Incidental Mutation 'IGL02255:Ret'
ID 286573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ret
Ensembl Gene ENSMUSG00000030110
Gene Name ret proto-oncogene
Synonyms RET9, c-Ret, RET51
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # IGL02255
Quality Score
Status
Chromosome 6
Chromosomal Location 118128706-118174679 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 118152081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032201] [ENSMUST00000032201] [ENSMUST00000088790] [ENSMUST00000088790]
AlphaFold P35546
Predicted Effect probably null
Transcript: ENSMUST00000032201
SMART Domains Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110

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 probably null
Transcript: ENSMUST00000032201
SMART Domains Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110

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 probably null
Transcript: ENSMUST00000088790
SMART Domains Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110

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 probably null
Transcript: ENSMUST00000088790
SMART Domains Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110

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
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 C T 12: 84,088,799 (GRCm39) L216F probably damaging Het
Acp7 C T 7: 28,314,148 (GRCm39) C349Y probably damaging Het
Cdc42ep5 G A 7: 4,154,399 (GRCm39) Q130* probably null Het
Cip2a T A 16: 48,831,176 (GRCm39) D541E probably damaging Het
Dmxl2 A G 9: 54,301,052 (GRCm39) I2353T probably benign Het
Dnmt3a T A 12: 3,922,886 (GRCm39) probably benign Het
Dtx3l A G 16: 35,753,706 (GRCm39) V300A probably benign Het
Fbxo15 G T 18: 84,982,321 (GRCm39) probably null Het
Fbxw22 C A 9: 109,215,619 (GRCm39) probably benign Het
Gli2 A T 1: 118,772,079 (GRCm39) probably null Het
Gli3 T A 13: 15,823,304 (GRCm39) I342N probably damaging Het
Gm5431 T A 11: 48,779,785 (GRCm39) N657I possibly damaging Het
Mybpc1 A T 10: 88,372,290 (GRCm39) I766N probably damaging Het
Or5b119 T A 19: 13,457,349 (GRCm39) Y71F probably damaging Het
Pkhd1 A T 1: 20,654,325 (GRCm39) I244N probably damaging Het
Rrp12 A T 19: 41,861,410 (GRCm39) F966I probably damaging Het
Rubcn T C 16: 32,647,715 (GRCm39) I681V probably benign Het
Selenof T C 3: 144,302,588 (GRCm39) V121A possibly damaging Het
Srl A T 16: 4,305,422 (GRCm39) V541D probably damaging Het
Thbs2 T C 17: 14,910,047 (GRCm39) E184G probably benign Het
Vmn2r81 G A 10: 79,083,806 (GRCm39) W60* probably null Het
Zfp526 A G 7: 24,924,958 (GRCm39) M406V possibly damaging Het
Other mutations in Ret
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16