Mutagenetix > Incidental Mutation

Incidental Mutation 'R9073:Gfra2'

692902

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

Accession Numbers

Essential gene?

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

Stock #

R9073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71127560-71217278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71138935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 121 (E121G)

Ref Sequence

ENSEMBL: ENSMUSP00000022699 (fasta)

Gene Model

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

AlphaFold

O08842

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022699
AA Change: E121G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: E121G

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 benign
Transcript: ENSMUST00000227697

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Clasp1	C	A	1: 118,390,193 (GRCm39)		probably null	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,323,688 (GRCm39)	R481*	probably null	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Git1	G	A	11: 77,389,901 (GRCm39)	A55T	probably benign	Het
Gm12887	G	T	4: 121,479,238 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,852,934 (GRCm39)	R682H	probably damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Rad51b	T	G	12: 79,344,439 (GRCm39)		probably benign	Het
Rgs12	A	T	5: 35,177,753 (GRCm39)		probably benign	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Ticrr	T	A	7: 79,317,679 (GRCm39)	D404E	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Tpbg	A	T	9: 85,724,924 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,193,676 (GRCm39)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	possibly 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
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
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
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'- GTCTCTACAAAATGAGCTCTCACC -3'
(R):5'- ACCACACGGCTTCTGAGAAG -3'

Sequencing Primer
(F):5'- AAATGAGCTCTCACCCCTACCTTG -3'
(R):5'- CTAAAGCTCAAAATATGGTGAGGAGC -3'

Posted On

2021-12-30