Incidental Mutation 'R7462:Tpbg'
ID 578512
Institutional Source Beutler Lab
Gene Symbol Tpbg
Ensembl Gene ENSMUSG00000035274
Gene Name trophoblast glycoprotein
Synonyms 5T4 oncofetal antigen, 5T4
MMRRC Submission 045536-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R7462 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 85724433-85729093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85726903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 291 (A291T)
Ref Sequence ENSEMBL: ENSMUSP00000006559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006559] [ENSMUST00000098500]
AlphaFold Q9Z0L0
Predicted Effect possibly damaging
Transcript: ENSMUST00000006559
AA Change: A291T

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: A291T

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
LRRNT 61 95 1.27e-6 SMART
LRR 94 113 1.53e2 SMART
LRR_TYP 117 140 1.92e-2 SMART
LRR_TYP 141 164 6.88e-4 SMART
LRR 215 238 6.22e0 SMART
LRR_TYP 239 262 2.2e-2 SMART
LRR 263 286 2.67e-1 SMART
LRRCT 300 351 9.1e-14 SMART
transmembrane domain 360 382 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098500
AA Change: A291T

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: A291T

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
LRRNT 61 95 1.27e-6 SMART
LRR 94 113 1.53e2 SMART
LRR_TYP 117 140 1.92e-2 SMART
LRR_TYP 141 164 6.88e-4 SMART
LRR 215 238 6.22e0 SMART
LRR_TYP 239 262 2.2e-2 SMART
LRR 263 286 2.67e-1 SMART
LRRCT 300 351 9.1e-14 SMART
transmembrane domain 360 382 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G C 3: 126,736,683 (GRCm39) T3067S unknown Het
Ankrd28 T C 14: 31,500,886 (GRCm39) N35S probably benign Het
Bicra A T 7: 15,713,060 (GRCm39) S996T possibly damaging Het
Btbd7 T C 12: 102,803,981 (GRCm39) E353G possibly damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Ceacam5 A T 7: 17,494,764 (GRCm39) Y924F probably damaging Het
Clca4b A G 3: 144,628,621 (GRCm39) I362T probably benign Het
Dchs2 A G 3: 83,253,462 (GRCm39) probably null Het
Dlc1 T A 8: 37,405,118 (GRCm39) T224S unknown Het
Dmxl2 T C 9: 54,273,916 (GRCm39) probably null Het
Dnajc1 A G 2: 18,313,710 (GRCm39) F137S probably damaging Het
E130311K13Rik T C 3: 63,836,722 (GRCm39) T24A probably benign Het
Eya1 T C 1: 14,301,638 (GRCm39) E317G probably null Het
Fpr-rs6 A G 17: 20,402,485 (GRCm39) L292P probably damaging Het
Gca G T 2: 62,502,753 (GRCm39) D54Y possibly damaging Het
Gm45861 G A 8: 28,024,517 (GRCm39) probably null Het
Gm57858 T A 3: 36,080,055 (GRCm39) probably null Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Hgsnat T C 8: 26,447,241 (GRCm39) N351S probably benign Het
Htr1f A T 16: 64,746,383 (GRCm39) V303E probably damaging Het
Iars2 C A 1: 185,055,063 (GRCm39) W302L probably damaging Het
Igkv4-74 T A 6: 69,162,100 (GRCm39) Q23L possibly damaging Het
Il18 A T 9: 50,476,673 (GRCm39) probably benign Het
Ints4 A G 7: 97,155,335 (GRCm39) D329G probably benign Het
Itsn1 T C 16: 91,650,073 (GRCm39) F249S possibly damaging Het
Ktn1 A G 14: 47,932,089 (GRCm39) E672G probably null Het
Lhx6 A G 2: 35,974,083 (GRCm39) I359T possibly damaging Het
Lrp1b T C 2: 41,003,041 (GRCm39) E2030G Het
Macf1 T A 4: 123,386,556 (GRCm39) K1114N probably damaging Het
Mbd5 A G 2: 49,147,892 (GRCm39) M701V possibly damaging Het
Mcemp1 A T 8: 3,717,065 (GRCm39) M69L probably benign Het
Mfsd4b2 T A 10: 39,797,877 (GRCm39) K159N probably benign Het
Mroh2b T A 15: 4,938,109 (GRCm39) D243E probably damaging Het
Muc21 T C 17: 35,931,568 (GRCm39) S873G unknown Het
Mug1 A T 6: 121,852,399 (GRCm39) Q829L probably benign Het
Nav3 A T 10: 109,659,439 (GRCm39) V726E probably damaging Het
Nfib T C 4: 82,271,826 (GRCm39) Q247R probably benign Het
Npbwr1 T C 1: 5,987,151 (GRCm39) N121S probably damaging Het
Or1e19 T C 11: 73,316,296 (GRCm39) D171G probably benign Het
Or52b2 T A 7: 104,986,707 (GRCm39) D72V probably damaging Het
Or5h19 A T 16: 58,856,379 (GRCm39) C240* probably null Het
Pkd1l3 A G 8: 110,355,409 (GRCm39) S726G probably benign Het
Ppip5k1 A T 2: 121,167,232 (GRCm39) V847D probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ripor2 G A 13: 24,880,290 (GRCm39) V385M unknown Het
Rufy1 C T 11: 50,298,655 (GRCm39) V379M possibly damaging Het
S100a5 A G 3: 90,517,207 (GRCm39) K26R probably damaging Het
Sin3a T C 9: 57,002,809 (GRCm39) S234P probably benign Het
Sirt7 G A 11: 120,511,618 (GRCm39) T225I probably benign Het
Slc34a1 A T 13: 24,006,401 (GRCm39) T476S probably damaging Het
Slc38a6 T A 12: 73,397,351 (GRCm39) M331K probably benign Het
Spam1 T C 6: 24,796,907 (GRCm39) I286T probably damaging Het
Syne1 T A 10: 5,002,793 (GRCm39) I214F possibly damaging Het
Tmtc1 A G 6: 148,226,643 (GRCm39) L427P probably damaging Het
Zfp40 A G 17: 23,397,362 (GRCm39) F45S possibly damaging Het
Zfp451 C T 1: 33,816,094 (GRCm39) V619M probably damaging Het
Zim1 A G 7: 6,680,811 (GRCm39) L284P probably damaging Het
Zkscan4 A G 13: 21,668,044 (GRCm39) E165G probably benign Het
Zmynd11 T A 13: 9,748,720 (GRCm39) N154Y probably benign Het
Zscan12 A T 13: 21,553,457 (GRCm39) H427L possibly damaging Het
Other mutations in Tpbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Tpbg APN 9 85,726,145 (GRCm39) missense unknown
IGL01789:Tpbg APN 9 85,726,954 (GRCm39) missense probably benign 0.00
IGL01987:Tpbg APN 9 85,727,252 (GRCm39) missense probably damaging 1.00
R0399:Tpbg UTSW 9 85,726,991 (GRCm39) missense possibly damaging 0.63
R0418:Tpbg UTSW 9 85,726,803 (GRCm39) nonsense probably null
R0904:Tpbg UTSW 9 85,726,617 (GRCm39) missense unknown
R1748:Tpbg UTSW 9 85,726,429 (GRCm39) missense probably damaging 1.00
R3744:Tpbg UTSW 9 85,727,215 (GRCm39) missense probably damaging 1.00
R3836:Tpbg UTSW 9 85,725,167 (GRCm39) intron probably benign
R3837:Tpbg UTSW 9 85,725,167 (GRCm39) intron probably benign
R3839:Tpbg UTSW 9 85,725,167 (GRCm39) intron probably benign
R5221:Tpbg UTSW 9 85,726,478 (GRCm39) missense probably damaging 1.00
R6488:Tpbg UTSW 9 85,726,538 (GRCm39) missense possibly damaging 0.70
R7192:Tpbg UTSW 9 85,726,085 (GRCm39) nonsense probably null
R8481:Tpbg UTSW 9 85,726,138 (GRCm39) missense unknown
R8895:Tpbg UTSW 9 85,726,520 (GRCm39) missense possibly damaging 0.50
R9073:Tpbg UTSW 9 85,724,924 (GRCm39) splice site probably null
R9092:Tpbg UTSW 9 85,726,916 (GRCm39) missense possibly damaging 0.87
R9319:Tpbg UTSW 9 85,725,991 (GRCm39) start gained probably benign
R9655:Tpbg UTSW 9 85,726,252 (GRCm39) missense probably damaging 1.00
R9708:Tpbg UTSW 9 85,726,574 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTCCTGCCTCGGGACTTACTAG -3'
(R):5'- CATAGGAAGTCTGCAGGGATTG -3'

Sequencing Primer
(F):5'- TCGGGACTTACTAGCCCAACTG -3'
(R):5'- TCACAGTCCAGGTCAGAGCTG -3'
Posted On 2019-10-07