Incidental Mutation 'R1782:Irx2'
ID 195422
Institutional Source Beutler Lab
Gene Symbol Irx2
Ensembl Gene ENSMUSG00000001504
Gene Name Iroquois homeobox 2
Synonyms IRX6
MMRRC Submission 039813-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R1782 (G1)
Quality Score 123
Status Not validated
Chromosome 13
Chromosomal Location 72776939-72782317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72779585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 290 (T290A)
Ref Sequence ENSEMBL: ENSMUSP00000073976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074372] [ENSMUST00000167067] [ENSMUST00000172353]
AlphaFold P81066
Predicted Effect probably benign
Transcript: ENSMUST00000074372
AA Change: T290A

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: T290A

DomainStartEndE-ValueType
low complexity region 51 64 N/A INTRINSIC
low complexity region 70 78 N/A INTRINSIC
HOX 115 180 1.14e-12 SMART
low complexity region 188 196 N/A INTRINSIC
low complexity region 256 278 N/A INTRINSIC
low complexity region 293 305 N/A INTRINSIC
IRO 325 342 2.28e-5 SMART
low complexity region 346 382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163393
Predicted Effect probably benign
Transcript: ENSMUST00000167067
SMART Domains Protein: ENSMUSP00000127963
Gene: ENSMUSG00000001504

DomainStartEndE-ValueType
HOX 21 86 1.14e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169028
Predicted Effect probably benign
Transcript: ENSMUST00000172353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177421
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,971 (GRCm39) T2573S probably benign Het
Adgra3 G T 5: 50,129,404 (GRCm39) T738K probably benign Het
Adgrl4 C T 3: 151,248,442 (GRCm39) Q705* probably null Het
Atp2b1 T G 10: 98,839,063 (GRCm39) D630E probably benign Het
Atp2c1 G A 9: 105,308,786 (GRCm39) R577C probably damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
C8g T A 2: 25,389,094 (GRCm39) D163V possibly damaging Het
Catsper1 T C 19: 5,385,937 (GRCm39) Y57H probably benign Het
Ccdc25 C T 14: 66,091,597 (GRCm39) A72V probably benign Het
Cdca2 T G 14: 67,915,260 (GRCm39) E666D probably benign Het
Cdh23 G A 10: 60,324,321 (GRCm39) T313I probably damaging Het
Cfap57 C A 4: 118,472,172 (GRCm39) R69L probably damaging Het
Chat C A 14: 32,130,944 (GRCm39) V566L probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Cog1 A G 11: 113,544,792 (GRCm39) T325A probably benign Het
Cxcl10 A G 5: 92,495,662 (GRCm39) *94Q probably null Het
Cyp4a12b T C 4: 115,291,178 (GRCm39) Y369H probably damaging Het
Dhx33 T C 11: 70,892,466 (GRCm39) Y101C probably damaging Het
Dock6 A G 9: 21,723,142 (GRCm39) M1593T probably damaging Het
Dpy19l3 T C 7: 35,407,580 (GRCm39) T488A possibly damaging Het
Elapor2 A T 5: 9,471,620 (GRCm39) K320N possibly damaging Het
Fbxw14 A G 9: 109,107,759 (GRCm39) I205T possibly damaging Het
Fbxw7 T C 3: 84,811,126 (GRCm39) F84L probably benign Het
Flii T C 11: 60,605,462 (GRCm39) T1212A probably benign Het
Fosl1 T A 19: 5,500,210 (GRCm39) I43N probably damaging Het
Gabrr2 G A 4: 33,085,593 (GRCm39) A338T probably damaging Het
Gask1b T C 3: 79,793,838 (GRCm39) L102S possibly damaging Het
Gatad2b T C 3: 90,249,178 (GRCm39) V72A probably benign Het
Gorasp1 G T 9: 119,761,888 (GRCm39) N48K probably damaging Het
Gramd1b C A 9: 40,324,633 (GRCm39) D139Y probably damaging Het
Gtf3c1 A T 7: 125,266,246 (GRCm39) V1030E probably damaging Het
Havcr2 C T 11: 46,345,844 (GRCm39) T6I unknown Het
Hgs A G 11: 120,369,331 (GRCm39) E340G probably damaging Het
Itgb8 T A 12: 119,155,853 (GRCm39) I200F probably damaging Het
Josd2 A G 7: 44,120,577 (GRCm39) I105V probably damaging Het
Kcnh7 T A 2: 62,566,513 (GRCm39) D806V probably damaging Het
Kctd8 A G 5: 69,498,319 (GRCm39) V109A possibly damaging Het
Kmt2d T A 15: 98,755,429 (GRCm39) probably benign Het
Krtap2-4 A T 11: 99,505,353 (GRCm39) V86E probably damaging Het
Lgr6 C G 1: 134,915,717 (GRCm39) V344L probably damaging Het
Lime1 A T 2: 181,024,849 (GRCm39) R168W possibly damaging Het
Macroh2a1 A T 13: 56,222,134 (GRCm39) M339K probably damaging Het
Magel2 C T 7: 62,030,605 (GRCm39) Q1170* probably null Het
Ndufaf3 A T 9: 108,443,210 (GRCm39) I169N probably damaging Het
Neb T A 2: 52,174,357 (GRCm39) K1501* probably null Het
Nim1k A T 13: 120,173,687 (GRCm39) S402R probably benign Het
Nt5dc2 T G 14: 30,860,158 (GRCm39) S395R probably damaging Het
Oaz2 G T 9: 65,596,143 (GRCm39) V132L probably benign Het
Or2t45 T A 11: 58,669,631 (GRCm39) L226H probably damaging Het
Or4l1 A T 14: 50,166,096 (GRCm39) W302R probably benign Het
Or5b104 T A 19: 13,072,167 (GRCm39) I282F probably damaging Het
Or7g25 C T 9: 19,159,877 (GRCm39) V273I probably benign Het
Or8k39 T C 2: 86,563,026 (GRCm39) K310R probably benign Het
Pfkl A G 10: 77,824,554 (GRCm39) V717A probably benign Het
Phf8-ps T C 17: 33,286,662 (GRCm39) I47V probably benign Het
Phgdh C T 3: 98,228,063 (GRCm39) V231I probably damaging Het
Pkhd1 A T 1: 20,635,935 (GRCm39) M465K probably damaging Het
Ppp3r1 A G 11: 17,148,281 (GRCm39) H163R probably benign Het
Prune2 T A 19: 17,099,537 (GRCm39) N1680K probably benign Het
Puf60 T A 15: 75,943,724 (GRCm39) I216L probably benign Het
Rev3l T A 10: 39,675,881 (GRCm39) N190K probably benign Het
Rp1 G A 1: 4,419,312 (GRCm39) S600L probably benign Het
Rpl3l A G 17: 24,952,430 (GRCm39) I217V probably benign Het
Scly T A 1: 91,236,102 (GRCm39) V194D probably damaging Het
Scnn1b A G 7: 121,517,184 (GRCm39) T607A probably benign Het
Slc13a3 G A 2: 165,287,439 (GRCm39) L172F probably benign Het
Sorbs2 A G 8: 46,258,733 (GRCm39) Y1090C probably damaging Het
Spag17 T A 3: 99,918,070 (GRCm39) M351K probably benign Het
St14 A G 9: 31,011,460 (GRCm39) Y444H probably damaging Het
Taf8 C A 17: 47,809,136 (GRCm39) A109S probably benign Het
Tbc1d30 T A 10: 121,103,525 (GRCm39) K502N probably damaging Het
Them5 T C 3: 94,251,796 (GRCm39) S136P probably benign Het
Tmem248 T A 5: 130,260,769 (GRCm39) N111K probably damaging Het
Tmem74 C A 15: 43,730,348 (GRCm39) V232L probably damaging Het
Tnip2 A T 5: 34,657,012 (GRCm39) H264Q probably benign Het
Trim5 A G 7: 103,915,023 (GRCm39) probably null Het
Trim63 A G 4: 134,050,349 (GRCm39) Q211R probably benign Het
Trrap T C 5: 144,759,513 (GRCm39) V2231A possibly damaging Het
Ttn T C 2: 76,565,831 (GRCm39) S28174G probably benign Het
Ugt2b36 T C 5: 87,229,440 (GRCm39) D341G possibly damaging Het
Uroc1 G A 6: 90,313,901 (GRCm39) E63K probably damaging Het
Ush2a T C 1: 188,643,382 (GRCm39) V4248A probably benign Het
Usp1 A G 4: 98,822,435 (GRCm39) H583R probably damaging Het
Usp8 T A 2: 126,561,971 (GRCm39) F55Y probably damaging Het
Vmn2r13 T A 5: 109,306,040 (GRCm39) T513S probably benign Het
Wdr73 T C 7: 80,541,526 (GRCm39) T339A probably damaging Het
Wnt2 T A 6: 18,008,639 (GRCm39) N266I possibly damaging Het
Wwp2 AGAACT A 8: 108,233,031 (GRCm39) probably null Het
Other mutations in Irx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02749:Irx2 APN 13 72,779,429 (GRCm39) missense probably damaging 1.00
R0647:Irx2 UTSW 13 72,778,799 (GRCm39) missense probably damaging 1.00
R0783:Irx2 UTSW 13 72,780,769 (GRCm39) critical splice donor site probably null
R0931:Irx2 UTSW 13 72,779,675 (GRCm39) missense possibly damaging 0.71
R0932:Irx2 UTSW 13 72,779,675 (GRCm39) missense possibly damaging 0.71
R2844:Irx2 UTSW 13 72,779,709 (GRCm39) missense probably damaging 1.00
R4656:Irx2 UTSW 13 72,779,417 (GRCm39) missense probably damaging 1.00
R4963:Irx2 UTSW 13 72,780,729 (GRCm39) missense possibly damaging 0.71
R5219:Irx2 UTSW 13 72,779,420 (GRCm39) missense probably damaging 1.00
R5523:Irx2 UTSW 13 72,779,714 (GRCm39) missense probably damaging 1.00
R6663:Irx2 UTSW 13 72,777,248 (GRCm39) missense probably damaging 1.00
R7311:Irx2 UTSW 13 72,779,396 (GRCm39) missense probably damaging 0.98
R7411:Irx2 UTSW 13 72,777,182 (GRCm39) start codon destroyed probably null 0.99
R7487:Irx2 UTSW 13 72,778,739 (GRCm39) missense probably damaging 1.00
R7506:Irx2 UTSW 13 72,777,328 (GRCm39) missense probably damaging 1.00
R7792:Irx2 UTSW 13 72,779,493 (GRCm39) missense possibly damaging 0.88
R7953:Irx2 UTSW 13 72,777,343 (GRCm39) missense probably benign 0.02
R9083:Irx2 UTSW 13 72,777,392 (GRCm39) missense possibly damaging 0.94
Z1177:Irx2 UTSW 13 72,777,208 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTGGGCCGCATTTAATGCTG -3'
(R):5'- TTTGTGTAGTTGCCATAGAAAGGGGAC -3'

Sequencing Primer
(F):5'- TCAGGGATCAGTCTACACGTC -3'
(R):5'- TAATAGAGGTGGCGGCCC -3'
Posted On 2014-05-23