Incidental Mutation 'R2315:Hoxa2'
ID 245453
Institutional Source Beutler Lab
Gene Symbol Hoxa2
Ensembl Gene ENSMUSG00000014704
Gene Name homeobox A2
Synonyms Hox-1.11
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2315 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 52139397-52141811 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 52139871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000964] [ENSMUST00000014848] [ENSMUST00000120363] [ENSMUST00000128102]
AlphaFold P31245
Predicted Effect probably benign
Transcript: ENSMUST00000000964
SMART Domains Protein: ENSMUSP00000000964
Gene: ENSMUSG00000029844

DomainStartEndE-ValueType
low complexity region 142 148 N/A INTRINSIC
HOX 230 292 1.49e-25 SMART
low complexity region 304 335 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000014848
AA Change: Y372H
SMART Domains Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: Y372H

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
HOX 139 201 2.37e-28 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 332 367 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120363
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155922
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutant homozygotes lack skeletal elements normally derived from the second branchial arch and show duplication of elements derived from the first branchial arch, such as ossification centers of the middle ear. Mutants die perinatally with cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnot1 C T 8: 96,475,690 (GRCm39) G995R probably damaging Het
Cntn2 T C 1: 132,450,735 (GRCm39) T547A probably benign Het
Ddx20 A G 3: 105,586,015 (GRCm39) Y777H probably damaging Het
Fbxo32 T C 15: 58,071,431 (GRCm39) N50S probably benign Het
Fsip2 G C 2: 82,805,437 (GRCm39) M585I probably benign Het
Gm13941 A G 2: 110,935,162 (GRCm39) S23P unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hydin A G 8: 111,124,676 (GRCm39) I562V probably benign Het
Kif20b T A 19: 34,908,999 (GRCm39) L179M probably damaging Het
Myl3 T C 9: 110,595,809 (GRCm39) L102P probably damaging Het
Pag1 C T 3: 9,764,824 (GRCm39) V110I probably damaging Het
Scube2 A G 7: 109,403,908 (GRCm39) F861L probably damaging Het
Serpina3n A T 12: 104,378,627 (GRCm39) I316F possibly damaging Het
Sez6l A G 5: 112,612,463 (GRCm39) S493P probably benign Het
Sult1c2 T A 17: 54,145,521 (GRCm39) T52S possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Vmn2r17 A C 5: 109,575,897 (GRCm39) D256A probably damaging Het
Xylb T C 9: 119,188,335 (GRCm39) F47S probably benign Het
Zim1 T C 7: 6,680,067 (GRCm39) D532G possibly damaging Het
Other mutations in Hoxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Hoxa2 APN 6 52,140,497 (GRCm39) missense probably damaging 1.00
R0111:Hoxa2 UTSW 6 52,141,467 (GRCm39) splice site probably null
R0612:Hoxa2 UTSW 6 52,140,540 (GRCm39) missense probably damaging 1.00
R1479:Hoxa2 UTSW 6 52,140,320 (GRCm39) missense probably damaging 0.97
R1992:Hoxa2 UTSW 6 52,141,576 (GRCm39) missense probably damaging 0.97
R5703:Hoxa2 UTSW 6 52,140,243 (GRCm39) missense probably damaging 0.98
R5994:Hoxa2 UTSW 6 52,141,372 (GRCm39) missense possibly damaging 0.73
R6168:Hoxa2 UTSW 6 52,140,461 (GRCm39) missense probably damaging 1.00
R7483:Hoxa2 UTSW 6 52,141,279 (GRCm39) missense probably benign 0.01
R7573:Hoxa2 UTSW 6 52,140,283 (GRCm39) missense probably benign 0.25
R7708:Hoxa2 UTSW 6 52,141,542 (GRCm39) missense probably damaging 0.99
R8215:Hoxa2 UTSW 6 52,140,041 (GRCm39) missense probably damaging 1.00
R8548:Hoxa2 UTSW 6 52,140,098 (GRCm39) missense probably damaging 1.00
R8683:Hoxa2 UTSW 6 52,141,540 (GRCm39) missense possibly damaging 0.46
R8936:Hoxa2 UTSW 6 52,140,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCCAACATAATTTGCAAGAG -3'
(R):5'- AAACAATGACAGTCCCGAGG -3'

Sequencing Primer
(F):5'- GCAAGAGATGGCTTTAAAACTGTGTC -3'
(R):5'- ATGACAGTCCCGAGGCCATC -3'
Posted On 2014-10-30