Incidental Mutation 'R2234:Pax8'
ID 239900
Institutional Source Beutler Lab
Gene Symbol Pax8
Ensembl Gene ENSMUSG00000026976
Gene Name paired box 8
Synonyms Pax-8
MMRRC Submission 040235-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2234 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24310572-24365611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24333114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 77 (I77T)
Ref Sequence ENSEMBL: ENSMUSP00000120319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153601] [ENSMUST00000153535]
AlphaFold Q00288
Predicted Effect possibly damaging
Transcript: ENSMUST00000028355
AA Change: I76T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: I76T

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 8e-5 SMART
low complexity region 311 328 N/A INTRINSIC
Pfam:Pax2_C 344 456 2.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135829
Predicted Effect probably damaging
Transcript: ENSMUST00000136228
AA Change: I77T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: I77T

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
SCOP:d1fjla_ 221 248 8e-5 SMART
low complexity region 312 329 N/A INTRINSIC
Pfam:Pax2_C 342 404 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149294
AA Change: I76T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: I76T

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153601
AA Change: I76T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: I76T

DomainStartEndE-ValueType
SCOP:d1ftt__ 23 49 1e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153535
AA Change: I77T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: I77T

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187034
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Akap8l C T 17: 32,557,777 (GRCm39) G37R probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cd81 T A 7: 142,620,056 (GRCm39) N71K probably benign Het
Cemip G T 7: 83,647,770 (GRCm39) D103E probably benign Het
Chfr A G 5: 110,318,729 (GRCm39) K580E probably damaging Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cpb1 A T 3: 20,329,629 (GRCm39) D32E probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Eml5 A C 12: 98,807,840 (GRCm39) D984E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hspa2 A G 12: 76,451,419 (GRCm39) T38A possibly damaging Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kalrn C A 16: 33,996,632 (GRCm39) probably null Het
Kmt2d T C 15: 98,763,129 (GRCm39) D240G probably damaging Het
Lrrc56 T A 7: 140,778,207 (GRCm39) D66E probably damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2d4 C A 7: 106,543,827 (GRCm39) C127F probably damaging Het
Or4c114 A G 2: 88,904,592 (GRCm39) L281P probably damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or7g19 A T 9: 18,856,112 (GRCm39) H56L probably damaging Het
Or8k39 A G 2: 86,563,921 (GRCm39) F12L possibly damaging Het
Paxbp1 T C 16: 90,831,822 (GRCm39) I355M probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Plec A T 15: 76,061,147 (GRCm39) I2952N probably damaging Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Ssc5d A G 7: 4,946,849 (GRCm39) T1068A probably benign Het
Stambp A G 6: 83,528,960 (GRCm39) S362P probably damaging Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xpnpep1 T G 19: 53,001,892 (GRCm39) D118A probably damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Other mutations in Pax8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Pax8 APN 2 24,333,144 (GRCm39) missense probably damaging 1.00
IGL01118:Pax8 APN 2 24,332,944 (GRCm39) splice site probably benign
IGL01141:Pax8 APN 2 24,331,162 (GRCm39) missense probably damaging 1.00
IGL01338:Pax8 APN 2 24,325,931 (GRCm39) missense possibly damaging 0.93
IGL01801:Pax8 APN 2 24,334,576 (GRCm39) critical splice donor site probably null
IGL02159:Pax8 APN 2 24,330,800 (GRCm39) missense possibly damaging 0.56
IGL02727:Pax8 APN 2 24,331,642 (GRCm39) missense probably damaging 0.98
IGL02887:Pax8 APN 2 24,334,627 (GRCm39) missense probably damaging 1.00
IGL03134:Pax8 UTSW 2 24,311,403 (GRCm39) unclassified probably benign
R1499:Pax8 UTSW 2 24,319,608 (GRCm39) missense possibly damaging 0.92
R1756:Pax8 UTSW 2 24,325,833 (GRCm39) missense probably damaging 0.98
R2051:Pax8 UTSW 2 24,326,520 (GRCm39) missense probably benign
R2289:Pax8 UTSW 2 24,330,752 (GRCm39) missense probably benign 0.00
R2306:Pax8 UTSW 2 24,333,057 (GRCm39) missense probably damaging 1.00
R4328:Pax8 UTSW 2 24,331,663 (GRCm39) missense possibly damaging 0.92
R4434:Pax8 UTSW 2 24,319,621 (GRCm39) missense possibly damaging 0.93
R4592:Pax8 UTSW 2 24,333,201 (GRCm39) intron probably benign
R4610:Pax8 UTSW 2 24,311,595 (GRCm39) missense probably damaging 0.99
R4873:Pax8 UTSW 2 24,331,652 (GRCm39) missense probably benign 0.04
R4875:Pax8 UTSW 2 24,331,652 (GRCm39) missense probably benign 0.04
R5394:Pax8 UTSW 2 24,332,922 (GRCm39) intron probably benign
R5924:Pax8 UTSW 2 24,311,634 (GRCm39) missense probably damaging 0.97
R6796:Pax8 UTSW 2 24,331,098 (GRCm39) missense probably benign 0.04
R7658:Pax8 UTSW 2 24,326,523 (GRCm39) missense probably benign 0.00
R7660:Pax8 UTSW 2 24,326,573 (GRCm39) missense probably benign
R7690:Pax8 UTSW 2 24,331,682 (GRCm39) missense probably benign 0.37
R7775:Pax8 UTSW 2 24,325,913 (GRCm39) missense possibly damaging 0.93
R7793:Pax8 UTSW 2 24,319,609 (GRCm39) missense possibly damaging 0.85
R7824:Pax8 UTSW 2 24,325,913 (GRCm39) missense possibly damaging 0.93
R7859:Pax8 UTSW 2 24,311,567 (GRCm39) missense possibly damaging 0.93
R8225:Pax8 UTSW 2 24,312,983 (GRCm39) missense probably damaging 0.99
R8520:Pax8 UTSW 2 24,333,034 (GRCm39) missense probably damaging 1.00
R9651:Pax8 UTSW 2 24,331,173 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCACCTGTTGATGGAGCTG -3'
(R):5'- GGCAGTAGCATACATCTACCC -3'

Sequencing Primer
(F):5'- ACCTGTTGATGGAGCTGACACTG -3'
(R):5'- CCCAAATACATGAATTCTTGGAGAG -3'
Posted On 2014-10-15