Incidental Mutation 'R0940:Tpbpa'
ID 81447
Institutional Source Beutler Lab
Gene Symbol Tpbpa
Ensembl Gene ENSMUSG00000033834
Gene Name trophoblast specific protein alpha
Synonyms Tb-1, clone 4311, Tb1, Tpbp, 4311
MMRRC Submission 039079-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 61086306-61089750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61087867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000021885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021880] [ENSMUST00000021885] [ENSMUST00000224054] [ENSMUST00000225167] [ENSMUST00000225275] [ENSMUST00000225936] [ENSMUST00000225859]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021880
SMART Domains Protein: ENSMUSP00000021880
Gene: ENSMUSG00000044258

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Inhibitor_I29 40 99 6.2e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000021885
AA Change: T75A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021885
Gene: ENSMUSG00000033834
AA Change: T75A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223750
Predicted Effect probably benign
Transcript: ENSMUST00000224054
Predicted Effect probably benign
Transcript: ENSMUST00000225167
Predicted Effect probably benign
Transcript: ENSMUST00000225275
Predicted Effect probably benign
Transcript: ENSMUST00000225936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225966
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226023
Predicted Effect probably benign
Transcript: ENSMUST00000225802
Predicted Effect probably benign
Transcript: ENSMUST00000225859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225762
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Adrb2 T C 18: 62,312,762 (GRCm39) D21G probably benign Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Bcl7c T A 7: 127,306,503 (GRCm39) N96I possibly damaging Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Hnrnpm G A 17: 33,868,976 (GRCm39) R523C probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nfatc1 C T 18: 80,679,110 (GRCm39) M759I probably benign Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Pkm C T 9: 59,575,818 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S probably damaging Het
Other mutations in Tpbpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Tpbpa APN 13 61,088,047 (GRCm39) missense possibly damaging 0.95
R2022:Tpbpa UTSW 13 61,088,036 (GRCm39) missense probably benign 0.12
R3692:Tpbpa UTSW 13 61,087,827 (GRCm39) missense probably benign 0.02
R7187:Tpbpa UTSW 13 61,088,399 (GRCm39) unclassified probably benign
R8745:Tpbpa UTSW 13 61,087,778 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGCCACATTGTATGGAGCAGAACAC -3'
(R):5'- GGTCACATGGGAACTGTCCAAAGAG -3'

Sequencing Primer
(F):5'- ACACTTAGACAGTGGACTGC -3'
(R):5'- CTCAAGGAGAATAGTGCTTGCTAC -3'
Posted On 2013-11-07