Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Ret'

101298

Institutional Source

Beutler Lab

Gene Symbol

Ret

Ensembl Gene

ENSMUSG00000030110

Gene Name

ret proto-oncogene

Synonyms

c-Ret, RET9, RET51

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118151745-118197718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118173558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 666 (H666N)

Ref Sequence

ENSEMBL: ENSMUSP00000086169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032201] [ENSMUST00000088790]

AlphaFold

P35546

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032201
AA Change: H666N

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110
AA Change: H666N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	191	271	1.11e-1	SMART
low complexity region	638	656	N/A	INTRINSIC
TyrKc	725	1006	3.58e-148	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088790
AA Change: H666N

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110
AA Change: H666N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	191	271	1.11e-1	SMART
low complexity region	638	656	N/A	INTRINSIC
TyrKc	725	1006	3.58e-148	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some point mutations or knock-out alleles exhibit premature lethality, defects in neurogenesis, and abnormal kidney, ureter, ovary, muscle, and intestine morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	Het

Other mutations in Ret

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Ret	APN	6	118175120	splice site	probably null
IGL02445:Ret	APN	6	118181899	missense	probably damaging	0.98
IGL02754:Ret	APN	6	118176252	missense	probably benign	0.03
IGL02828:Ret	APN	6	118176207	missense	probably benign	0.00
IGL03058:Ret	APN	6	118175067	missense	probably damaging	1.00
PIT4151001:Ret	UTSW	6	118164741	missense	probably benign	0.04
R0126:Ret	UTSW	6	118165995	splice site	probably benign
R0555:Ret	UTSW	6	118178610	missense	probably damaging	0.96
R1829:Ret	UTSW	6	118153951	missense	probably damaging	0.99
R2020:Ret	UTSW	6	118180382	missense	possibly damaging	0.63
R4082:Ret	UTSW	6	118153966	missense	possibly damaging	0.81
R4732:Ret	UTSW	6	118163193	missense	possibly damaging	0.77
R4733:Ret	UTSW	6	118163193	missense	possibly damaging	0.77
R5356:Ret	UTSW	6	118197118	missense	possibly damaging	0.73
R5401:Ret	UTSW	6	118181975	missense	probably benign	0.05
R5572:Ret	UTSW	6	118155431	missense	probably damaging	1.00
R5669:Ret	UTSW	6	118184243	missense	probably benign
R6058:Ret	UTSW	6	118179319	missense	probably benign
R6087:Ret	UTSW	6	118176291	missense	possibly damaging	0.53
R6412:Ret	UTSW	6	118184284	missense	probably benign	0.00
R6457:Ret	UTSW	6	118173621	missense	probably benign	0.01
R6884:Ret	UTSW	6	118155401	missense	probably damaging	1.00
R7035:Ret	UTSW	6	118163286	missense	probably damaging	1.00
R7112:Ret	UTSW	6	118197102	missense	possibly damaging	0.96
R7841:Ret	UTSW	6	118155360	missense	probably damaging	1.00
R7947:Ret	UTSW	6	118174344	missense	probably benign	0.32
R8539:Ret	UTSW	6	118175809	missense	possibly damaging	0.60
R8556:Ret	UTSW	6	118169188	missense	probably damaging	1.00
R8742:Ret	UTSW	6	118178523	missense	probably damaging	0.99
R8904:Ret	UTSW	6	118180213	splice site	probably benign
R9051:Ret	UTSW	6	118165927	nonsense	probably null
R9323:Ret	UTSW	6	118182014	missense	probably benign	0.00
R9661:Ret	UTSW	6	118173476	missense	probably benign
R9674:Ret	UTSW	6	118153869	missense	probably damaging	1.00
Z1176:Ret	UTSW	6	118163207	missense	probably damaging	1.00
Z1177:Ret	UTSW	6	118153890	missense	probably benign	0.40

Predicted Primers

Posted On

2014-01-15