Incidental Mutation 'R5902:Pax4'
ID 456376
Institutional Source Beutler Lab
Gene Symbol Pax4
Ensembl Gene ENSMUSG00000029706
Gene Name paired box 4
Synonyms Pax-4
MMRRC Submission 044100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5902 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 28442333-28449339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28447126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 3 (Q3K)
Ref Sequence ENSEMBL: ENSMUSP00000126000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]
AlphaFold P32115
Predicted Effect probably benign
Transcript: ENSMUST00000031718
AA Change: Q3K

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: Q3K

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164519
AA Change: Q3K

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: Q3K

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171089
AA Change: Q3K

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: Q3K

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174036
Predicted Effect probably benign
Transcript: ENSMUST00000174194
AA Change: Q3K

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: Q3K

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 139 190 2.22e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174423
Meta Mutation Damage Score 0.1109 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.1%
Validation Efficiency 99% (81/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,539,281 (GRCm39) M1V probably null Het
Abca13 T A 11: 9,247,177 (GRCm39) L2308H probably damaging Het
Abcc8 T C 7: 45,764,463 (GRCm39) T1161A probably benign Het
Acin1 T A 14: 54,901,130 (GRCm39) T659S probably benign Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Alkbh8 A G 9: 3,385,414 (GRCm39) K569E probably benign Het
Anxa3 A T 5: 96,960,712 (GRCm39) K39* probably null Het
Aoc2 A G 11: 101,220,072 (GRCm39) E659G probably damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU022252 T C 4: 119,084,101 (GRCm39) D104G probably benign Het
Car6 T C 4: 150,271,956 (GRCm39) Y231C possibly damaging Het
Cdh10 T G 15: 18,985,341 (GRCm39) probably null Het
Cebpz A C 17: 79,233,366 (GRCm39) M787R probably benign Het
Chst2 A G 9: 95,287,662 (GRCm39) L228P probably damaging Het
Clic4 T C 4: 134,999,869 (GRCm39) K11R probably benign Het
Col6a3 C T 1: 90,729,921 (GRCm39) probably null Het
Commd7 T A 2: 153,463,737 (GRCm39) T144S probably damaging Het
Ctla2a T A 13: 61,082,834 (GRCm39) *138Y probably null Het
Dhx33 A T 11: 70,879,957 (GRCm39) V351D probably damaging Het
Dnah9 G A 11: 65,916,013 (GRCm39) T2313I probably benign Het
Dspp A T 5: 104,325,977 (GRCm39) D780V unknown Het
Dync1li1 A G 9: 114,546,929 (GRCm39) probably null Het
E2f3 C T 13: 30,169,250 (GRCm39) probably benign Het
Fan1 T C 7: 64,023,070 (GRCm39) probably null Het
Gart A G 16: 91,425,415 (GRCm39) S617P probably damaging Het
Ggcx A G 6: 72,406,979 (GRCm39) N705S possibly damaging Het
Gm4841 A T 18: 60,403,868 (GRCm39) V75E probably damaging Het
Greb1l A G 18: 10,538,302 (GRCm39) E1105G probably benign Het
Hr C A 14: 70,795,231 (GRCm39) Q288K probably benign Het
Hus1 T C 11: 8,960,669 (GRCm39) probably benign Het
Ifi47 C A 11: 48,986,213 (GRCm39) probably null Het
Irf2bp1 T C 7: 18,738,372 (GRCm39) V4A probably benign Het
Kprp C T 3: 92,731,835 (GRCm39) C405Y unknown Het
Lacc1 T C 14: 77,272,239 (GRCm39) I186V possibly damaging Het
Lifr A G 15: 7,220,231 (GRCm39) T954A probably benign Het
Lonrf2 T C 1: 38,846,174 (GRCm39) M333V probably benign Het
Mthfd1 A T 12: 76,337,826 (GRCm39) H400L probably benign Het
Myh4 A G 11: 67,141,733 (GRCm39) K864R possibly damaging Het
Nup50 C T 15: 84,819,641 (GRCm39) A305V probably benign Het
Or4a74 T A 2: 89,439,595 (GRCm39) I284L probably damaging Het
Or4k44 C T 2: 111,367,739 (GRCm39) M298I probably benign Het
Pced1b T G 15: 97,282,970 (GRCm39) Y336* probably null Het
Postn C A 3: 54,279,510 (GRCm39) N329K probably benign Het
Prickle1 T C 15: 93,408,553 (GRCm39) E82G probably null Het
Prtn3 T C 10: 79,718,766 (GRCm39) Y241H probably damaging Het
Rasgrf2 A T 13: 92,068,011 (GRCm39) I260K probably damaging Het
Sh3glb1 T C 3: 144,418,431 (GRCm39) N44S possibly damaging Het
Sis A T 3: 72,867,589 (GRCm39) probably null Het
Slc4a9 A G 18: 36,662,386 (GRCm39) probably null Het
Slc4a9 A T 18: 36,664,560 (GRCm39) D406V probably damaging Het
Slc8a1 C T 17: 81,715,511 (GRCm39) G841R probably damaging Het
Smn1 C T 13: 100,263,412 (GRCm39) P60L probably benign Het
Snai1 G A 2: 167,383,930 (GRCm39) C241Y probably damaging Het
Spock3 A G 8: 63,808,336 (GRCm39) D411G unknown Het
Szt2 T A 4: 118,248,700 (GRCm39) T607S probably benign Het
Tcap A T 11: 98,274,673 (GRCm39) M1L probably benign Het
Tex29 A T 8: 11,905,723 (GRCm39) probably benign Het
Tex29 C A 8: 11,904,276 (GRCm39) probably benign Het
Tex29 C T 8: 11,904,277 (GRCm39) probably benign Het
Tln2 T C 9: 67,269,999 (GRCm39) T467A probably benign Het
Trim34a C T 7: 103,910,328 (GRCm39) Q377* probably null Het
Ube2q1 T A 3: 89,683,487 (GRCm39) L144* probably null Het
Vps13c A G 9: 67,841,729 (GRCm39) E1917G probably benign Het
Wdr19 T A 5: 65,384,482 (GRCm39) N525K probably benign Het
Wdr3 A T 3: 100,051,807 (GRCm39) probably benign Het
Wnt5b T A 6: 119,425,199 (GRCm39) H6L probably benign Het
Yju2 A G 17: 56,269,077 (GRCm39) T62A probably damaging Het
Zdbf2 T C 1: 63,345,685 (GRCm39) S1355P possibly damaging Het
Zfp11 T A 5: 129,734,976 (GRCm39) I162F probably damaging Het
Zpbp T C 11: 11,365,332 (GRCm39) T172A 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
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
R9110:Pax4 UTSW 6 28,445,201 (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'- TTTTCCAGGGTCCCCAGAAC -3'
(R):5'- TTTAGCGTTAGCCAGCCTAC -3'

Sequencing Primer
(F):5'- GGCTATCTCCTAATCCAATAGGTAGC -3'
(R):5'- GTTAGCCAGCCTACAGACAC -3'
Posted On 2017-02-15