Incidental Mutation 'R9110:Pax4'
ID 692195
Institutional Source Beutler Lab
Gene Symbol Pax4
Ensembl Gene ENSMUSG00000029706
Gene Name paired box 4
Synonyms Pax-4
MMRRC Submission 068919-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9110 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 28442333-28449339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28445201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 158 (N158S)
Ref Sequence ENSEMBL: ENSMUSP00000031718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]
AlphaFold P32115
Predicted Effect probably benign
Transcript: ENSMUST00000031718
AA Change: N158S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: N158S

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164519
AA Change: N158S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: N158S

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171089
AA Change: N158S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: N158S

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174194
SMART Domains Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 139 190 2.22e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,831,615 (GRCm39) probably benign Het
Adam20 A G 8: 41,248,907 (GRCm39) D339G probably benign Het
Adam3 T A 8: 25,193,821 (GRCm39) Y397F probably benign Het
Ago3 C T 4: 126,248,829 (GRCm39) G574E probably damaging Het
Angptl4 T A 17: 33,999,800 (GRCm39) Y133F probably benign Het
Ankrd61 T C 5: 143,831,759 (GRCm39) D15G possibly damaging Het
Arfgap1 T A 2: 180,615,330 (GRCm39) S174T possibly damaging Het
Arhgap12 T C 18: 6,034,539 (GRCm39) D549G possibly damaging Het
Arhgap25 T C 6: 87,453,254 (GRCm39) E182G probably benign Het
Astn1 T G 1: 158,496,327 (GRCm39) I1127S probably benign Het
Bivm T C 1: 44,168,526 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,945,258 (GRCm39) S952T possibly damaging Het
Cfap44 T A 16: 44,255,923 (GRCm39) L1005Q probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cog1 T C 11: 113,544,807 (GRCm39) F330L possibly damaging Het
Dnah2 T G 11: 69,435,208 (GRCm39) D54A probably benign Het
Dntt A T 19: 41,044,197 (GRCm39) probably null Het
Eml2 A G 7: 18,925,620 (GRCm39) S240G probably benign Het
Fam174b G A 7: 73,416,371 (GRCm39) probably benign Het
Fancd2 T C 6: 113,512,762 (GRCm39) S33P possibly damaging Het
Fars2 A T 13: 36,430,402 (GRCm39) M277L probably benign Het
Ifnar1 G A 16: 91,302,150 (GRCm39) G542S probably benign Het
Itih5 T C 2: 10,191,831 (GRCm39) V122A probably benign Het
Jph3 A G 8: 122,516,201 (GRCm39) I740V probably benign Het
Krtap16-1 C T 11: 99,877,386 (GRCm39) C6Y probably benign Het
Mettl25b G A 3: 87,834,978 (GRCm39) H57Y probably benign Het
Mpeg1 A T 19: 12,440,014 (GRCm39) T491S probably benign Het
Mroh8 T A 2: 157,055,605 (GRCm39) I998L possibly damaging Het
Nrxn1 G A 17: 90,869,233 (GRCm39) Q124* probably null Het
Nup188 T A 2: 30,222,461 (GRCm39) S1028T possibly damaging Het
Nxf1 A T 19: 8,745,118 (GRCm39) H456L probably damaging Het
Or2aj6 T A 16: 19,443,743 (GRCm39) I36F possibly damaging Het
Or2n1d C A 17: 38,646,434 (GRCm39) P129T probably damaging Het
Or5af2 T A 11: 58,707,959 (GRCm39) S42T possibly damaging Het
Or5w19 T A 2: 87,698,543 (GRCm39) D69E probably damaging Het
Or6c66 T A 10: 129,461,820 (GRCm39) I37F possibly damaging Het
Otx2 T C 14: 48,896,227 (GRCm39) N277S probably damaging Het
Pgm2 T G 5: 64,261,159 (GRCm39) S218A probably benign Het
Plb1 T C 5: 32,521,402 (GRCm39) S1418P probably benign Het
Prkd3 T A 17: 79,292,751 (GRCm39) D107V probably damaging Het
Prl2a1 A G 13: 27,992,398 (GRCm39) E174G probably benign Het
Prr7 C T 13: 55,620,574 (GRCm39) P194L probably damaging Het
Psmd2 T C 16: 20,470,994 (GRCm39) S46P probably damaging Het
Ptbp2 C T 3: 119,541,258 (GRCm39) A231T possibly damaging Het
Rae1 A G 2: 172,854,016 (GRCm39) T265A probably benign Het
Sct T C 7: 140,859,007 (GRCm39) E2G unknown Het
Sec14l3 T G 11: 4,015,007 (GRCm39) probably null Het
Sfxn3 T A 19: 45,038,727 (GRCm39) N131K probably damaging Het
Slc18a2 A T 19: 59,282,326 (GRCm39) D511V probably benign Het
Slc20a2 T C 8: 23,025,457 (GRCm39) I53T probably damaging Het
Smad4 T C 18: 73,782,941 (GRCm39) D331G probably damaging Het
Srms C T 2: 180,848,050 (GRCm39) R485H Het
Szt2 C A 4: 118,242,630 (GRCm39) A1486S possibly damaging Het
Tmem87b C T 2: 128,684,615 (GRCm39) Q459* probably null Het
Vdr A T 15: 97,782,753 (GRCm39) I23N probably damaging Het
Vmn1r204 T C 13: 22,740,564 (GRCm39) V65A possibly damaging Het
Vps33b A G 7: 79,939,743 (GRCm39) D498G probably benign Het
Zfp442 T A 2: 150,250,093 (GRCm39) Y603F probably benign Het
Zfp853 T A 5: 143,275,320 (GRCm39) Q115L unknown Het
Zmiz2 C A 11: 6,348,271 (GRCm39) Q303K probably benign Het
Other mutations in Pax4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03150:Pax4 APN 6 28,444,338 (GRCm39) missense probably null 1.00
R0034:Pax4 UTSW 6 28,442,448 (GRCm39) missense probably benign
R1523:Pax4 UTSW 6 28,444,840 (GRCm39) missense probably damaging 1.00
R1828:Pax4 UTSW 6 28,443,446 (GRCm39) missense probably benign 0.02
R2014:Pax4 UTSW 6 28,446,209 (GRCm39) missense probably benign 0.01
R4037:Pax4 UTSW 6 28,443,882 (GRCm39) missense probably benign 0.00
R5117:Pax4 UTSW 6 28,446,278 (GRCm39) missense probably benign 0.43
R5163:Pax4 UTSW 6 28,446,269 (GRCm39) missense probably damaging 1.00
R5182:Pax4 UTSW 6 28,444,368 (GRCm39) missense probably benign 0.19
R5200:Pax4 UTSW 6 28,445,138 (GRCm39) missense probably damaging 1.00
R5713:Pax4 UTSW 6 28,446,184 (GRCm39) missense probably damaging 1.00
R5902:Pax4 UTSW 6 28,447,126 (GRCm39) missense probably benign 0.22
R6185:Pax4 UTSW 6 28,446,347 (GRCm39) missense probably damaging 1.00
R6744:Pax4 UTSW 6 28,442,396 (GRCm39) missense probably benign 0.00
R6923:Pax4 UTSW 6 28,447,118 (GRCm39) critical splice donor site probably null
R7054:Pax4 UTSW 6 28,446,322 (GRCm39) missense probably damaging 1.00
R7165:Pax4 UTSW 6 28,446,136 (GRCm39) missense probably damaging 1.00
R8133:Pax4 UTSW 6 28,442,513 (GRCm39) missense probably benign
R9438:Pax4 UTSW 6 28,446,185 (GRCm39) missense possibly damaging 0.94
Z1177:Pax4 UTSW 6 28,442,462 (GRCm39) missense possibly damaging 0.71
Z1177:Pax4 UTSW 6 28,442,459 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCCGTCTTCCCAAGGTC -3'
(R):5'- TACACTGAATAGCCAATGTCAAGG -3'

Sequencing Primer
(F):5'- GTCTTCCCAAGGTCAAGCC -3'
(R):5'- GGAACTTCATATCCCGCTAGC -3'
Posted On 2021-12-30