Incidental Mutation 'R7708:Hoxa2'
ID 594397
Institutional Source Beutler Lab
Gene Symbol Hoxa2
Ensembl Gene ENSMUSG00000014704
Gene Name homeobox A2
Synonyms Hox-1.11
MMRRC Submission 045709-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7708 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 52139397-52141811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52141542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000014848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014848] [ENSMUST00000114434] [ENSMUST00000128102]
AlphaFold P31245
Predicted Effect probably damaging
Transcript: ENSMUST00000014848
AA Change: V28A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: V28A

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: ENSMUST00000114434
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

DomainStartEndE-ValueType
low complexity region 76 131 N/A INTRINSIC
HOX 192 254 3.35e-28 SMART
low complexity region 287 302 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Pfam:DUF4074 377 441 9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A G 3: 59,772,756 (GRCm39) S87G probably benign Het
Adam24 A G 8: 41,133,558 (GRCm39) H342R probably damaging Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Asap1 T C 15: 64,024,721 (GRCm39) Y315C probably damaging Het
Atp10b C A 11: 43,092,970 (GRCm39) T435K probably damaging Het
AW551984 A T 9: 39,505,051 (GRCm39) F480L probably benign Het
Bspry G T 4: 62,414,337 (GRCm39) C310F probably benign Het
Camk2d A T 3: 126,391,089 (GRCm39) M1L probably benign Het
Clock T A 5: 76,414,256 (GRCm39) S19C probably benign Het
Cxxc1 G T 18: 74,349,314 (GRCm39) probably benign Het
Efcab3 G C 11: 104,855,397 (GRCm39) D3816H unknown Het
Ercc6l2 T A 13: 63,989,328 (GRCm39) C176* probably null Het
Fkbp5 A G 17: 28,657,071 (GRCm39) F49L probably benign Het
Gm15130 T A 2: 110,974,962 (GRCm39) D67V Het
Gpatch2 A G 1: 186,964,963 (GRCm39) I297V probably benign Het
Gpr135 T G 12: 72,116,733 (GRCm39) I345L probably benign Het
Gpr89 G A 3: 96,787,941 (GRCm39) T271I possibly damaging Het
Hip1r T A 5: 124,135,532 (GRCm39) S503T possibly damaging Het
Hivep1 T A 13: 42,317,753 (GRCm39) C2076* probably null Het
Inf2 T C 12: 112,573,991 (GRCm39) V765A unknown Het
Krt87 T C 15: 101,385,813 (GRCm39) M261V probably benign Het
Mtmr7 A G 8: 41,043,554 (GRCm39) Y166H probably damaging Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Or4f52 T C 2: 111,061,863 (GRCm39) I92V probably damaging Het
Or52e19 T C 7: 102,959,768 (GRCm39) L280P probably damaging Het
Or5p80 C T 7: 108,230,048 (GRCm39) P283L probably damaging Het
Or6k6 A G 1: 173,945,300 (GRCm39) M94T probably damaging Het
Or8b1c A T 9: 38,384,681 (GRCm39) T213S probably damaging Het
Or8s16 A T 15: 98,211,029 (GRCm39) M134K probably damaging Het
Orm3 A T 4: 63,276,050 (GRCm39) E154V probably damaging Het
Pcdhga2 T A 18: 37,804,496 (GRCm39) I780N possibly damaging Het
Phf21a T C 2: 92,157,511 (GRCm39) probably null Het
Polh G T 17: 46,483,626 (GRCm39) D546E probably benign Het
Ptprr A G 10: 115,998,502 (GRCm39) D204G probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rpl7l1 A G 17: 47,090,271 (GRCm39) V121A possibly damaging Het
Rreb1 A G 13: 38,113,546 (GRCm39) T302A probably benign Het
Scn3a C T 2: 65,313,512 (GRCm39) V1134I possibly damaging Het
Slc10a6 C T 5: 103,777,128 (GRCm39) probably benign Het
Tmprss11f C T 5: 86,672,028 (GRCm39) G388D probably damaging Het
Tnf A C 17: 35,419,134 (GRCm39) V232G possibly damaging Het
Trappc13 C T 13: 104,283,845 (GRCm39) G302D probably benign Het
Trbj1-7 T G 6: 41,512,617 (GRCm39) Y14* probably null Het
Vmn1r217 T C 13: 23,298,269 (GRCm39) H211R probably benign Het
Vmn2r69 T A 7: 85,061,755 (GRCm39) H73L possibly damaging Het
Zfp827 T C 8: 79,902,591 (GRCm39) L835S probably 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
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'- TCATCCAGGGATACTCAGGC -3'
(R):5'- CCCAGCAGCGATCTTCTATG -3'

Sequencing Primer
(F):5'- ATACTCAGGCGGCTGCAG -3'
(R):5'- CCTCCAAAAGAGGGAACTTT -3'
Posted On 2019-11-12