Incidental Mutation 'R7684:Tfap2b'
ID 592904
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 067780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7684 (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 C at 19284511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 140 (D140H)
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: D140H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: D140H

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: D122H

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: D122H

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 damaging
Transcript: ENSMUST00000187754
AA Change: D140H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: D140H

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 0.1164 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cldn8 A G 16: 88,359,335 (GRCm39) Y197H probably damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
H6pd G T 4: 150,080,519 (GRCm39) Q109K probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Krit1 A G 5: 3,880,723 (GRCm39) I561V possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nrg3 A T 14: 39,194,522 (GRCm39) L79Q probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a18 G T 7: 143,044,577 (GRCm39) V177L probably benign Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q probably 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
R7686:Tfap2b UTSW 1 19,284,511 (GRCm39) missense probably damaging 1.00
R7775:Tfap2b UTSW 1 19,304,531 (GRCm39) missense probably damaging 0.98
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'- AGAGTCAAGACCCGTACTCC -3'
(R):5'- CGGTTCTAAAGATGACAACTCCCC -3'

Sequencing Primer
(F):5'- GTACTCCCACGTCAACGATC -3'
(R):5'- CAGAGAAGACCAGGCCGC -3'
Posted On 2019-11-12