Incidental Mutation 'R8548:Hoxa2'
ID 659739
Institutional Source Beutler Lab
Gene Symbol Hoxa2
Ensembl Gene ENSMUSG00000014704
Gene Name homeobox A2
Synonyms Hox-1.11
MMRRC Submission 068513-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 52139397-52141811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52140098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 296 (T296I)
Ref Sequence ENSEMBL: ENSMUSP00000014848 (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 probably damaging
Transcript: ENSMUST00000014848
AA Change: T296I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: T296I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A T 5: 121,658,165 (GRCm39) L376Q probably damaging Het
Akirin1 A G 4: 123,631,831 (GRCm39) M179T possibly damaging Het
Ap5b1 G T 19: 5,621,123 (GRCm39) V848L possibly damaging Het
Apoa2 T A 1: 171,053,798 (GRCm39) M91K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cdc20 A C 4: 118,293,535 (GRCm39) S160A possibly damaging Het
Cftr G T 6: 18,273,698 (GRCm39) V839L possibly damaging Het
Ctf1 A T 7: 127,316,564 (GRCm39) H171L probably benign Het
Dmac2 T A 7: 25,324,217 (GRCm39) M225K probably damaging Het
Dmbx1 A T 4: 115,777,512 (GRCm39) V112E probably damaging Het
Eloa T C 4: 135,732,988 (GRCm39) K754R probably damaging Het
Ern2 G A 7: 121,777,062 (GRCm39) T286I probably damaging Het
Fam135b T C 15: 71,334,659 (GRCm39) D845G probably damaging Het
Fbxl6 T A 15: 76,421,542 (GRCm39) M232L possibly damaging Het
Gpr171 A T 3: 59,005,400 (GRCm39) I125K probably damaging Het
Hspa8 A G 9: 40,713,767 (GRCm39) M87V probably benign Het
Ilkap G T 1: 91,318,882 (GRCm39) D31E possibly damaging Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Macc1 T A 12: 119,414,091 (GRCm39) S756T probably benign Het
Map2 A G 1: 66,452,499 (GRCm39) D545G probably damaging Het
Mapkbp1 A G 2: 119,854,572 (GRCm39) N1390D probably benign Het
Mgat5 G A 1: 127,248,409 (GRCm39) V104M possibly damaging Het
Myoz2 T A 3: 122,827,916 (GRCm39) M1L possibly damaging Het
Nmt1 A G 11: 102,934,052 (GRCm39) K64E possibly damaging Het
Nr6a1 C A 2: 38,619,550 (GRCm39) Q448H probably damaging Het
Nr6a1 T G 2: 38,619,551 (GRCm39) Q448P probably damaging Het
Odf2 T C 2: 29,783,526 (GRCm39) probably null Het
Or8g37 T A 9: 39,731,537 (GRCm39) C201S probably benign Het
Osbpl6 A G 2: 76,409,566 (GRCm39) N476S possibly damaging Het
Pclo A G 5: 14,732,268 (GRCm39) probably null Het
Plxnd1 C T 6: 115,934,558 (GRCm39) D1792N probably damaging Het
Prdm11 C T 2: 92,843,103 (GRCm39) V119M probably damaging Het
Prss23 A G 7: 89,159,416 (GRCm39) F218L probably benign Het
Rflnb A G 11: 75,913,047 (GRCm39) Y114H probably damaging Het
Skor2 T A 18: 76,946,581 (GRCm39) I101N unknown Het
Sp8 A C 12: 118,812,910 (GRCm39) Y255S possibly damaging Het
Srfbp1 G A 18: 52,621,463 (GRCm39) V175I probably benign Het
Stxbp5 C T 10: 9,693,050 (GRCm39) D359N probably null Het
Thnsl1 A G 2: 21,217,733 (GRCm39) I496V possibly damaging Het
Usp32 G A 11: 84,908,653 (GRCm39) P1018S possibly damaging Het
Usp7 A T 16: 8,529,939 (GRCm39) V142E 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
R2315:Hoxa2 UTSW 6 52,139,871 (GRCm39) unclassified probably benign
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
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'- CAAAGCCACCTGGTCAAAGG -3'
(R):5'- TTGAGCAAGCCCTCAGTGTC -3'

Sequencing Primer
(F):5'- CCACCTGGTCAAAGGCGTTTTG -3'
(R):5'- AAGCCCTCAGTGTCTCCGG -3'
Posted On 2021-01-18