Incidental Mutation 'R7102:Pax6'
ID 550881
Institutional Source Beutler Lab
Gene Symbol Pax6
Ensembl Gene ENSMUSG00000027168
Gene Name paired box 6
Synonyms Pax-6, Dickie's small eye, Gsfaey11, 1500038E17Rik, Dey, AEY11
MMRRC Submission 045194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7102 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 105499245-105527709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105522604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 264 (P264T)
Ref Sequence ENSEMBL: ENSMUSP00000087870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090391] [ENSMUST00000090397] [ENSMUST00000111082] [ENSMUST00000111083] [ENSMUST00000111085] [ENSMUST00000111086] [ENSMUST00000111087] [ENSMUST00000111088] [ENSMUST00000167211]
AlphaFold P63015
Predicted Effect probably damaging
Transcript: ENSMUST00000090391
AA Change: P264T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087870
Gene: ENSMUSG00000027168
AA Change: P264T

DomainStartEndE-ValueType
PAX 4 142 7.36e-86 SMART
low complexity region 188 199 N/A INTRINSIC
HOX 224 286 4.93e-26 SMART
low complexity region 295 308 N/A INTRINSIC
low complexity region 401 409 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090397
AA Change: P250T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087878
Gene: ENSMUSG00000027168
AA Change: P250T

DomainStartEndE-ValueType
PAX 4 128 6.11e-92 SMART
low complexity region 174 185 N/A INTRINSIC
HOX 210 272 4.93e-26 SMART
low complexity region 281 294 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111082
AA Change: P250T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106711
Gene: ENSMUSG00000027168
AA Change: P250T

DomainStartEndE-ValueType
PAX 4 128 6.11e-92 SMART
low complexity region 174 185 N/A INTRINSIC
HOX 210 272 4.93e-26 SMART
low complexity region 281 294 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111083
AA Change: P250T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106712
Gene: ENSMUSG00000027168
AA Change: P250T

DomainStartEndE-ValueType
PAX 4 128 6.11e-92 SMART
low complexity region 174 185 N/A INTRINSIC
HOX 210 272 4.93e-26 SMART
low complexity region 281 294 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111085
AA Change: P264T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106714
Gene: ENSMUSG00000027168
AA Change: P264T

DomainStartEndE-ValueType
PAX 4 142 7.36e-86 SMART
low complexity region 188 199 N/A INTRINSIC
HOX 224 286 4.93e-26 SMART
low complexity region 295 308 N/A INTRINSIC
low complexity region 401 409 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111086
AA Change: P264T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106715
Gene: ENSMUSG00000027168
AA Change: P264T

DomainStartEndE-ValueType
PAX 4 142 7.36e-86 SMART
low complexity region 188 199 N/A INTRINSIC
HOX 224 286 4.93e-26 SMART
low complexity region 295 308 N/A INTRINSIC
low complexity region 401 409 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111087
AA Change: P250T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106716
Gene: ENSMUSG00000027168
AA Change: P250T

DomainStartEndE-ValueType
PAX 4 128 6.11e-92 SMART
low complexity region 174 185 N/A INTRINSIC
HOX 210 272 4.93e-26 SMART
low complexity region 281 294 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111088
AA Change: P79T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106717
Gene: ENSMUSG00000027168
AA Change: P79T

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
HOX 39 101 4.93e-26 SMART
low complexity region 110 123 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167211
AA Change: P264T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129344
Gene: ENSMUSG00000027168
AA Change: P264T

DomainStartEndE-ValueType
PAX 4 142 7.36e-86 SMART
low complexity region 188 199 N/A INTRINSIC
HOX 224 286 4.93e-26 SMART
low complexity region 295 308 N/A INTRINSIC
low complexity region 401 409 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,215 (GRCm39) H3283L probably damaging Het
Abcb1a T G 5: 8,744,072 (GRCm39) S233A probably benign Het
Actr10 T C 12: 70,999,805 (GRCm39) probably null Het
Acvr2b C T 9: 119,261,619 (GRCm39) A380V probably damaging Het
Adcy5 A G 16: 35,119,995 (GRCm39) E1168G probably damaging Het
Akap12 C T 10: 4,303,226 (GRCm39) T117I probably damaging Het
Alox5 T A 6: 116,390,429 (GRCm39) Y516F probably benign Het
Amigo2 T C 15: 97,143,741 (GRCm39) N227S probably damaging Het
Anpep C A 7: 79,486,061 (GRCm39) V554L probably benign Het
Ap5b1 T A 19: 5,620,215 (GRCm39) V545E possibly damaging Het
Bbs9 C T 9: 22,490,849 (GRCm39) L326F probably damaging Het
Bltp1 T G 3: 36,994,947 (GRCm39) Y990D probably damaging Het
Cadps C T 14: 12,603,738 (GRCm38) G361R probably damaging Het
Ccdc57 C A 11: 120,812,557 (GRCm39) E66* probably null Het
Ccr6 G A 17: 8,475,019 (GRCm39) V75I probably benign Het
Cdk6 T C 5: 3,570,709 (GRCm39) F300S probably damaging Het
Cenpb A C 2: 131,020,799 (GRCm39) V333G probably damaging Het
Clca4a T C 3: 144,667,670 (GRCm39) I434V probably benign Het
Coro2b T A 9: 62,328,667 (GRCm39) D447V possibly damaging Het
Cpeb3 T C 19: 37,152,119 (GRCm39) S86G probably benign Het
Cry2 C A 2: 92,243,438 (GRCm39) A468S probably damaging Het
Csf2rb2 T C 15: 78,181,272 (GRCm39) Y40C probably damaging Het
Ddx49 T A 8: 70,753,726 (GRCm39) T48S probably damaging Het
Dennd10 T A 19: 60,821,034 (GRCm39) M272K probably damaging Het
Dip2c A G 13: 9,654,572 (GRCm39) T727A probably benign Het
Dnai3 A T 3: 145,761,459 (GRCm39) S632R possibly damaging Het
Ebf4 A T 2: 130,151,651 (GRCm39) I183F probably benign Het
Elavl3 G T 9: 21,930,025 (GRCm39) P293Q possibly damaging Het
Esyt1 A T 10: 128,352,105 (GRCm39) L768Q probably damaging Het
Fat2 G A 11: 55,174,260 (GRCm39) P2151L probably damaging Het
Fgfbp3 G T 19: 36,896,606 (GRCm39) A4E possibly damaging Het
Flg T A 3: 93,200,335 (GRCm39) V277D unknown Het
Fndc3b T C 3: 27,524,383 (GRCm39) D459G possibly damaging Het
Fras1 A G 5: 96,718,900 (GRCm39) Q438R probably benign Het
Glipr1l2 A T 10: 111,928,330 (GRCm39) probably null Het
Gm7347 T A 5: 26,262,382 (GRCm39) probably null Het
Grm6 G A 11: 50,753,804 (GRCm39) V703I possibly damaging Het
Gtf2h1 T A 7: 46,468,550 (GRCm39) V496E probably benign Het
Ifna12 A G 4: 88,521,388 (GRCm39) L53P probably damaging Het
Invs T A 4: 48,407,674 (GRCm39) S550T probably benign Het
Irak2 G T 6: 113,663,810 (GRCm39) C453F probably damaging Het
Itih2 G T 2: 10,110,574 (GRCm39) Q506K probably benign Het
Kidins220 T C 12: 25,107,662 (GRCm39) I1614T probably benign Het
Krtap5-3 T A 7: 141,755,992 (GRCm39) C276* probably null Het
Lama3 T A 18: 12,685,870 (GRCm39) M1128K possibly damaging Het
Lhfpl4 C T 6: 113,171,106 (GRCm39) A27T possibly damaging Het
Lyplal1 A G 1: 185,832,524 (GRCm39) V77A probably damaging Het
Malrd1 A T 2: 16,147,114 (GRCm39) E1985D unknown Het
Mlx A C 11: 100,979,802 (GRCm39) Q161P probably benign Het
Mroh2b T A 15: 4,977,485 (GRCm39) M1279K probably benign Het
Myh7b A G 2: 155,464,119 (GRCm39) E540G probably damaging Het
Neb T A 2: 52,194,067 (GRCm39) D653V probably damaging Het
Nek10 T A 14: 14,828,517 (GRCm38) L113Q probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l T A 19: 5,553,623 (GRCm39) T53S probably benign Het
Ntpcr T A 8: 126,456,794 (GRCm39) C5S unknown Het
Nwd1 A G 8: 73,421,957 (GRCm39) D1001G probably damaging Het
Or12j5 T A 7: 140,084,229 (GRCm39) T48S probably benign Het
Or14a256 C T 7: 86,265,475 (GRCm39) C126Y probably benign Het
Or4p22 T A 2: 88,317,492 (GRCm39) C139S probably damaging Het
Or6c208 A C 10: 129,224,036 (GRCm39) D178A probably damaging Het
Osbpl3 T A 6: 50,297,115 (GRCm39) S564C probably damaging Het
Plppr4 T C 3: 117,116,832 (GRCm39) R342G probably damaging Het
Prg4 C T 1: 150,328,005 (GRCm39) C220Y probably damaging Het
Prune2 T A 19: 17,098,577 (GRCm39) D1360E probably benign Het
Ranbp2 T A 10: 58,299,772 (GRCm39) S469T probably damaging Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Rgs22 T C 15: 36,122,459 (GRCm39) D25G probably damaging Het
Rnf113a2 G A 12: 84,464,545 (GRCm39) G146S probably damaging Het
Sbpl T A 17: 24,173,608 (GRCm39) K55* probably null Het
Scel G A 14: 103,781,268 (GRCm39) W138* probably null Het
Scgb2b19 T C 7: 32,979,711 (GRCm39) I12V probably null Het
Scn9a T A 2: 66,379,359 (GRCm39) M358L probably damaging Het
Sdk2 C A 11: 113,733,516 (GRCm39) E924* probably null Het
Sipa1l3 T C 7: 29,048,012 (GRCm39) Q1292R possibly damaging Het
Skint4 G A 4: 111,975,298 (GRCm39) G86D probably damaging Het
Slc28a3 C T 13: 58,736,028 (GRCm39) V57I probably benign Het
Slc9a4 T C 1: 40,662,559 (GRCm39) S609P probably damaging Het
Slc9a4 C T 1: 40,619,799 (GRCm39) P42S probably benign Het
Slitrk1 T A 14: 109,150,061 (GRCm39) T217S probably benign Het
Spindoc C T 19: 7,335,807 (GRCm39) R327H probably benign Het
Stk36 T C 1: 74,661,382 (GRCm39) S470P probably benign Het
Sypl1 C T 12: 33,024,254 (GRCm39) P196L probably benign Het
Tekt4 T A 17: 25,693,718 (GRCm39) I285N probably damaging Het
Tgm5 T A 2: 120,876,979 (GRCm39) I686F possibly damaging Het
Thsd4 C A 9: 59,883,587 (GRCm39) R933L probably damaging Het
Treml1 T A 17: 48,673,700 (GRCm39) I237N probably damaging Het
Txndc16 T C 14: 45,442,839 (GRCm39) I119V probably benign Het
Ubr3 C A 2: 69,728,166 (GRCm39) N176K probably damaging Het
Vit A G 17: 78,932,426 (GRCm39) Y511C probably damaging Het
Vwa5b2 G A 16: 20,422,984 (GRCm39) G994D probably benign Het
Wnk1 T C 6: 119,925,268 (GRCm39) T1648A unknown Het
Ythdf1 G A 2: 180,553,315 (GRCm39) T300I probably damaging Het
Zan A G 5: 137,452,462 (GRCm39) probably null Het
Zbbx A G 3: 75,019,401 (GRCm39) L103P probably benign Het
Zfp105 A G 9: 122,758,869 (GRCm39) D180G probably damaging Het
Zfp114 T A 7: 23,880,083 (GRCm39) L144Q possibly damaging Het
Zfp128 T C 7: 12,624,399 (GRCm39) C256R probably damaging Het
Other mutations in Pax6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Pax6 APN 2 105,522,623 (GRCm39) critical splice donor site probably null
IGL02256:Pax6 APN 2 105,515,115 (GRCm39) missense probably benign 0.16
IGL02500:Pax6 APN 2 105,523,115 (GRCm39) missense probably benign 0.13
beady UTSW 2 105,522,036 (GRCm39) missense probably damaging 1.00
red_hots UTSW 2 105,525,705 (GRCm39) missense probably benign 0.00
G1citation:Pax6 UTSW 2 105,516,268 (GRCm39) missense probably benign 0.04
R1067:Pax6 UTSW 2 105,510,646 (GRCm39) missense probably benign 0.01
R1213:Pax6 UTSW 2 105,516,258 (GRCm39) missense probably benign 0.13
R1494:Pax6 UTSW 2 105,521,955 (GRCm39) missense probably benign 0.16
R1633:Pax6 UTSW 2 105,522,063 (GRCm39) missense probably damaging 1.00
R2291:Pax6 UTSW 2 105,516,228 (GRCm39) missense probably benign 0.09
R3834:Pax6 UTSW 2 105,526,795 (GRCm39) missense probably benign 0.00
R3835:Pax6 UTSW 2 105,526,795 (GRCm39) missense probably benign 0.00
R4665:Pax6 UTSW 2 105,514,343 (GRCm39) intron probably benign
R4714:Pax6 UTSW 2 105,525,745 (GRCm39) missense possibly damaging 0.74
R4747:Pax6 UTSW 2 105,526,847 (GRCm39) missense probably benign
R4764:Pax6 UTSW 2 105,526,847 (GRCm39) missense probably benign
R4767:Pax6 UTSW 2 105,525,705 (GRCm39) missense probably benign 0.00
R4771:Pax6 UTSW 2 105,526,847 (GRCm39) missense probably benign
R4772:Pax6 UTSW 2 105,526,847 (GRCm39) missense probably benign
R4816:Pax6 UTSW 2 105,514,129 (GRCm39) intron probably benign
R4819:Pax6 UTSW 2 105,522,622 (GRCm39) critical splice donor site probably null
R5418:Pax6 UTSW 2 105,521,910 (GRCm39) missense probably benign 0.00
R5683:Pax6 UTSW 2 105,516,252 (GRCm39) missense probably benign 0.06
R6041:Pax6 UTSW 2 105,514,247 (GRCm39) missense probably damaging 1.00
R6263:Pax6 UTSW 2 105,523,199 (GRCm39) critical splice donor site probably null
R6651:Pax6 UTSW 2 105,516,175 (GRCm39) missense probably benign 0.00
R6822:Pax6 UTSW 2 105,516,268 (GRCm39) missense probably benign 0.04
R7042:Pax6 UTSW 2 105,526,718 (GRCm39) missense probably benign
R7088:Pax6 UTSW 2 105,526,753 (GRCm39) missense probably benign 0.00
R7294:Pax6 UTSW 2 105,515,246 (GRCm39) nonsense probably null
R7761:Pax6 UTSW 2 105,522,036 (GRCm39) missense probably damaging 1.00
R7948:Pax6 UTSW 2 105,516,222 (GRCm39) missense probably benign
R8882:Pax6 UTSW 2 105,521,963 (GRCm39) missense possibly damaging 0.96
R9151:Pax6 UTSW 2 105,523,097 (GRCm39) missense probably benign 0.10
R9796:Pax6 UTSW 2 105,522,541 (GRCm39) missense probably damaging 1.00
Z1177:Pax6 UTSW 2 105,516,161 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- GCACACTGTCAAGCTGTCTG -3'
(R):5'- TACCTGGAAATGCACAGAACAG -3'

Sequencing Primer
(F):5'- CACACTGTCAAGCTGTCTGATTGG -3'
(R):5'- TGCACAGAACAGGTTAGCCCTATG -3'
Posted On 2019-05-15