Incidental Mutation 'R6533:Barx2'
ID 520199
Institutional Source Beutler Lab
Gene Symbol Barx2
Ensembl Gene ENSMUSG00000032033
Gene Name BarH-like homeobox 2
Synonyms 2310006E12Rik, Barx2b
MMRRC Submission 044659-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.680) question?
Stock # R6533 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 31757340-31824581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31824275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 38 (Y38C)
Ref Sequence ENSEMBL: ENSMUSP00000112314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116615]
AlphaFold O08686
Predicted Effect probably damaging
Transcript: ENSMUST00000116615
AA Change: Y38C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: Y38C

DomainStartEndE-ValueType
low complexity region 103 113 N/A INTRINSIC
HOX 137 199 3.2e-25 SMART
low complexity region 230 246 N/A INTRINSIC
low complexity region 268 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216981
Meta Mutation Damage Score 0.2343 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted gene deletion exhibit short whiskers at birth, defective juvenile hair follicle remodeling, and short adult hair. Fifty percent of homozygotes are born with open eyelids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik C T 2: 173,561,628 (GRCm39) probably benign Het
4932414N04Rik G T 2: 68,546,662 (GRCm39) E115* probably null Het
Abhd16a G A 17: 35,317,785 (GRCm39) probably null Het
Ankrd28 T A 14: 31,454,041 (GRCm39) I244L possibly damaging Het
Btn2a2 C A 13: 23,665,951 (GRCm39) E294* probably null Het
Ceacam2 C G 7: 25,230,136 (GRCm39) V157L probably benign Het
Ces2c T A 8: 105,578,725 (GRCm39) F334L possibly damaging Het
Col7a1 T C 9: 108,790,426 (GRCm39) I958T unknown Het
Dcp2 T A 18: 44,532,731 (GRCm39) D82E probably benign Het
Dnah8 T C 17: 30,965,964 (GRCm39) L2432S probably damaging Het
Dst A G 1: 34,342,590 (GRCm39) D7582G probably benign Het
Fat3 T A 9: 15,910,195 (GRCm39) I1936L probably benign Het
Gsdmc4 T A 15: 63,763,909 (GRCm39) N396I probably damaging Het
Lonrf2 A C 1: 38,852,349 (GRCm39) D167E probably benign Het
Marf1 T C 16: 13,933,663 (GRCm39) D1575G probably benign Het
Med23 T C 10: 24,769,518 (GRCm39) L101P probably damaging Het
Myh3 A G 11: 66,981,245 (GRCm39) I703V probably damaging Het
Ncan G A 8: 70,549,007 (GRCm39) A1257V probably benign Het
Nipal4 A T 11: 46,041,234 (GRCm39) Y320* probably null Het
Obox5 A T 7: 15,491,532 (GRCm39) Q24L probably benign Het
Orc1 T C 4: 108,454,644 (GRCm39) S345P probably benign Het
P4hb A T 11: 120,462,469 (GRCm39) I79N probably damaging Het
Phf3 A T 1: 30,845,399 (GRCm39) I1262N probably damaging Het
Pigo A T 4: 43,022,697 (GRCm39) N291K probably benign Het
Ppargc1b C T 18: 61,440,845 (GRCm39) R691H possibly damaging Het
Ppm1m T C 9: 106,074,069 (GRCm39) probably benign Het
Ptprd A T 4: 76,046,765 (GRCm39) D500E probably damaging Het
Rab3gap2 T A 1: 184,965,151 (GRCm39) probably null Het
Rnf214 A G 9: 45,811,361 (GRCm39) S101P probably benign Het
Sdhc A G 1: 170,957,396 (GRCm39) S162P possibly damaging Het
Spta1 C T 1: 174,071,713 (GRCm39) T2231I probably damaging Het
Stxbp2 T A 8: 3,692,683 (GRCm39) D578E probably benign Het
Tacc2 A T 7: 130,224,567 (GRCm39) E417D possibly damaging Het
Tas2r144 A T 6: 42,192,280 (GRCm39) N7Y probably benign Het
Tasp1 A G 2: 139,676,277 (GRCm39) *421R probably null Het
Tigd5 A G 15: 75,782,039 (GRCm39) I134V possibly damaging Het
Tmem95 A T 11: 69,768,843 (GRCm39) M1K probably null Het
Trappc10 T C 10: 78,024,728 (GRCm39) M1134V probably damaging Het
Unc45a T G 7: 79,983,817 (GRCm39) K326N probably damaging Het
Vmn1r59 A G 7: 5,457,463 (GRCm39) V99A probably benign Het
Vmn2r4 T C 3: 64,322,519 (GRCm39) T67A probably benign Het
Vmn2r85 A T 10: 130,262,529 (GRCm39) M70K probably benign Het
Zftraf1 C A 15: 76,531,930 (GRCm39) E283* probably null Het
Zkscan8 A G 13: 21,704,748 (GRCm39) F325S probably damaging Het
Other mutations in Barx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Barx2 APN 9 31,758,141 (GRCm39) missense unknown
IGL02045:Barx2 APN 9 31,770,094 (GRCm39) missense probably damaging 1.00
IGL03341:Barx2 APN 9 31,770,090 (GRCm39) missense probably damaging 1.00
R1401:Barx2 UTSW 9 31,770,327 (GRCm39) missense probably damaging 1.00
R1982:Barx2 UTSW 9 31,824,308 (GRCm39) missense probably damaging 1.00
R2436:Barx2 UTSW 9 31,824,383 (GRCm39) missense probably damaging 0.99
R4543:Barx2 UTSW 9 31,758,092 (GRCm39) missense unknown
R4804:Barx2 UTSW 9 31,758,108 (GRCm39) missense unknown
R5399:Barx2 UTSW 9 31,765,407 (GRCm39) critical splice donor site probably null
R5436:Barx2 UTSW 9 31,824,285 (GRCm39) missense probably damaging 1.00
R5700:Barx2 UTSW 9 31,770,061 (GRCm39) missense probably damaging 1.00
R6036:Barx2 UTSW 9 31,824,304 (GRCm39) missense probably damaging 1.00
R6036:Barx2 UTSW 9 31,824,304 (GRCm39) missense probably damaging 1.00
R6042:Barx2 UTSW 9 31,758,199 (GRCm39) missense probably benign 0.35
R6618:Barx2 UTSW 9 31,758,168 (GRCm39) missense probably benign 0.01
R8242:Barx2 UTSW 9 31,824,227 (GRCm39) missense probably damaging 1.00
R8307:Barx2 UTSW 9 31,770,307 (GRCm39) missense probably damaging 1.00
R8507:Barx2 UTSW 9 31,770,309 (GRCm39) missense probably damaging 1.00
R8722:Barx2 UTSW 9 31,824,280 (GRCm39) missense probably damaging 1.00
R9089:Barx2 UTSW 9 31,765,443 (GRCm39) missense probably damaging 1.00
R9470:Barx2 UTSW 9 31,770,044 (GRCm39) nonsense probably null
R9720:Barx2 UTSW 9 31,765,407 (GRCm39) critical splice donor site probably null
Z1088:Barx2 UTSW 9 31,758,162 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- GAATCCTTTGGTCCCTCTGG -3'
(R):5'- GTAGTCAAAGATGCTGCTCGGC -3'

Sequencing Primer
(F):5'- CCTCTGGCTCTCAGGTTGGAAAG -3'
(R):5'- GTGTAGACGCAGCAGGC -3'
Posted On 2018-06-06