Incidental Mutation 'R4328:Pax8'
ID 324452
Institutional Source Beutler Lab
Gene Symbol Pax8
Ensembl Gene ENSMUSG00000026976
Gene Name paired box 8
Synonyms Pax-8
MMRRC Submission 041098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4328 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 24310572-24365611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24331663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 140 (F140S)
Ref Sequence ENSEMBL: ENSMUSP00000028355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153535] [ENSMUST00000153601]
AlphaFold Q00288
Predicted Effect possibly damaging
Transcript: ENSMUST00000028355
AA Change: F140S

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: F140S

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 benign
Transcript: ENSMUST00000136228
AA Change: F141S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: F141S

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 benign
Transcript: ENSMUST00000149294
AA Change: F140S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: F140S

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153535
AA Change: F141S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: F141S

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153601
AA Change: F140S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: F140S

DomainStartEndE-ValueType
SCOP:d1ftt__ 23 49 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187034
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik T C 9: 63,306,238 (GRCm39) K89R probably damaging Het
Aadacl4fm2 T A 4: 144,282,164 (GRCm39) K209N possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Bin3 A G 14: 70,356,054 (GRCm39) I4V probably benign Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cd55 C T 1: 130,375,104 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Col12a1 T A 9: 79,607,671 (GRCm39) T386S possibly damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Crym C T 7: 119,794,562 (GRCm39) G219E probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Eif1ad16 T A 12: 87,985,285 (GRCm39) D86V possibly damaging Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Gm3336 C T 8: 71,173,234 (GRCm39) T82I probably benign Het
Gm3604 A T 13: 62,517,079 (GRCm39) S425R possibly damaging Het
Gpn2 T C 4: 133,315,919 (GRCm39) V203A probably benign Het
Gskip T C 12: 105,666,960 (GRCm39) Y113H probably damaging Het
Hcn2 T C 10: 79,560,445 (GRCm39) Y259H probably damaging Het
Hira C A 16: 18,715,362 (GRCm39) Q87K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kirrel1 T C 3: 86,992,081 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Ly6e C A 15: 74,830,370 (GRCm39) N73K probably damaging Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Med24 A G 11: 98,597,942 (GRCm39) probably null Het
Niban1 T C 1: 151,512,169 (GRCm39) S24P possibly damaging Het
Nup210l C A 3: 90,083,142 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or5w12 C A 2: 87,502,008 (GRCm39) R234S possibly damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Or8d1 T C 9: 38,767,132 (GRCm39) M258T possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Ppargc1b A T 18: 61,515,540 (GRCm39) C34* probably null Het
Ppp3cb A T 14: 20,581,016 (GRCm39) I136K probably damaging Het
Prep T C 10: 44,996,745 (GRCm39) V341A probably benign Het
Prickle4 C A 17: 47,999,543 (GRCm39) G337C probably damaging Het
Rabgap1 T A 2: 37,422,627 (GRCm39) Y627N probably damaging Het
Ryr1 T C 7: 28,782,484 (GRCm39) Y1953C probably damaging Het
Snrnp200 T A 2: 127,064,137 (GRCm39) V708D probably damaging Het
Tent5b C T 4: 133,213,914 (GRCm39) Q262* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Twsg1 T C 17: 66,255,733 (GRCm39) T14A probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp239 T C 6: 117,848,745 (GRCm39) L161P probably damaging Het
Zpbp2 A G 11: 98,448,432 (GRCm39) T199A probably benign 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
R2234:Pax8 UTSW 2 24,333,114 (GRCm39) missense probably damaging 1.00
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
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'- GCCTCAGGGTAAAAGCTCAGTC -3'
(R):5'- ACGAGGTAAGGCCAGTTTGAC -3'

Sequencing Primer
(F):5'- GCTCAGTCCATGTACAGGCATATG -3'
(R):5'- GGCCAGTTTGACAGTAAACTC -3'
Posted On 2015-06-24