Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Ret'

516524

Institutional Source

Beutler Lab

Gene Symbol

Ret

Ensembl Gene

ENSMUSG00000030110

Gene Name

ret proto-oncogene

Synonyms

RET9, c-Ret, RET51

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R6457 (G1)

Quality Score

113.008

Status

Validated

Chromosome

Chromosomal Location

118128706-118174679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118150582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 645 (F645L)

Ref Sequence

ENSEMBL: ENSMUSP00000086169 (fasta)

Gene Model

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

AlphaFold

P35546

Predicted Effect

probably benign
Transcript: ENSMUST00000032201
AA Change: F645L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110
AA Change: F645L

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

probably benign
Transcript: ENSMUST00000088790
AA Change: F645L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110
AA Change: F645L

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Actn3	T	C	19: 4,921,876 (GRCm39)	D130G	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Cox18	A	G	5: 90,371,548 (GRCm39)	I84T	probably benign	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Hcn2	G	T	10: 79,569,607 (GRCm39)	E536*	probably null	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Saxo5	T	C	8: 3,529,268 (GRCm39)	L251P	probably damaging	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Uvrag	A	G	7: 98,555,726 (GRCm39)	F456S	probably damaging	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	probably damaging	Het

Other mutations in Ret

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Ret	APN	6	118,152,081 (GRCm39)	splice site	probably null
IGL02445:Ret	APN	6	118,158,860 (GRCm39)	missense	probably damaging	0.98
IGL02754:Ret	APN	6	118,153,213 (GRCm39)	missense	probably benign	0.03
IGL02828:Ret	APN	6	118,153,168 (GRCm39)	missense	probably benign	0.00
IGL03058:Ret	APN	6	118,152,028 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Ret	UTSW	6	118,141,702 (GRCm39)	missense	probably benign	0.04
R0126:Ret	UTSW	6	118,142,956 (GRCm39)	splice site	probably benign
R0555:Ret	UTSW	6	118,155,571 (GRCm39)	missense	probably damaging	0.96
R1168:Ret	UTSW	6	118,150,519 (GRCm39)	missense	possibly damaging	0.94
R1829:Ret	UTSW	6	118,130,912 (GRCm39)	missense	probably damaging	0.99
R2020:Ret	UTSW	6	118,157,343 (GRCm39)	missense	possibly damaging	0.63
R4082:Ret	UTSW	6	118,130,927 (GRCm39)	missense	possibly damaging	0.81
R4732:Ret	UTSW	6	118,140,154 (GRCm39)	missense	possibly damaging	0.77
R4733:Ret	UTSW	6	118,140,154 (GRCm39)	missense	possibly damaging	0.77
R5356:Ret	UTSW	6	118,174,079 (GRCm39)	missense	possibly damaging	0.73
R5401:Ret	UTSW	6	118,158,936 (GRCm39)	missense	probably benign	0.05
R5572:Ret	UTSW	6	118,132,392 (GRCm39)	missense	probably damaging	1.00
R5669:Ret	UTSW	6	118,161,204 (GRCm39)	missense	probably benign
R6058:Ret	UTSW	6	118,156,280 (GRCm39)	missense	probably benign
R6087:Ret	UTSW	6	118,153,252 (GRCm39)	missense	possibly damaging	0.53
R6412:Ret	UTSW	6	118,161,245 (GRCm39)	missense	probably benign	0.00
R6884:Ret	UTSW	6	118,132,362 (GRCm39)	missense	probably damaging	1.00
R7035:Ret	UTSW	6	118,140,247 (GRCm39)	missense	probably damaging	1.00
R7112:Ret	UTSW	6	118,174,063 (GRCm39)	missense	possibly damaging	0.96
R7841:Ret	UTSW	6	118,132,321 (GRCm39)	missense	probably damaging	1.00
R7947:Ret	UTSW	6	118,151,305 (GRCm39)	missense	probably benign	0.32
R8539:Ret	UTSW	6	118,152,770 (GRCm39)	missense	possibly damaging	0.60
R8556:Ret	UTSW	6	118,146,149 (GRCm39)	missense	probably damaging	1.00
R8742:Ret	UTSW	6	118,155,484 (GRCm39)	missense	probably damaging	0.99
R8904:Ret	UTSW	6	118,157,174 (GRCm39)	splice site	probably benign
R9051:Ret	UTSW	6	118,142,888 (GRCm39)	nonsense	probably null
R9323:Ret	UTSW	6	118,158,975 (GRCm39)	missense	probably benign	0.00
R9661:Ret	UTSW	6	118,150,437 (GRCm39)	missense	probably benign
R9674:Ret	UTSW	6	118,130,830 (GRCm39)	missense	probably damaging	1.00
Z1176:Ret	UTSW	6	118,140,168 (GRCm39)	missense	probably damaging	1.00
Z1177:Ret	UTSW	6	118,130,851 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TCTCCGTGGAATCCAGTGAG -3'
(R):5'- AACAGTATAGCTGGTGTGGCTG -3'

Sequencing Primer
(F):5'- TGGAATCCAGTGAGGGCCG -3'
(R):5'- CAGTGTGTGCAGTCTTCAAATCAG -3'

Posted On

2018-05-21