Incidental Mutation 'R4038:Tfap2c'
ID 313784
Institutional Source Beutler Lab
Gene Symbol Tfap2c
Ensembl Gene ENSMUSG00000028640
Gene Name transcription factor AP-2, gamma
Synonyms Tcfap2c, AP2gamma, Stra2, Ap-2.2
MMRRC Submission 040965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4038 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172391513-172400542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 172398110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 413 (S413C)
Ref Sequence ENSEMBL: ENSMUSP00000096657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030391] [ENSMUST00000099058] [ENSMUST00000170744]
AlphaFold Q61312
Predicted Effect possibly damaging
Transcript: ENSMUST00000030391
AA Change: S349C

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: S349C

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
low complexity region 148 168 N/A INTRINSIC
Pfam:TF_AP-2 219 427 2.1e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099058
AA Change: S413C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: S413C

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 118 130 N/A INTRINSIC
low complexity region 176 188 N/A INTRINSIC
low complexity region 212 232 N/A INTRINSIC
Pfam:TF_AP-2 285 486 2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142633
Predicted Effect possibly damaging
Transcript: ENSMUST00000170744
AA Change: S388C

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: S388C

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
low complexity region 187 207 N/A INTRINSIC
Pfam:TF_AP-2 258 466 4.4e-102 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation, failure to establish a normal maternal-embryonic interface, malformed extra-embryonic tissues, and early embryonic lethality due to placental malfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ate1 A G 7: 130,106,495 (GRCm39) S282P probably damaging Het
Cacna1d T A 14: 29,788,040 (GRCm39) Q1610L probably damaging Het
Carmil2 C A 8: 106,422,039 (GRCm39) R1103S probably damaging Het
Clca3a1 T A 3: 144,460,994 (GRCm39) Y219F probably benign Het
Creb3l3 A G 10: 80,925,172 (GRCm39) V224A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Elp2 T A 18: 24,767,405 (GRCm39) W696R probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gm4787 A T 12: 81,425,132 (GRCm39) F342Y probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Gpr83 A G 9: 14,772,073 (GRCm39) I82V possibly damaging Het
Greb1l C T 18: 10,515,209 (GRCm39) T558I possibly damaging Het
Hnrnpul2 T A 19: 8,800,591 (GRCm39) probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Iqcd T C 5: 120,740,587 (GRCm39) V306A probably damaging Het
Lmod3 T C 6: 97,225,275 (GRCm39) N182S probably benign Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Nfia C A 4: 97,909,074 (GRCm39) R277S probably damaging Het
Or9m2 T A 2: 87,821,262 (GRCm39) I269N possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptprf C T 4: 118,114,805 (GRCm39) R150H probably damaging Het
Sfmbt1 T G 14: 30,509,449 (GRCm39) D309E probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc28a2 C A 2: 122,284,996 (GRCm39) A328E probably benign Het
Ssc4d C A 5: 135,999,170 (GRCm39) W11L possibly damaging Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Unc13c A G 9: 73,441,188 (GRCm39) probably null Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Wiz T C 17: 32,578,198 (GRCm39) E429G probably damaging Het
Zer1 T C 2: 29,997,535 (GRCm39) N457S probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging Het
Other mutations in Tfap2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Tfap2c APN 2 172,393,438 (GRCm39) missense probably damaging 0.98
IGL02986:Tfap2c APN 2 172,399,171 (GRCm39) missense probably damaging 1.00
IGL03151:Tfap2c APN 2 172,399,110 (GRCm39) nonsense probably null
BB009:Tfap2c UTSW 2 172,393,706 (GRCm39) missense probably damaging 1.00
BB019:Tfap2c UTSW 2 172,393,706 (GRCm39) missense probably damaging 1.00
R0268:Tfap2c UTSW 2 172,393,423 (GRCm39) missense probably benign 0.01
R0344:Tfap2c UTSW 2 172,393,423 (GRCm39) missense probably benign 0.01
R1982:Tfap2c UTSW 2 172,399,156 (GRCm39) missense probably damaging 0.98
R3120:Tfap2c UTSW 2 172,399,015 (GRCm39) missense possibly damaging 0.96
R4498:Tfap2c UTSW 2 172,399,102 (GRCm39) nonsense probably null
R4570:Tfap2c UTSW 2 172,399,247 (GRCm39) missense probably damaging 1.00
R4855:Tfap2c UTSW 2 172,393,438 (GRCm39) missense probably damaging 0.98
R5061:Tfap2c UTSW 2 172,393,947 (GRCm39) missense probably damaging 1.00
R5610:Tfap2c UTSW 2 172,391,778 (GRCm39) missense probably benign 0.06
R6706:Tfap2c UTSW 2 172,399,276 (GRCm39) missense probably benign 0.26
R7218:Tfap2c UTSW 2 172,399,277 (GRCm39) missense probably benign 0.12
R7228:Tfap2c UTSW 2 172,393,492 (GRCm39) missense probably benign 0.01
R7502:Tfap2c UTSW 2 172,393,639 (GRCm39) missense probably benign
R7932:Tfap2c UTSW 2 172,393,706 (GRCm39) missense probably damaging 1.00
R8078:Tfap2c UTSW 2 172,393,392 (GRCm39) missense probably damaging 1.00
R8336:Tfap2c UTSW 2 172,399,112 (GRCm39) nonsense probably null
R8686:Tfap2c UTSW 2 172,393,926 (GRCm39) missense possibly damaging 0.89
R9301:Tfap2c UTSW 2 172,395,347 (GRCm39) missense probably benign 0.02
R9608:Tfap2c UTSW 2 172,391,764 (GRCm39) nonsense probably null
R9663:Tfap2c UTSW 2 172,399,213 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGGCATGTGTCCATACGTG -3'
(R):5'- TGGTGTTAGCAGGCCCCTC -3'

Sequencing Primer
(F):5'- CGCAGGAACAAAGTAACCTTGCTG -3'
(R):5'- TCGCCACCTGGGATGGAG -3'
Posted On 2015-04-30