Mutagenetix > Incidental Mutation

Incidental Mutation 'R7947:Ret'

649400

Institutional Source

Beutler Lab

Gene Symbol

Ret

Ensembl Gene

ENSMUSG00000030110

Gene Name

ret proto-oncogene

Synonyms

RET9, c-Ret, RET51

MMRRC Submission

045992-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118128706-118174679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118151305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 593 (V593A)

Ref Sequence

ENSEMBL: ENSMUSP00000032201 (fasta)

Gene Model

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

AlphaFold

P35546

PDB Structure

Crystal Structure of Dok1 PTB Domain Complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000032201
AA Change: V593A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110
AA Change: V593A

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: V593A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110
AA Change: V593A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,938 (GRCm39)	T51A	probably benign	Het
Abcc8	A	G	7: 45,754,886 (GRCm39)		probably null	Het
Accs	A	T	2: 93,674,602 (GRCm39)	M123K	probably damaging	Het
Ace	G	A	11: 105,863,880 (GRCm39)	G443S	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arhgap25	T	C	6: 87,440,069 (GRCm39)	D526G	probably benign	Het
Arhgef18	T	C	8: 3,482,775 (GRCm39)	L160P	probably damaging	Het
Arnt	T	G	3: 95,381,837 (GRCm39)		probably null	Het
Art3	A	G	5: 92,540,359 (GRCm39)	N34S	possibly damaging	Het
Avl9	A	T	6: 56,700,526 (GRCm39)	E53D	possibly damaging	Het
AW209491	A	T	13: 14,811,447 (GRCm39)	E100V	probably benign	Het
Axin2	T	C	11: 108,814,529 (GRCm39)	I139T	probably damaging	Het
Birc7	G	T	2: 180,575,103 (GRCm39)	V280L	probably damaging	Het
Bmal1	T	C	7: 112,886,353 (GRCm39)	Y137H	probably damaging	Het
C1ra	A	G	6: 124,494,338 (GRCm39)	N262D	probably benign	Het
Cacna1g	A	G	11: 94,348,001 (GRCm39)	F696L	probably benign	Het
Casp14	T	A	10: 78,550,079 (GRCm39)		probably null	Het
Ciao2a	A	G	9: 66,045,684 (GRCm39)	I151V	probably benign	Het
Crlf1	T	C	8: 70,951,862 (GRCm39)	Y176H	probably damaging	Het
Dnajb4	A	T	3: 151,892,468 (GRCm39)	S122T	probably benign	Het
Dthd1	G	A	5: 62,971,653 (GRCm39)	D159N	possibly damaging	Het
Erich6	A	T	3: 58,528,699 (GRCm39)	I517N	possibly damaging	Het
Fam118b	T	A	9: 35,129,239 (GRCm39)	H343L	probably benign	Het
Fat2	T	A	11: 55,178,560 (GRCm39)	D1500V	probably damaging	Het
Fcgbp	T	C	7: 27,803,595 (GRCm39)		probably null	Het
Fgfrl1	A	G	5: 108,853,142 (GRCm39)	D255G	probably damaging	Het
Gm9611	G	A	14: 42,118,087 (GRCm39)	Q82*	probably null	Het
Ifit3	G	T	19: 34,565,359 (GRCm39)	E302*	probably null	Het
Igkv3-9	G	A	6: 70,565,737 (GRCm39)	C112Y	probably damaging	Het
Ints4	A	G	7: 97,148,792 (GRCm39)	T233A	probably benign	Het
Khnyn	A	T	14: 56,125,059 (GRCm39)	S438C	probably damaging	Het
Kifc1	T	C	17: 34,102,849 (GRCm39)	R192G	probably benign	Het
Kntc1	T	C	5: 123,919,951 (GRCm39)	S98P	unknown	Het
Krt1c	A	T	15: 101,724,769 (GRCm39)	D280E	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,295,200 (GRCm39)	I5344V	probably damaging	Het
Mcf2l	A	T	8: 13,053,529 (GRCm39)		probably null	Het
Mms22l	A	C	4: 24,505,373 (GRCm39)	H211P	probably damaging	Het
Nipsnap1	A	G	11: 4,839,145 (GRCm39)	R163G	possibly damaging	Het
Nusap1	A	G	2: 119,477,616 (GRCm39)	N375S	possibly damaging	Het
Or51t4	A	G	7: 102,598,278 (GRCm39)	Y202C	probably damaging	Het
Or52e19b	A	T	7: 103,032,735 (GRCm39)	V158D	possibly damaging	Het
Or8g17	A	G	9: 38,930,747 (GRCm39)	L30P	probably damaging	Het
Phf14	G	A	6: 11,933,306 (GRCm39)	G56D	unknown	Het
Phykpl	G	A	11: 51,477,408 (GRCm39)	V67M	probably damaging	Het
Pigk	A	G	3: 152,453,404 (GRCm39)	D374G	probably benign	Het
Pirb	A	G	7: 3,722,857 (GRCm39)	V45A	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Rb1cc1	T	C	1: 6,318,786 (GRCm39)	V735A	probably damaging	Het
Rcor2	A	G	19: 7,251,225 (GRCm39)	T333A	possibly damaging	Het
Scgb1b10	A	T	7: 31,800,570 (GRCm39)	D53V	probably damaging	Het
Sec61a2	G	A	2: 5,881,794 (GRCm39)	A212V	probably damaging	Het
Sgpl1	A	T	10: 60,942,121 (GRCm39)	F245I	probably damaging	Het
Sh2d4b	A	C	14: 40,542,723 (GRCm39)	V351G	probably damaging	Het
Shld2	C	T	14: 33,990,436 (GRCm39)	V157I	probably benign	Het
Slc22a1	T	A	17: 12,871,310 (GRCm39)	M484L	probably benign	Het
Slit1	C	G	19: 41,599,247 (GRCm39)	G1066R	probably damaging	Het
Slit1	A	T	19: 41,599,248 (GRCm39)	D1065E	probably benign	Het
Spg11	G	A	2: 121,922,803 (GRCm39)	A882V	probably damaging	Het
Stab2	A	C	10: 86,681,897 (GRCm39)	F2501L	probably benign	Het
Stim2	A	T	5: 54,275,671 (GRCm39)	K607N	probably damaging	Het
Syde1	C	T	10: 78,425,916 (GRCm39)	V84M	probably damaging	Het
Tepsin	A	T	11: 119,985,061 (GRCm39)	N202K	probably benign	Het
Tmem207	T	A	16: 26,335,495 (GRCm39)	I81F	possibly damaging	Het
Tnc	C	A	4: 63,935,580 (GRCm39)	G452V	probably damaging	Het
Tshz1	G	T	18: 84,033,782 (GRCm39)	Q209K	probably damaging	Het
Ttn	A	T	2: 76,773,696 (GRCm39)	N2308K	unknown	Het
Zfp266	A	G	9: 20,410,548 (GRCm39)	I543T	probably benign	Het
Zfp777	G	T	6: 48,001,645 (GRCm39)	P815Q	probably damaging	Het
Zhx3	A	G	2: 160,623,015 (GRCm39)	I384T	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
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
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'- TGCTCAGAACTCCCTTGAGG -3'
(R):5'- ATGTCTTCTGGGACCTTAGCAATG -3'

Sequencing Primer
(F):5'- CCTTGAGGGTTAGGGGAGG -3'
(R):5'- CTGGGACCTTAGCAATGACTCTGAG -3'

Posted On

2020-09-15