Incidental Mutation 'R9715:Tfap2b'
ID 730370
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9715 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 19279138-19308800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19284373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
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: S94P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: S94P

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 possibly damaging
Transcript: ENSMUST00000064976
AA Change: S76P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: S76P

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: S94P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: S94P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,359 (GRCm39) V1323I probably damaging Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Cbr3 A G 16: 93,481,941 (GRCm39) D99G probably benign Het
Ccdc17 T A 4: 116,455,090 (GRCm39) L215Q probably damaging Het
Cep350 A G 1: 155,751,107 (GRCm39) Y2022H probably benign Het
Cimip2c G C 5: 30,641,261 (GRCm39) D170H possibly damaging Het
Cnbd2 T C 2: 156,183,547 (GRCm39) S338P probably benign Het
D5Ertd579e A T 5: 36,787,029 (GRCm39) V113D possibly damaging Het
Dhx30 A G 9: 109,916,718 (GRCm39) F570S probably damaging Het
Ephb1 T C 9: 101,848,384 (GRCm39) N679S probably damaging Het
Faxc T C 4: 21,993,307 (GRCm39) I317T probably damaging Het
Fgd5 T C 6: 91,965,290 (GRCm39) Y508H possibly damaging Het
Foxd2 G T 4: 114,765,195 (GRCm39) A275E unknown Het
Fut9 C A 4: 25,620,679 (GRCm39) S45I probably benign Het
Gm5148 T C 3: 37,768,801 (GRCm39) N140D unknown Het
Gpr37l1 C T 1: 135,089,391 (GRCm39) G225S probably damaging Het
Gramd1c G A 16: 43,825,840 (GRCm39) S107L possibly damaging Het
Gtpbp2 A G 17: 46,478,301 (GRCm39) D483G Het
Ik G A 18: 36,886,566 (GRCm39) R346H probably benign Het
Ino80e A T 7: 126,461,098 (GRCm39) Y50N unknown Het
Irag1 A T 7: 110,470,640 (GRCm39) S898T possibly damaging Het
Kbtbd2 A G 6: 56,756,566 (GRCm39) V390A probably benign Het
Limch1 A C 5: 67,156,360 (GRCm39) N276H probably damaging Het
Negr1 T G 3: 156,774,936 (GRCm39) probably null Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nlrp14 G A 7: 106,781,626 (GRCm39) M274I probably benign Het
Nr1d1 T C 11: 98,662,943 (GRCm39) I17V probably benign Het
Or10ad1b T A 15: 98,124,902 (GRCm39) D210V probably damaging Het
Or4k35 T C 2: 111,100,623 (GRCm39) I30V probably benign Het
Or5p64 A G 7: 107,855,198 (GRCm39) I49T probably benign Het
Ppip5k2 A G 1: 97,677,312 (GRCm39) V334A Het
Ppp1r9a G A 6: 5,045,936 (GRCm39) V467I probably damaging Het
Ppp2r2c A G 5: 37,097,488 (GRCm39) I225V possibly damaging Het
Ptpro A T 6: 137,345,108 (GRCm39) N38I probably damaging Het
Scn2a C A 2: 65,579,149 (GRCm39) Q1495K possibly damaging Het
Scn7a A T 2: 66,519,902 (GRCm39) Y1001N possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh3bgrl2 T A 9: 83,430,513 (GRCm39) M1K probably null Het
Slc25a12 C T 2: 71,109,899 (GRCm39) V516M probably benign Het
Sptbn4 A G 7: 27,091,000 (GRCm39) L1402P probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Svop A G 5: 114,198,169 (GRCm39) S135P probably benign Het
Sycp2 G T 2: 178,035,957 (GRCm39) D243E probably damaging Het
Tcerg1 T C 18: 42,706,413 (GRCm39) F1030S probably damaging Het
Tecta T A 9: 42,286,596 (GRCm39) N687Y probably damaging Het
Tep1 A T 14: 51,081,759 (GRCm39) H1230Q Het
Tll2 C A 19: 41,092,238 (GRCm39) G533V probably damaging Het
Vmn2r55 A G 7: 12,402,061 (GRCm39) V409A probably damaging Het
Wdr41 A G 13: 95,145,373 (GRCm39) E194G probably damaging Het
Zan G T 5: 137,398,817 (GRCm39) S4182R unknown Het
Zfpl1 T C 19: 6,134,074 (GRCm39) Y40C probably damaging Het
Znrf3 C A 11: 5,232,454 (GRCm39) R257L 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
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
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'- TAGCTCGAGACTCTCTCAACTGG -3'
(R):5'- AATTACCTGCACGTCTTCCATG -3'

Sequencing Primer
(F):5'- GAGACTCTCTCAACTGGGCTCTG -3'
(R):5'- ACGTCTTCCATGCCGGGATG -3'
Posted On 2022-10-06