Incidental Mutation 'R5431:Tgfbr2'
ID 428057
Institutional Source Beutler Lab
Gene Symbol Tgfbr2
Ensembl Gene ENSMUSG00000032440
Gene Name transforming growth factor, beta receptor II
Synonyms TbetaRII, TBR-II, TbetaR-II, 1110020H15Rik
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 115916763-116004431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115960669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 94 (S94R)
Ref Sequence ENSEMBL: ENSMUSP00000062333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035014] [ENSMUST00000061101]
AlphaFold Q62312
Predicted Effect probably damaging
Transcript: ENSMUST00000035014
AA Change: S69R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: S69R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ecTbetaR2 47 165 1.8e-55 PFAM
Pfam:Pkinase 244 538 9.9e-52 PFAM
Pfam:Pkinase_Tyr 244 538 2.9e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000061101
AA Change: S94R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: S94R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ecTbetaR2 74 184 4.6e-45 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Pfam:Pkinase 269 563 2.7e-36 PFAM
Pfam:Pkinase_Tyr 269 563 5e-37 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging Het
Other mutations in Tgfbr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Tgfbr2 APN 9 115,939,257 (GRCm39) missense probably damaging 0.99
IGL00484:Tgfbr2 APN 9 115,987,357 (GRCm39) missense probably benign 0.00
IGL01010:Tgfbr2 APN 9 115,959,048 (GRCm39) missense possibly damaging 0.80
IGL01656:Tgfbr2 APN 9 115,938,737 (GRCm39) missense probably damaging 1.00
IGL02496:Tgfbr2 APN 9 115,919,486 (GRCm39) missense probably benign 0.13
IGL02550:Tgfbr2 APN 9 115,939,197 (GRCm39) missense probably benign
IGL02563:Tgfbr2 APN 9 115,959,066 (GRCm39) missense probably benign 0.10
IGL03403:Tgfbr2 APN 9 115,939,370 (GRCm39) missense probably benign
Balm UTSW 9 115,958,898 (GRCm39) missense probably damaging 0.98
emollient UTSW 9 115,939,323 (GRCm39) missense possibly damaging 0.64
IGL02799:Tgfbr2 UTSW 9 115,939,204 (GRCm39) missense possibly damaging 0.50
R0617:Tgfbr2 UTSW 9 115,987,388 (GRCm39) missense probably benign 0.00
R1483:Tgfbr2 UTSW 9 115,938,625 (GRCm39) missense probably benign 0.04
R1776:Tgfbr2 UTSW 9 116,004,035 (GRCm39) missense possibly damaging 0.94
R1777:Tgfbr2 UTSW 9 115,938,948 (GRCm39) missense probably damaging 0.99
R1831:Tgfbr2 UTSW 9 115,919,604 (GRCm39) missense possibly damaging 0.74
R2323:Tgfbr2 UTSW 9 115,939,212 (GRCm39) missense possibly damaging 0.90
R2378:Tgfbr2 UTSW 9 115,959,018 (GRCm39) missense probably benign 0.02
R3123:Tgfbr2 UTSW 9 115,939,137 (GRCm39) missense possibly damaging 0.95
R3418:Tgfbr2 UTSW 9 115,958,901 (GRCm39) missense probably damaging 1.00
R3605:Tgfbr2 UTSW 9 115,938,960 (GRCm39) missense probably benign 0.03
R4039:Tgfbr2 UTSW 9 116,004,105 (GRCm39) start codon destroyed probably null 0.62
R4191:Tgfbr2 UTSW 9 115,939,009 (GRCm39) missense probably damaging 1.00
R4193:Tgfbr2 UTSW 9 115,939,009 (GRCm39) missense probably damaging 1.00
R4945:Tgfbr2 UTSW 9 115,960,633 (GRCm39) missense probably benign
R5714:Tgfbr2 UTSW 9 116,004,092 (GRCm39) missense probably damaging 0.98
R5964:Tgfbr2 UTSW 9 115,939,323 (GRCm39) missense possibly damaging 0.64
R6180:Tgfbr2 UTSW 9 115,939,212 (GRCm39) missense possibly damaging 0.90
R6970:Tgfbr2 UTSW 9 115,939,119 (GRCm39) missense probably damaging 0.97
R7228:Tgfbr2 UTSW 9 115,939,011 (GRCm39) missense probably damaging 1.00
R7258:Tgfbr2 UTSW 9 115,958,898 (GRCm39) missense probably damaging 0.98
R7315:Tgfbr2 UTSW 9 115,938,806 (GRCm39) missense possibly damaging 0.49
R8171:Tgfbr2 UTSW 9 115,959,074 (GRCm39) nonsense probably null
R8175:Tgfbr2 UTSW 9 115,939,023 (GRCm39) missense possibly damaging 0.92
R8417:Tgfbr2 UTSW 9 115,939,197 (GRCm39) missense probably benign
R9288:Tgfbr2 UTSW 9 115,939,149 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATGTGATACACGGGACTGTG -3'
(R):5'- TTTCTAGCACGGGATCCCATG -3'

Sequencing Primer
(F):5'- TAGACTGTGTCCCCCTAGAACTGG -3'
(R):5'- ATCCCATGGAGTAACCTCTGG -3'
Posted On 2016-09-01