Incidental Mutation 'R2844:Irx2'
ID 251453
Institutional Source Beutler Lab
Gene Symbol Irx2
Ensembl Gene ENSMUSG00000001504
Gene Name Iroquois homeobox 2
Synonyms IRX6
MMRRC Submission 040437-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R2844 (G1)
Quality Score 110
Status Validated
Chromosome 13
Chromosomal Location 72776939-72782317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72779709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 331 (K331R)
Ref Sequence ENSEMBL: ENSMUSP00000073976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074372] [ENSMUST00000167067] [ENSMUST00000172353]
AlphaFold P81066
Predicted Effect probably damaging
Transcript: ENSMUST00000074372
AA Change: K331R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: K331R

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
Meta Mutation Damage Score 0.1688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,843,830 (GRCm39) V175I probably benign Het
Abcb1a A T 5: 8,736,164 (GRCm39) I186F probably benign Het
Afg3l1 T C 8: 124,221,678 (GRCm39) probably benign Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Ccdc50 A G 16: 27,225,479 (GRCm39) E64G probably damaging Het
Celsr3 G T 9: 108,706,507 (GRCm39) G997W probably damaging Het
Chd8 C T 14: 52,441,952 (GRCm39) E2138K possibly damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Dnaaf11 A G 15: 66,319,525 (GRCm39) probably benign Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Fzr1 G T 10: 81,205,252 (GRCm39) T159K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gna13 T C 11: 109,253,951 (GRCm39) I51T probably damaging Het
Gorab A G 1: 163,224,375 (GRCm39) probably null Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Ints6 A G 14: 62,942,275 (GRCm39) V486A probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Med14 A T X: 12,550,235 (GRCm39) H684Q probably benign Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pde5a T C 3: 122,645,357 (GRCm39) L755P probably damaging Het
Pex14 A T 4: 149,047,968 (GRCm39) I203N probably benign Het
Pi4ka T C 16: 17,168,657 (GRCm39) E691G probably damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Pnoc A T 14: 65,642,284 (GRCm39) F160I probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Ppil6 A T 10: 41,377,689 (GRCm39) probably benign Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Psme4 T C 11: 30,795,173 (GRCm39) probably benign Het
Rfx3 T C 19: 27,784,186 (GRCm39) probably benign Het
Rnase11 A G 14: 51,287,227 (GRCm39) L109S probably damaging Het
Rngtt A G 4: 33,368,678 (GRCm39) T404A probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Sema5b A G 16: 35,480,301 (GRCm39) N656S probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Thbs1 C T 2: 117,948,109 (GRCm39) T423I probably benign Het
Ttc17 A T 2: 94,206,419 (GRCm39) Y243* probably null Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp648 A T 1: 154,080,881 (GRCm39) K347* probably null Het
Zfp84 T G 7: 29,474,758 (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
R1782:Irx2 UTSW 13 72,779,585 (GRCm39) missense probably benign 0.19
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'- GGACAAGTTTGAGGACCTGG -3'
(R):5'- GCTGCGTTTAAGTTCCCGTAG -3'

Sequencing Primer
(F):5'- TTTGAGGACCTGGAGGACG -3'
(R):5'- AGTTTGTGTAGTTGCCATAGAAAG -3'
Posted On 2014-12-04