Incidental Mutation 'R0931:Irx2'
ID 80915
Institutional Source Beutler Lab
Gene Symbol Irx2
Ensembl Gene ENSMUSG00000001504
Gene Name Iroquois homeobox 2
Synonyms IRX6
MMRRC Submission 039075-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R0931 (G1)
Quality Score 115
Status Validated
Chromosome 13
Chromosomal Location 72776939-72782317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72779675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 320 (S320T)
Ref Sequence ENSEMBL: ENSMUSP00000073976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074372] [ENSMUST00000167067] [ENSMUST00000172353]
AlphaFold P81066
Predicted Effect possibly damaging
Transcript: ENSMUST00000074372
AA Change: S320T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: S320T

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 0.0807 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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
Adamtsl1 G A 4: 86,168,084 (GRCm39) A476T probably benign Het
Ajm1 T C 2: 25,468,501 (GRCm39) E470G possibly damaging Het
Aknad1 T C 3: 108,659,339 (GRCm39) S118P probably damaging Het
Arhgap20 A G 9: 51,728,041 (GRCm39) T85A probably benign Het
Astn2 A G 4: 65,566,530 (GRCm39) L824P probably damaging Het
Ccr1 C A 9: 123,763,827 (GRCm39) K234N probably damaging Het
Cfap46 T C 7: 139,235,757 (GRCm39) R203G probably damaging Het
Col8a1 A G 16: 57,448,931 (GRCm39) I193T unknown Het
Cpa2 T C 6: 30,552,070 (GRCm39) probably benign Het
Crabp1 T C 9: 54,675,717 (GRCm39) L100P possibly damaging Het
Cspp1 A T 1: 10,174,511 (GRCm39) R655W probably damaging Het
Ddx1 A T 12: 13,287,818 (GRCm39) probably benign Het
Dnah7b T G 1: 46,138,772 (GRCm39) probably benign Het
Dzip3 A G 16: 48,771,921 (GRCm39) S583P probably damaging Het
Exosc1 A G 19: 41,921,676 (GRCm39) probably benign Het
Fhip1a A G 3: 85,580,550 (GRCm39) S552P probably benign Het
Gas7 A T 11: 67,543,751 (GRCm39) probably benign Het
Gss A T 2: 155,409,609 (GRCm39) probably benign Het
Hdhd3 G A 4: 62,417,757 (GRCm39) R140* probably null Het
Kcnf1 T C 12: 17,225,142 (GRCm39) S360G possibly damaging Het
Klk1b4 T C 7: 43,860,480 (GRCm39) L166P probably damaging Het
Klri1 A T 6: 129,674,381 (GRCm39) probably benign Het
Mettl27 T C 5: 134,963,285 (GRCm39) probably benign Het
Myrfl T A 10: 116,675,354 (GRCm39) H193L probably benign Het
Nbas C T 12: 13,381,115 (GRCm39) probably benign Het
Or10ac1 C A 6: 42,515,020 (GRCm39) R312L probably benign Het
Or52b2 A T 7: 104,986,736 (GRCm39) Y62* probably null Het
Papolg A G 11: 23,832,257 (GRCm39) I177T probably damaging Het
Pdcd1 A G 1: 93,967,238 (GRCm39) V220A probably benign Het
Psmc1 T C 12: 100,085,341 (GRCm39) L234P probably damaging Het
Rasa2 A T 9: 96,434,457 (GRCm39) M610K possibly damaging Het
Ryr3 A G 2: 112,484,047 (GRCm39) F3930S probably damaging Het
Sacs G A 14: 61,440,944 (GRCm39) V997I probably benign Het
Setdb2 A G 14: 59,660,945 (GRCm39) probably benign Het
Ssu2 C A 6: 112,361,359 (GRCm39) L32F probably damaging Het
Taar1 A T 10: 23,797,181 (GRCm39) N293I probably damaging Het
Ttn A G 2: 76,611,846 (GRCm39) probably benign Het
Vmn2r49 T C 7: 9,720,325 (GRCm39) M389V possibly damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Zfp324 A G 7: 12,700,185 (GRCm39) I15V probably benign 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
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
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'- GTGCGAATCAGGCTCAGAGTGTAAG -3'
(R):5'- CTGTAGTGGGACTCCAGTGAATGC -3'

Sequencing Primer
(F):5'- CAGGCTCAGAGTGTAAGGACAAG -3'
(R):5'- TATTGTACCGCAGAAGGCCC -3'
Posted On 2013-11-07