Mutagenetix > Incidental Mutation

Incidental Mutation 'R8831:Gfra2'

673860

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

068659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R8831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71127560-71217278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71204503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 324 (N324I)

Ref Sequence

ENSEMBL: ENSMUSP00000022699 (fasta)

Gene Model

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

AlphaFold

O08842

Predicted Effect

probably benign
Transcript: ENSMUST00000022699
AA Change: N324I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: N324I

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: ENSMUST00000227633
AA Change: N67I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000227697
AA Change: N191I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Abcg5	G	T	17: 84,976,423 (GRCm39)	H471Q	probably damaging	Het
Actl6b	G	A	5: 137,565,305 (GRCm39)	R363Q	probably damaging	Het
Adcy1	T	A	11: 7,111,362 (GRCm39)	D884E	probably benign	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,748,521 (GRCm39)	L14P	probably benign	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Cd300c2	A	T	11: 114,891,844 (GRCm39)	C39*	probably null	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cplane1	T	C	15: 8,211,620 (GRCm39)	I320T	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Defb25	C	A	2: 152,464,899 (GRCm39)	V17L	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dhx30	A	G	9: 109,917,319 (GRCm39)	S399P	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Ercc6	T	A	14: 32,282,784 (GRCm39)		probably null	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fgf10	A	G	13: 118,925,671 (GRCm39)	D150G	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm10308	A	G	17: 91,396,431 (GRCm39)	R118G	unknown	Het
Gm10801	T	A	2: 98,494,334 (GRCm39)	V137E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Il6st	G	T	13: 112,640,914 (GRCm39)	D897Y	probably damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Kidins220	A	T	12: 25,086,454 (GRCm39)	I963L	possibly damaging	Het
Mdm4	T	C	1: 132,931,601 (GRCm39)	R148G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Necab3	A	T	2: 154,396,607 (GRCm39)	L107Q	probably damaging	Het
Nkx2-4	G	A	2: 146,927,114 (GRCm39)	P51L	probably benign	Het
Nol11	T	C	11: 107,067,662 (GRCm39)	T388A	probably benign	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Nr1h3	C	A	2: 91,021,091 (GRCm39)	R232L	probably benign	Het
Nrcam	T	A	12: 44,591,680 (GRCm39)		probably null	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or52s1b	T	A	7: 102,822,203 (GRCm39)	I214L	probably benign	Het
Pabpn1	T	C	14: 55,131,914 (GRCm39)	V101A	probably damaging	Het
Pcare	A	T	17: 72,059,305 (GRCm39)	V124E	probably benign	Het
Pcbp2	A	G	15: 102,394,453 (GRCm39)	D217G	probably benign	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Plcg1	G	C	2: 160,589,732 (GRCm39)	K85N	probably benign	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Prmt3	A	G	7: 49,478,729 (GRCm39)	E430G	probably null	Het
Prx	G	T	7: 27,217,538 (GRCm39)	V819F	probably damaging	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rgs2	T	C	1: 143,877,497 (GRCm39)	Y186C	probably damaging	Het
Rhbdl1	C	T	17: 26,053,857 (GRCm39)	V342M	probably damaging	Het
Rpn1	A	G	6: 88,061,775 (GRCm39)	Q88R	probably benign	Het
Slc19a2	C	T	1: 164,084,443 (GRCm39)	T111M	probably damaging	Het
Slc35e4	G	A	11: 3,863,087 (GRCm39)	P34L	possibly damaging	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Susd1	C	T	4: 59,379,594 (GRCm39)		probably benign	Het
Tcf19	A	T	17: 35,825,794 (GRCm39)	M121K	possibly damaging	Het
Tcp11	G	A	17: 28,299,193 (GRCm39)	R21C	probably damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem127	T	A	2: 127,098,979 (GRCm39)	V171D	probably damaging	Het
Tyrp1	G	A	4: 80,753,399 (GRCm39)	C30Y	probably damaging	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vamp4	T	A	1: 162,401,952 (GRCm39)	D11E	possibly damaging	Het
Vmn1r14	T	C	6: 57,210,505 (GRCm39)	F28L	probably benign	Het
Vmn2r69	G	T	7: 85,059,018 (GRCm39)	C514*	probably null	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zhx3	T	A	2: 160,622,691 (GRCm39)	Y492F	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
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'- CCAGAGGTAAATGTGCTCAGAG -3'
(R):5'- AGCCACATAGGTATCACTGGC -3'

Sequencing Primer
(F):5'- AATGTGCTCAGAGTTAGGATTGTAAG -3'
(R):5'- TAGGTATCACTGGCCATCCTAAC -3'

Posted On

2021-07-15