Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Gfra1'

379875

Institutional Source

Beutler Lab

Gene Symbol

Gfra1

Ensembl Gene

ENSMUSG00000025089

Gene Name

glial cell line derived neurotrophic factor family receptor alpha 1

Synonyms

GFR alpha-1, GDNFR-alpha

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58224036-58444341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58255522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 308 (S308R)

Ref Sequence

ENSEMBL: ENSMUSP00000130128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026076] [ENSMUST00000129100] [ENSMUST00000140141] [ENSMUST00000152507] [ENSMUST00000169850]

AlphaFold

P97785

Predicted Effect

probably damaging
Transcript: ENSMUST00000026076
AA Change: S308R

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

SMART Domains

Protein: ENSMUSP00000026076
Gene: ENSMUSG00000025089
AA Change: S308R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GDNF	29	111	1.96e-13	SMART
GDNF	154	233	6.55e-24	SMART
GDNF	243	337	1.62e-28	SMART
low complexity region	362	370	N/A	INTRINSIC
low complexity region	455	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129100
AA Change: S303R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117196
Gene: ENSMUSG00000025089
AA Change: S303R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GDNF	29	111	1.96e-13	SMART
GDNF	149	228	6.55e-24	SMART
GDNF	238	332	1.62e-28	SMART
low complexity region	357	365	N/A	INTRINSIC
low complexity region	450	460	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140141
AA Change: S308R

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

SMART Domains

Protein: ENSMUSP00000123022
Gene: ENSMUSG00000025089
AA Change: S308R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GDNF	29	111	1.96e-13	SMART
GDNF	154	233	6.55e-24	SMART
GDNF	243	337	1.62e-28	SMART
low complexity region	362	370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152507
AA Change: S308R

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

SMART Domains

Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
AA Change: S308R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GDNF	29	111	1.96e-13	SMART
GDNF	154	233	6.55e-24	SMART
GDNF	243	337	1.62e-28	SMART
low complexity region	362	370	N/A	INTRINSIC
low complexity region	455	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169850
AA Change: S308R

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

SMART Domains

Protein: ENSMUSP00000130128
Gene: ENSMUSG00000025089
AA Change: S308R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
GDNF	29	111	1.96e-13	SMART
GDNF	154	233	6.55e-24	SMART
GDNF	243	337	1.62e-28	SMART
low complexity region	362	370	N/A	INTRINSIC
low complexity region	455	465	N/A	INTRINSIC

Meta Mutation Damage Score

0.5256

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Gfra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Gfra1	APN	19	58,252,337 (GRCm39)	splice site	probably benign
IGL01633:Gfra1	APN	19	58,255,479 (GRCm39)	missense	probably benign	0.41
IGL02675:Gfra1	APN	19	58,441,787 (GRCm39)	missense	probably damaging	1.00
IGL02676:Gfra1	APN	19	58,441,787 (GRCm39)	missense	probably damaging	1.00
IGL02677:Gfra1	APN	19	58,441,787 (GRCm39)	missense	probably damaging	1.00
IGL02723:Gfra1	APN	19	58,441,683 (GRCm39)	missense	probably benign	0.00
3-1:Gfra1	UTSW	19	58,286,999 (GRCm39)	intron	probably benign
R0245:Gfra1	UTSW	19	58,288,986 (GRCm39)	missense	possibly damaging	0.72
R0652:Gfra1	UTSW	19	58,288,986 (GRCm39)	missense	possibly damaging	0.72
R0697:Gfra1	UTSW	19	58,258,555 (GRCm39)	missense	probably benign
R0699:Gfra1	UTSW	19	58,258,555 (GRCm39)	missense	probably benign
R1344:Gfra1	UTSW	19	58,226,849 (GRCm39)	missense	possibly damaging	0.88
R1418:Gfra1	UTSW	19	58,226,849 (GRCm39)	missense	possibly damaging	0.88
R1468:Gfra1	UTSW	19	58,440,407 (GRCm39)	missense	probably benign	0.00
R1468:Gfra1	UTSW	19	58,440,407 (GRCm39)	missense	probably benign	0.00
R2001:Gfra1	UTSW	19	58,288,707 (GRCm39)	missense	probably damaging	1.00
R2866:Gfra1	UTSW	19	58,227,739 (GRCm39)	missense	possibly damaging	0.93
R3416:Gfra1	UTSW	19	58,255,544 (GRCm39)	missense	probably damaging	1.00
R4352:Gfra1	UTSW	19	58,255,456 (GRCm39)	missense	probably benign	0.08
R4564:Gfra1	UTSW	19	58,227,682 (GRCm39)	splice site	probably null
R4727:Gfra1	UTSW	19	58,252,386 (GRCm39)	missense	probably damaging	0.96
R4755:Gfra1	UTSW	19	58,441,676 (GRCm39)	missense	probably damaging	1.00
R4915:Gfra1	UTSW	19	58,255,522 (GRCm39)	missense	probably damaging	1.00
R4917:Gfra1	UTSW	19	58,255,522 (GRCm39)	missense	probably damaging	1.00
R5813:Gfra1	UTSW	19	58,227,687 (GRCm39)	missense	probably benign
R6225:Gfra1	UTSW	19	58,226,830 (GRCm39)	missense	probably damaging	1.00
R7023:Gfra1	UTSW	19	58,442,764 (GRCm39)	missense	probably damaging	1.00
R7485:Gfra1	UTSW	19	58,288,744 (GRCm39)	missense	probably damaging	1.00
R7624:Gfra1	UTSW	19	58,226,878 (GRCm39)	missense	probably benign
R7718:Gfra1	UTSW	19	58,441,889 (GRCm39)	missense	possibly damaging	0.69
R9659:Gfra1	UTSW	19	58,441,652 (GRCm39)	missense	probably damaging	1.00
R9788:Gfra1	UTSW	19	58,441,652 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTGTCACTGAGCATACC -3'
(R):5'- AACCATGGCGTTTGTGACTAG -3'

Sequencing Primer
(F):5'- GCTGTGTCACTGAGCATACCAAAAG -3'
(R):5'- AGCTGTGACATTTCTACTGTCAGAGC -3'

Posted On

2016-04-15