Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02966:Gfra4'

365563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfra4

Ensembl Gene

ENSMUSG00000027316

Gene Name

glial cell line derived neurotrophic factor family receptor alpha 4

Synonyms

G630015H18Rik, GFR alpha-4

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

130881552-130885008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130884560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 15 (A15S)

Ref Sequence

ENSEMBL: ENSMUSP00000105863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028787] [ENSMUST00000066958] [ENSMUST00000110234] [ENSMUST00000110235] [ENSMUST00000110239] [ENSMUST00000110240]

AlphaFold

Q9JJT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028787
AA Change: A15S

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028787
Gene: ENSMUSG00000027316
AA Change: A15S

Domain	Start	End	E-Value	Type
GDNF	35	120	6.76e-17	SMART
GDNF	132	226	1.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066958

SMART Domains

Protein: ENSMUSP00000068357
Gene: ENSMUSG00000027316

Domain	Start	End	E-Value	Type
GDNF	26	111	6.76e-17	SMART
GDNF	123	217	1.2e-31	SMART
low complexity region	248	260	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110234
AA Change: A15S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105863
Gene: ENSMUSG00000027316
AA Change: A15S

Domain	Start	End	E-Value	Type
GDNF	35	120	6.76e-17	SMART
low complexity region	132	147	N/A	INTRINSIC
low complexity region	169	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110235

SMART Domains

Protein: ENSMUSP00000105864
Gene: ENSMUSG00000027316

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GDNF	26	111	6.76e-17	SMART
low complexity region	123	138	N/A	INTRINSIC
low complexity region	160	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110239
AA Change: A15S

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105868
Gene: ENSMUSG00000027316
AA Change: A15S

Domain	Start	End	E-Value	Type
GDNF	35	120	6.76e-17	SMART
GDNF	132	226	1.2e-31	SMART
low complexity region	257	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110240

SMART Domains

Protein: ENSMUSP00000105869
Gene: ENSMUSG00000027316

Domain	Start	End	E-Value	Type
GDNF	26	111	6.76e-17	SMART
GDNF	123	217	1.2e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156509

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for persephin, a member of the glial cell line derived neurotrophic factors. The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the receptor tyrosine kinase Ret. A complete lack of the encoded protein impairs production of thyroid calcitonin and increases the rate of bone formation in young mice. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations are mice were viable, fertile, showed no overt anatomical defects. Thyroid tissue calcitonin content was reduced in null homozygotes and rate of bone formation was enhanced when in 129/B6 hybrid background strain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 80,463,317 (GRCm39)	Y797N	possibly damaging	Het
Actbl2	G	A	13: 111,392,106 (GRCm39)	G147E	probably damaging	Het
Adam18	A	T	8: 25,101,165 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,880,556 (GRCm39)	V175I	probably benign	Het
Alox12	T	A	11: 70,140,911 (GRCm39)	T375S	probably damaging	Het
Batf2	C	A	19: 6,221,819 (GRCm39)	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,385,494 (GRCm39)	S76P	probably damaging	Het
Bphl	A	T	13: 34,247,980 (GRCm39)	H251L	probably damaging	Het
C130074G19Rik	C	A	1: 184,614,943 (GRCm39)	E82D	probably damaging	Het
Calu	A	T	6: 29,356,584 (GRCm39)	K39*	probably null	Het
Capns1	T	C	7: 29,891,618 (GRCm39)	D142G	probably damaging	Het
Ccr8	T	C	9: 119,923,206 (GRCm39)	V107A	probably damaging	Het
Cep170b	G	A	12: 112,702,878 (GRCm39)	G447D	possibly damaging	Het
Chat	C	T	14: 32,170,903 (GRCm39)	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,075,575 (GRCm39)	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,771,249 (GRCm39)	T145A	probably benign	Het
Dgkq	T	A	5: 108,804,287 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,369,948 (GRCm39)	I4458V	probably benign	Het
Enpp1	T	A	10: 24,536,172 (GRCm39)	E409D	probably damaging	Het
Fam78b	G	T	1: 166,906,457 (GRCm39)	L205F	probably damaging	Het
Foxr2	C	A	X: 151,913,677 (GRCm39)	R183S	probably damaging	Het
Ganc	T	C	2: 120,264,129 (GRCm39)	S361P	probably damaging	Het
Gm8011	A	T	14: 42,287,957 (GRCm39)	D145V	unknown	Het
Gnb4	A	G	3: 32,639,372 (GRCm39)	V307A	probably benign	Het
Hdac4	A	T	1: 91,982,667 (GRCm39)	V17E	possibly damaging	Het
Herc6	G	A	6: 57,560,318 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,383 (GRCm39)	T1945A	probably benign	Het
Ica1l	A	T	1: 60,049,298 (GRCm39)	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,274,887 (GRCm39)	L1939Q	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,380,499 (GRCm39)	R117C	probably damaging	Het
Megf6	T	C	4: 154,338,234 (GRCm39)	S327P	probably damaging	Het
Mocos	T	G	18: 24,809,668 (GRCm39)	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014 (GRCm39)	W14R	probably benign	Het
Mysm1	A	T	4: 94,863,523 (GRCm39)	D23E	probably benign	Het
Naa35	T	A	13: 59,734,085 (GRCm39)	D34E	probably benign	Het
Nid1	A	G	13: 13,656,806 (GRCm39)	I646V	probably benign	Het
Nupr1	T	C	7: 126,224,073 (GRCm39)		probably benign	Het
Or2aj6	G	T	16: 19,443,051 (GRCm39)	H266Q	probably damaging	Het
Or5b24	A	T	19: 12,912,164 (GRCm39)	I21F	probably benign	Het
Or8b12b	T	G	9: 37,684,882 (GRCm39)	L309R	probably benign	Het
Pcbp2	A	C	15: 102,392,684 (GRCm39)		probably benign	Het
Pde8b	T	C	13: 95,232,156 (GRCm39)	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,289,291 (GRCm39)	Y703C	probably damaging	Het
Plxnb3	T	C	X: 72,808,889 (GRCm39)	S885P	probably benign	Het
Poc1b	T	A	10: 98,980,176 (GRCm39)	C136S	probably damaging	Het
Pole2	T	C	12: 69,256,649 (GRCm39)	D292G	probably damaging	Het
Prpf39	T	C	12: 65,089,553 (GRCm39)	V97A	probably benign	Het
Rbbp8	T	A	18: 11,838,869 (GRCm39)	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,532,188 (GRCm39)	T600M	possibly damaging	Het
Spata32	T	C	11: 103,099,629 (GRCm39)	Q292R	possibly damaging	Het
Sugp1	T	C	8: 70,523,758 (GRCm39)		probably benign	Het
Sult3a1	A	C	10: 33,753,269 (GRCm39)		probably benign	Het
Tpm3-rs7	C	T	14: 113,552,810 (GRCm39)	Q235*	probably null	Het
Trbv2	A	T	6: 41,024,685 (GRCm39)	T34S	possibly damaging	Het
Tssk6	A	G	8: 70,355,535 (GRCm39)	Y193C	probably benign	Het
Ttn	T	C	2: 76,538,802 (GRCm39)	K34676R	possibly damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,479,101 (GRCm39)	K1072E	possibly damaging	Het

Other mutations in Gfra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00800:Gfra4	APN	2	130,882,203 (GRCm39)	missense	possibly damaging	0.82
R0625:Gfra4	UTSW	2	130,882,176 (GRCm39)	missense	probably null	0.05
R2285:Gfra4	UTSW	2	130,883,651 (GRCm39)	missense	probably damaging	1.00
R7233:Gfra4	UTSW	2	130,883,037 (GRCm39)	missense	probably damaging	0.96
R9702:Gfra4	UTSW	2	130,884,539 (GRCm39)	missense	probably benign
R9787:Gfra4	UTSW	2	130,884,600 (GRCm39)	start codon destroyed	probably null	0.00

Posted On

2015-12-18