Incidental Mutation 'R7775:Tfap2b'
ID 598802
Institutional Source Beutler Lab
Gene Symbol Tfap2b
Ensembl Gene ENSMUSG00000025927
Gene Name transcription factor AP-2 beta
Synonyms Tcfap2b, E130018K07Rik, AP-2(beta)
MMRRC Submission 045831-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7775 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 19279138-19308800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19304531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 447 (G447D)
Ref Sequence ENSEMBL: ENSMUSP00000027059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027059] [ENSMUST00000064976] [ENSMUST00000187754]
AlphaFold Q61313
Predicted Effect probably damaging
Transcript: ENSMUST00000027059
AA Change: G447D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: G447D

DomainStartEndE-ValueType
low complexity region 61 83 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
Pfam:TF_AP-2 228 428 7.1e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064976
AA Change: G429D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: G429D

DomainStartEndE-ValueType
low complexity region 43 65 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
low complexity region 178 192 N/A INTRINSIC
Pfam:TF_AP-2 208 415 2.2e-100 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000187754
SMART Domains Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927

DomainStartEndE-ValueType
low complexity region 61 83 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
Pfam:TF_AP-2 226 433 2.2e-101 PFAM
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
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 AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 T C 7: 16,296,573 (GRCm39) K831E probably benign Het
Arpc1a C T 5: 145,041,622 (GRCm39) R302C probably benign Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Capn7 A G 14: 31,074,367 (GRCm39) T257A probably benign Het
Car4 T C 11: 84,856,449 (GRCm39) S246P probably damaging Het
Chrm5 A G 2: 112,310,301 (GRCm39) S272P probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Chst12 T A 5: 140,509,376 (GRCm39) M1K probably null Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Coro6 T G 11: 77,356,599 (GRCm39) D102E probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Dtx4 G T 19: 12,469,374 (GRCm39) P251Q probably benign Het
Dyrk3 C T 1: 131,057,364 (GRCm39) V270I possibly damaging Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Ep300 T C 15: 81,470,887 (GRCm39) S20P unknown Het
Fmnl2 C T 2: 52,963,692 (GRCm39) L275F unknown Het
Fstl4 C T 11: 53,067,798 (GRCm39) Q554* probably null Het
Gal3st2b G T 1: 93,868,506 (GRCm39) D246Y probably damaging Het
Gkap1 A T 13: 58,398,966 (GRCm39) D188E probably benign Het
Gm14226 T A 2: 154,866,630 (GRCm39) C196S possibly damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Grm8 T C 6: 27,363,671 (GRCm39) R615G possibly damaging Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Kansl3 A T 1: 36,387,758 (GRCm39) L530H probably damaging Het
Kcna5 A T 6: 126,511,768 (GRCm39) L120* probably null Het
Kif26b T A 1: 178,692,441 (GRCm39) S461T probably benign Het
L3mbtl3 A T 10: 26,228,215 (GRCm39) V15E unknown Het
Lama4 A T 10: 38,954,843 (GRCm39) H1132L probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Ldlrad4 T C 18: 68,368,827 (GRCm39) S95P probably damaging Het
Liph G T 16: 21,777,664 (GRCm39) L379I probably damaging Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Matn2 A T 15: 34,399,223 (GRCm39) H370L possibly damaging Het
Mettl23 T G 11: 116,740,096 (GRCm39) V189G probably benign Het
Mpp4 G A 1: 59,162,672 (GRCm39) T543M not run Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Or10d4 C A 9: 39,580,534 (GRCm39) F60L possibly damaging Het
Or5ac21 A T 16: 59,123,614 (GRCm39) I33F probably damaging Het
Or7d9 A G 9: 20,193,708 (GRCm39) probably benign Het
Or8b36 T A 9: 37,937,963 (GRCm39) I287N probably damaging Het
Or8g21 T A 9: 38,906,203 (GRCm39) H176L probably damaging Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Pcdha11 A T 18: 37,145,733 (GRCm39) Y608F possibly damaging Het
Pcdhga5 A G 18: 37,828,578 (GRCm39) D342G probably damaging Het
Pde6d A G 1: 86,471,250 (GRCm39) S143P probably damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Plec A T 15: 76,061,135 (GRCm39) I2934N probably damaging Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Prrt4 A G 6: 29,177,718 (GRCm39) L17P probably damaging Het
Pycr3 T C 15: 75,790,138 (GRCm39) D171G probably damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rapsn A G 2: 90,875,293 (GRCm39) T359A probably benign Het
Sap25 C T 5: 137,640,186 (GRCm39) R66W probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Txndc2 A G 17: 65,945,238 (GRCm39) V313A probably benign Het
Uevld A T 7: 46,576,100 (GRCm39) I462N probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Zfp936 A G 7: 42,839,720 (GRCm39) T396A possibly damaging Het
Other mutations in Tfap2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tfap2b APN 1 19,284,250 (GRCm39) missense possibly damaging 0.94
IGL01868:Tfap2b APN 1 19,284,506 (GRCm39) missense probably damaging 0.98
IGL02408:Tfap2b APN 1 19,304,485 (GRCm39) missense probably damaging 0.99
IGL02412:Tfap2b APN 1 19,289,427 (GRCm39) missense probably damaging 0.99
R0243:Tfap2b UTSW 1 19,304,347 (GRCm39) missense probably damaging 1.00
R0552:Tfap2b UTSW 1 19,304,449 (GRCm39) missense probably damaging 1.00
R1077:Tfap2b UTSW 1 19,304,373 (GRCm39) nonsense probably null
R1541:Tfap2b UTSW 1 19,304,294 (GRCm39) missense probably damaging 1.00
R1816:Tfap2b UTSW 1 19,279,436 (GRCm39) missense probably damaging 0.98
R2474:Tfap2b UTSW 1 19,284,599 (GRCm39) missense possibly damaging 0.49
R5019:Tfap2b UTSW 1 19,296,666 (GRCm39) missense probably benign 0.31
R5300:Tfap2b UTSW 1 19,298,677 (GRCm39) missense probably damaging 1.00
R5331:Tfap2b UTSW 1 19,296,722 (GRCm39) missense probably benign
R5383:Tfap2b UTSW 1 19,296,722 (GRCm39) missense probably benign
R5541:Tfap2b UTSW 1 19,284,250 (GRCm39) missense possibly damaging 0.94
R5744:Tfap2b UTSW 1 19,289,445 (GRCm39) missense probably benign 0.15
R7239:Tfap2b UTSW 1 19,304,404 (GRCm39) missense probably damaging 1.00
R7684:Tfap2b UTSW 1 19,284,511 (GRCm39) missense probably damaging 1.00
R7686:Tfap2b UTSW 1 19,284,511 (GRCm39) missense probably damaging 1.00
R7778:Tfap2b UTSW 1 19,304,531 (GRCm39) missense probably damaging 0.98
R7824:Tfap2b UTSW 1 19,304,531 (GRCm39) missense probably damaging 0.98
R8305:Tfap2b UTSW 1 19,296,660 (GRCm39) missense possibly damaging 0.80
R8816:Tfap2b UTSW 1 19,284,337 (GRCm39) missense probably benign 0.00
R9040:Tfap2b UTSW 1 19,304,314 (GRCm39) missense probably damaging 1.00
R9223:Tfap2b UTSW 1 19,282,649 (GRCm39) critical splice donor site probably null
R9629:Tfap2b UTSW 1 19,289,468 (GRCm39) missense probably damaging 1.00
R9715:Tfap2b UTSW 1 19,284,373 (GRCm39) missense probably damaging 0.96
X0026:Tfap2b UTSW 1 19,296,774 (GRCm39) missense probably damaging 1.00
Z1176:Tfap2b UTSW 1 19,304,357 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GGCATCCAAAGCTGTCTCAC -3'
(R):5'- GTTGCTCCGTTGTATGCCTCAG -3'

Sequencing Primer
(F):5'- AAGCTGTCTCACGCACTTCAG -3'
(R):5'- GCCAATCCAATATGTTAAAGCTA -3'
Posted On 2019-11-26