probably benign	Het
Parp11	A	G	6: 127,448,598 (GRCm39)	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,427,396 (GRCm39)	V300A	probably damaging	Het
Pik3cb	T	C	9: 98,928,612 (GRCm39)	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,539,281 (GRCm39)	L57*	probably null	Het
Rela	T	A	19: 5,697,046 (GRCm39)	S418T	probably benign	Het
Rptn	A	G	3: 93,305,180 (GRCm39)	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,560,955 (GRCm39)	N413K	possibly damaging	Het
Slc6a2	A	G	8: 93,721,268 (GRCm39)	I466V	probably benign	Het
Slco4c1	A	T	1: 96,768,876 (GRCm39)	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,077,691 (GRCm39)	M164V	probably benign	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
Sqor	A	C	2: 122,634,288 (GRCm39)	I142L	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Tlk2	T	A	11: 105,145,805 (GRCm39)	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589 (GRCm39)	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,068,182 (GRCm39)	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,246,585 (GRCm39)	K36N	probably damaging	Het
Trim72	T	C	7: 127,603,963 (GRCm39)	L103P	probably damaging	Het
Tut4	T	C	4: 108,408,012 (GRCm39)		probably null	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vwa2	T	A	19: 56,898,164 (GRCm39)	M721K	possibly damaging	Het
Zfp143	T	G	7: 109,693,575 (GRCm39)	D636E	probably damaging	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
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
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'- TGCCCAGTTACCCATAGATACAGCC -3'
(R):5'- CTGGTCCAGAGAGAAAACACCAGTG -3'

Sequencing Primer
(F):5'- ATAGATACAGCCCTGTCCTCGG -3'
(R):5'- gagagagagagagagagagagagag -3'

Posted On

2013-06-11