Incidental Mutation 'R4733:Ret'
ID 470390
Institutional Source Beutler Lab
Gene Symbol Ret
Ensembl Gene ENSMUSG00000030110
Gene Name ret proto-oncogene
Synonyms RET9, c-Ret, RET51
MMRRC Submission 042023-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R4733 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118128706-118174679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118140154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1013 (S1013G)
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: S1013G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110
AA Change: S1013G

DomainStartEndE-ValueType
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: S1013G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110
AA Change: S1013G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 180 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,174 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,445,065 (GRCm39) probably benign Het
Acan T C 7: 78,748,357 (GRCm39) S1043P probably damaging Het
Ackr2 A G 9: 121,738,249 (GRCm39) Y208C probably damaging Het
Actmap T A 7: 26,900,468 (GRCm39) M149K probably damaging Het
Adam1a T A 5: 121,657,497 (GRCm39) T599S probably benign Het
Adamts12 A T 15: 11,270,748 (GRCm39) S668C probably damaging Het
Adcy8 A G 15: 64,626,711 (GRCm39) V709A possibly damaging Het
Adgrf2 A C 17: 43,021,645 (GRCm39) I393S probably damaging Het
Ahnak G T 19: 8,984,665 (GRCm39) G1983V probably damaging Het
Aim2 T A 1: 173,291,442 (GRCm39) D282E possibly damaging Het
Ak8 A G 2: 28,650,083 (GRCm39) Y370C probably damaging Het
Akap9 A G 5: 4,063,901 (GRCm39) D1750G probably damaging Het
Als2cl T A 9: 110,718,204 (GRCm39) V315E probably damaging Het
Ankrd28 A C 14: 31,477,698 (GRCm39) C115G probably benign Het
Ap3b2 C T 7: 81,121,680 (GRCm39) A519T probably damaging Het
Apool C T X: 111,281,897 (GRCm39) T166I probably damaging Het
Arhgef2 A T 3: 88,539,247 (GRCm39) K65* probably null Het
Arhgef38 G T 3: 132,838,030 (GRCm39) Y633* probably null Het
Asah2 T C 19: 31,972,758 (GRCm39) N659S probably benign Het
Atf7ip2 A G 16: 10,059,750 (GRCm39) D430G possibly damaging Het
Atp8a1 G A 5: 67,970,463 (GRCm39) S92L probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
C130073F10Rik C A 4: 101,747,907 (GRCm39) S89I probably benign Het
Cacna1g T C 11: 94,334,041 (GRCm39) T867A probably damaging Het
Ccdc88a T G 11: 29,435,906 (GRCm39) N1276K probably benign Het
Cdc42bpg T A 19: 6,361,221 (GRCm39) V282E probably damaging Het
Cdipt T A 7: 126,577,530 (GRCm39) L92H probably damaging Het
Celsr2 T A 3: 108,306,268 (GRCm39) D2012V probably damaging Het
Cenpt A G 8: 106,573,768 (GRCm39) V254A probably benign Het
Cep104 T A 4: 154,072,883 (GRCm39) D380E probably damaging Het
Cers5 C T 15: 99,639,518 (GRCm39) R123Q probably benign Het
Ces2h A G 8: 105,741,236 (GRCm39) E76G probably damaging Het
Cfap77 T A 2: 28,874,400 (GRCm39) E143D probably benign Het
Chmp7 C A 14: 69,969,745 (GRCm39) R65L probably damaging Het
Cldnd2 T A 7: 43,091,613 (GRCm39) C65S possibly damaging Het
Clec2g C A 6: 128,958,842 (GRCm39) Y142* probably null Het
Coch A T 12: 51,651,802 (GRCm39) E549V probably benign Het
Cog7 T C 7: 121,563,467 (GRCm39) D215G probably benign Het
Col4a2 A G 8: 11,496,197 (GRCm39) H1606R probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Cpd T C 11: 76,702,620 (GRCm39) N583D probably damaging Het
Cyp2d11 T A 15: 82,273,428 (GRCm39) Y481F probably benign Het
D130043K22Rik T C 13: 25,083,648 (GRCm39) S1038P probably damaging Het
Deptor C A 15: 55,044,406 (GRCm39) H191N probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dnah12 C T 14: 26,503,741 (GRCm39) T1653I probably damaging Het
Dnah7c T A 1: 46,809,333 (GRCm39) N3550K probably damaging Het
Dnah8 A G 17: 30,994,035 (GRCm39) K3384R probably null Het
Dnhd1 C A 7: 105,323,056 (GRCm39) N521K probably benign Het
Drg2 T C 11: 60,352,222 (GRCm39) probably null Het
Dync1h1 C T 12: 110,615,941 (GRCm39) Q3030* probably null Het
Efhb G A 17: 53,733,272 (GRCm39) T533I probably damaging Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Etfb T C 7: 43,093,624 (GRCm39) V17A probably damaging Het
F5 C T 1: 164,009,226 (GRCm39) T332M probably damaging Het
Fcho1 T C 8: 72,169,439 (GRCm39) T156A probably benign Het
Fn1 A T 1: 71,641,671 (GRCm39) probably null Het
Fnip2 A T 3: 79,388,959 (GRCm39) S561T probably damaging Het
Frs2 T A 10: 116,909,998 (GRCm39) T455S probably benign Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Fto T A 8: 92,136,342 (GRCm39) D205E probably damaging Het
Galntl6 G A 8: 58,880,847 (GRCm39) P147L probably damaging Het
Gigyf1 T A 5: 137,523,032 (GRCm39) D844E probably benign Het
Gle1 T C 2: 29,830,244 (GRCm39) S267P probably damaging Het
Glg1 G A 8: 111,914,387 (GRCm39) R466W probably damaging Het
Gm10277 T C 11: 77,676,923 (GRCm39) probably benign Het
Gm6871 T C 7: 41,196,173 (GRCm39) I39V probably benign Het
Gpr35 T G 1: 92,911,107 (GRCm39) I57S probably damaging Het
Gprin1 C T 13: 54,887,770 (GRCm39) G168E possibly damaging Het
Gtf3c2 G T 5: 31,317,401 (GRCm39) P586T probably damaging Het
Gucy1a2 A T 9: 3,759,424 (GRCm39) H410L probably benign Het
Gucy2c A G 6: 136,744,150 (GRCm39) S150P probably damaging Het
Ifi214 T C 1: 173,354,157 (GRCm39) Q171R probably benign Het
Igkv4-50 T C 6: 69,677,984 (GRCm39) K40R probably benign Het
Igkv8-18 T A 6: 70,333,280 (GRCm39) I74N probably damaging Het
Il2ra T A 2: 11,681,731 (GRCm39) M112K probably benign Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kbtbd7 T C 14: 79,666,240 (GRCm39) *691Q probably null Het
Kcnn2 T A 18: 45,693,416 (GRCm39) S331T possibly damaging Het
Khnyn T A 14: 56,123,946 (GRCm39) probably null Het
Kif26a G A 12: 112,142,007 (GRCm39) A754T probably benign Het
Klra3 T A 6: 130,304,095 (GRCm39) Y199F possibly damaging Het
Lhx2 A G 2: 38,250,003 (GRCm39) K274R probably damaging Het
Lrp2 T C 2: 69,363,899 (GRCm39) I313V probably benign Het
Lrrfip1 A T 1: 91,043,369 (GRCm39) E591D probably benign Het
Lrrk2 G A 15: 91,649,950 (GRCm39) E1696K probably damaging Het
Lrrk2 A C 15: 91,573,052 (GRCm39) E200A probably damaging Het
Mast4 A T 13: 102,909,080 (GRCm39) M465K probably damaging Het
Moxd2 T G 6: 40,855,793 (GRCm39) I599L probably benign Het
Mug2 T C 6: 122,048,831 (GRCm39) S866P probably damaging Het
Ncam2 A G 16: 81,231,772 (GRCm39) T79A possibly damaging Het
Ncoa6 C A 2: 155,263,221 (GRCm39) Q404H probably damaging Het
Neb A G 2: 52,169,091 (GRCm39) Y1815H probably damaging Het
Nell1 A G 7: 50,505,965 (GRCm39) D724G probably damaging Het
Nkx3-2 A G 5: 41,919,487 (GRCm39) V167A probably benign Het
Nsun3 C A 16: 62,555,482 (GRCm39) C348F possibly damaging Het
Obox6 A T 7: 15,568,697 (GRCm39) S60T possibly damaging Het
Or10g9b A T 9: 39,917,564 (GRCm39) I227N probably damaging Het
Or11g2 T A 14: 50,856,026 (GRCm39) C116S probably benign Het
Or1ad6 G A 11: 50,860,093 (GRCm39) V83M possibly damaging Het
Or1e16 T C 11: 73,286,521 (GRCm39) D109G probably benign Het
Or2i1 T C 17: 37,507,915 (GRCm39) T315A probably damaging Het
Or2n1e T A 17: 38,586,438 (GRCm39) Y259N probably damaging Het
Or9s18 T C 13: 65,300,467 (GRCm39) V143A possibly damaging Het
Pabpc1 A T 15: 36,599,528 (GRCm39) V389E probably benign Het
Pank4 A T 4: 155,055,847 (GRCm39) M291L probably benign Het
Pcf11 T C 7: 92,308,041 (GRCm39) D709G probably benign Het
Pcgf1 T A 6: 83,056,938 (GRCm39) probably benign Het
Pcnx1 A G 12: 82,042,525 (GRCm39) I2256V probably benign Het
Pex6 A G 17: 47,033,214 (GRCm39) D579G probably benign Het
Pex6 A G 17: 47,035,633 (GRCm39) probably null Het
Piezo2 C T 18: 63,163,472 (GRCm39) A2149T probably damaging Het
Pik3c2g A G 6: 139,881,711 (GRCm39) E781G probably benign Het
Pik3r4 G A 9: 105,555,375 (GRCm39) V1111I possibly damaging Het
Pkd1l2 T A 8: 117,722,581 (GRCm39) probably null Het
Plekhg1 T A 10: 3,907,506 (GRCm39) S808T probably benign Het
Polr3c A T 3: 96,630,977 (GRCm39) F148I probably damaging Het
Ppard A T 17: 28,505,417 (GRCm39) T35S probably benign Het
Ptov1 T C 7: 44,516,533 (GRCm39) D134G probably benign Het
Ptprz1 T A 6: 23,002,609 (GRCm39) S1566R probably benign Het
Pum1 T C 4: 130,445,504 (GRCm39) S158P probably benign Het
Qki T C 17: 10,435,217 (GRCm39) H269R probably damaging Het
Qrsl1 T C 10: 43,752,659 (GRCm39) Y388C probably damaging Het
Rapgef1 T G 2: 29,579,172 (GRCm39) I182S probably damaging Het
Rimbp3 A G 16: 17,028,465 (GRCm39) R630G possibly damaging Het
Ryr2 A T 13: 11,592,795 (GRCm39) M4653K possibly damaging Het
Sacm1l G A 9: 123,419,895 (GRCm39) V553I probably benign Het
Sec31b A T 19: 44,521,116 (GRCm39) S110T probably damaging Het
Serpina3k G A 12: 104,307,119 (GRCm39) G117D probably damaging Het
Sesn2 T C 4: 132,221,902 (GRCm39) Y410C probably damaging Het
Slc24a1 G A 9: 64,856,836 (GRCm39) R24C probably benign Het
Slc35g2 A C 9: 100,434,555 (GRCm39) V372G probably benign Het
Slc7a7 T C 14: 54,646,190 (GRCm39) Y91C probably damaging Het
Slc7a9 T A 7: 35,152,988 (GRCm39) Y135* probably null Het
Slco1a7 A T 6: 141,668,905 (GRCm39) M509K probably benign Het
Slco4a1 A G 2: 180,115,408 (GRCm39) N662D probably damaging Het
Slfn4 T A 11: 83,080,108 (GRCm39) probably benign Het
Slmap T C 14: 26,189,690 (GRCm39) N156S probably damaging Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Sorbs1 T A 19: 40,303,133 (GRCm39) R485S probably benign Het
Spib A G 7: 44,178,309 (GRCm39) S154P probably damaging Het
Spty2d1 T C 7: 46,645,858 (GRCm39) D595G probably damaging Het
St7 T A 6: 17,906,515 (GRCm39) probably null Het
Susd1 T C 4: 59,428,029 (GRCm39) T52A possibly damaging Het
Svs5 T A 2: 164,079,043 (GRCm39) D288V possibly damaging Het
Syt7 T A 19: 10,420,288 (GRCm39) I355N probably damaging Het
Tarm1 G A 7: 3,545,416 (GRCm39) Q145* probably null Het
Teddm2 T A 1: 153,726,487 (GRCm39) E76V probably damaging Het
Thsd7b T C 1: 129,540,923 (GRCm39) S343P probably damaging Het
Tigd2 T A 6: 59,188,400 (GRCm39) H422Q probably benign Het
Tle1 T C 4: 72,043,256 (GRCm39) N538D possibly damaging Het
Tmc2 A G 2: 130,103,317 (GRCm39) probably null Het
Tmtc1 A C 6: 148,186,478 (GRCm39) probably null Het
Tns3 C T 11: 8,400,986 (GRCm39) R1104H probably benign Het
Trim6 T C 7: 103,881,855 (GRCm39) Y369H probably damaging Het
Triobp G A 15: 78,851,313 (GRCm39) R489K probably damaging Het
Trpv4 T C 5: 114,760,814 (GRCm39) D732G possibly damaging Het
Trrap G A 5: 144,753,380 (GRCm39) V1883I probably damaging Het
Tsc2 C A 17: 24,822,249 (GRCm39) V1141F possibly damaging Het
Ttn A T 2: 76,773,355 (GRCm39) M2395K unknown Het
Ttn A G 2: 76,730,171 (GRCm39) probably benign Het
Tyrp1 A T 4: 80,763,172 (GRCm39) D353V possibly damaging Het
Ubd A C 17: 37,506,593 (GRCm39) T160P probably benign Het
Ugt2b36 G T 5: 87,229,397 (GRCm39) Y156* probably null Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Unc13d A G 11: 115,964,408 (GRCm39) V312A possibly damaging Het
Urb2 G T 8: 124,755,636 (GRCm39) A448S probably damaging Het
Urod G A 4: 116,848,870 (GRCm39) A92V possibly damaging Het
Vmn1r33 T A 6: 66,588,803 (GRCm39) R250S probably benign Het
Vmn1r87 A T 7: 12,866,254 (GRCm39) M11K possibly damaging Het
Vmn2r77 C T 7: 86,450,195 (GRCm39) T147I probably benign Het
Vstm4 A G 14: 32,639,859 (GRCm39) K96E possibly damaging Het
Vxn T C 1: 9,677,201 (GRCm39) S24P probably benign Het
Washc4 A T 10: 83,410,343 (GRCm39) M644L probably benign Het
Wwp1 T C 4: 19,661,990 (GRCm39) D172G probably benign Het
Zbtb38 A T 9: 96,569,737 (GRCm39) V449E probably damaging Het
Zfp229 C T 17: 21,964,267 (GRCm39) H166Y possibly damaging Het
Zfp512b A G 2: 181,230,532 (GRCm39) S453P probably benign Het
Zp2 C A 7: 119,737,343 (GRCm39) V282L probably damaging Het
Other mutations in Ret
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2017-03-08