Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Ret'

21364

Institutional Source

Beutler Lab

Gene Symbol

Ret

Ensembl Gene

ENSMUSG00000030110

Gene Name

ret proto-oncogene

Synonyms

RET9, c-Ret, RET51

MMRRC Submission

038411-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R0126 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118128706-118174679 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 118142956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086169 (fasta)

Gene Model

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

AlphaFold

P35546

Predicted Effect

probably benign
Transcript: ENSMUST00000032201

SMART Domains

Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110

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

SMART Domains

Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110

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: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
Ano4	T	A	10: 88,788,154 (GRCm39)	I753F	possibly damaging	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Degs1	T	C	1: 182,107,257 (GRCm39)	M1V	probably null	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prdm16	A	T	4: 154,413,295 (GRCm39)		probably benign	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Snap47	A	G	11: 59,328,813 (GRCm39)	V163A	probably damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tbx18	T	A	9: 87,611,706 (GRCm39)	D108V	possibly damaging	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	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
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
R6457:Ret	UTSW	6	118,150,582 (GRCm39)	missense	probably benign	0.01
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'- AGCCAAGCTGCTGAGACAAGAC -3'
(R):5'- TCCAGAGCTAGGCTAAAGGGTATGG -3'

Sequencing Primer
(F):5'- TGAGACAAGACATCATGGCCC -3'
(R):5'- GCTAAAGGGTATGGCTACCTTG -3'

Posted On

2013-04-11