Incidental Mutation 'R0925:Hormad2'
ID 83157
Institutional Source Beutler Lab
Gene Symbol Hormad2
Ensembl Gene ENSMUSG00000020419
Gene Name HORMA domain containing 2
Synonyms 4930529M09Rik
MMRRC Submission 039072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0925 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4295814-4391105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4377297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 47 (T47M)
Ref Sequence ENSEMBL: ENSMUSP00000121715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020689] [ENSMUST00000109948] [ENSMUST00000109949] [ENSMUST00000130174]
AlphaFold Q5SQP1
Predicted Effect probably damaging
Transcript: ENSMUST00000020689
AA Change: T47M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020689
Gene: ENSMUSG00000020419
AA Change: T47M

DomainStartEndE-ValueType
Pfam:HORMA 27 65 1.9e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109948
AA Change: T47M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: T47M

DomainStartEndE-ValueType
Pfam:HORMA 28 226 8.3e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109949
AA Change: T47M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: T47M

DomainStartEndE-ValueType
Pfam:HORMA 27 226 6.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124249
Predicted Effect probably damaging
Transcript: ENSMUST00000130174
AA Change: T47M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121715
Gene: ENSMUSG00000020419
AA Change: T47M

DomainStartEndE-ValueType
Pfam:HORMA 27 103 6.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149443
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene leads to arrest of spermatogenesis, male infertility, and abnormalities in male and female meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,340 (GRCm39) I295V probably benign Het
Adam5 T C 8: 25,302,441 (GRCm39) Q101R probably benign Het
C2cd4c T C 10: 79,448,584 (GRCm39) N188D probably benign Het
Cdc27 A G 11: 104,416,875 (GRCm39) probably null Het
Cdh11 T A 8: 103,361,356 (GRCm39) I661L probably damaging Het
Cimip1 T A 2: 173,367,867 (GRCm39) S47T probably benign Het
Csmd1 A G 8: 16,760,634 (GRCm39) I167T probably benign Het
Dennd3 T G 15: 73,405,284 (GRCm39) F346V probably damaging Het
Dis3l A T 9: 64,248,412 (GRCm39) M1K probably null Het
Dnajb6 A T 5: 29,957,398 (GRCm39) K60I probably damaging Het
Dock10 T A 1: 80,514,657 (GRCm39) H1421L probably benign Het
Elmod3 A T 6: 72,545,921 (GRCm39) C274S probably damaging Het
Eme1 T C 11: 94,541,558 (GRCm39) E88G probably damaging Het
Fam227a A T 15: 79,505,006 (GRCm39) M475K probably benign Het
Frem2 T C 3: 53,561,394 (GRCm39) I1038V probably benign Het
Gabpb1 T A 2: 126,494,185 (GRCm39) N147Y probably damaging Het
Gmnc A G 16: 26,779,173 (GRCm39) L278P probably benign Het
Gpr153 A G 4: 152,366,331 (GRCm39) T299A probably benign Het
H2-M11 T C 17: 36,858,353 (GRCm39) V49A probably benign Het
Hemgn T A 4: 46,397,049 (GRCm39) K62N probably damaging Het
Iqcf6 A G 9: 106,504,500 (GRCm39) T55A probably benign Het
Itgam T C 7: 127,711,410 (GRCm39) F705L probably benign Het
Klk1 T A 7: 43,878,240 (GRCm39) probably null Het
Myo1f A T 17: 33,797,107 (GRCm39) I123F probably damaging Het
Nup58 T C 14: 60,457,590 (GRCm39) T538A probably damaging Het
Or52j3 T A 7: 102,836,030 (GRCm39) L74* probably null Het
Or5p81 C T 7: 108,267,400 (GRCm39) T259I probably benign Het
Pdzd2 C T 15: 12,399,356 (GRCm39) R790H probably damaging Het
Pigv T C 4: 133,389,960 (GRCm39) K74R probably benign Het
Prmt8 T C 6: 127,674,776 (GRCm39) K284R probably benign Het
Rsl1d1 A T 16: 11,017,553 (GRCm39) Y138N probably damaging Het
Scara5 AC ACC 14: 66,000,167 (GRCm39) probably benign Het
Smc4 T A 3: 68,913,548 (GRCm39) probably benign Het
Spta1 G A 1: 174,001,992 (GRCm39) V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 (GRCm39) N859K probably damaging Het
Vps13d T G 4: 144,883,121 (GRCm39) D824A probably damaging Het
Wdfy2 A T 14: 63,167,675 (GRCm39) probably null Het
Other mutations in Hormad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Hormad2 APN 11 4,358,580 (GRCm39) splice site probably benign
R0116:Hormad2 UTSW 11 4,362,206 (GRCm39) splice site probably benign
R0504:Hormad2 UTSW 11 4,358,833 (GRCm39) missense possibly damaging 0.78
R1344:Hormad2 UTSW 11 4,359,005 (GRCm39) critical splice donor site probably null
R1418:Hormad2 UTSW 11 4,359,005 (GRCm39) critical splice donor site probably null
R1512:Hormad2 UTSW 11 4,374,788 (GRCm39) missense probably damaging 1.00
R1562:Hormad2 UTSW 11 4,358,848 (GRCm39) splice site probably null
R2158:Hormad2 UTSW 11 4,374,808 (GRCm39) nonsense probably null
R3405:Hormad2 UTSW 11 4,374,302 (GRCm39) missense probably damaging 1.00
R3727:Hormad2 UTSW 11 4,358,598 (GRCm39) missense probably benign
R3903:Hormad2 UTSW 11 4,377,237 (GRCm39) splice site probably benign
R6277:Hormad2 UTSW 11 4,371,583 (GRCm39) splice site probably null
R7468:Hormad2 UTSW 11 4,362,245 (GRCm39) nonsense probably null
R7633:Hormad2 UTSW 11 4,296,662 (GRCm39) missense probably benign 0.00
R7912:Hormad2 UTSW 11 4,358,841 (GRCm39) missense probably damaging 1.00
R8129:Hormad2 UTSW 11 4,296,648 (GRCm39) missense probably benign 0.02
R8306:Hormad2 UTSW 11 4,358,714 (GRCm39) missense probably benign 0.32
R9625:Hormad2 UTSW 11 4,377,372 (GRCm39) missense probably damaging 1.00
R9626:Hormad2 UTSW 11 4,377,372 (GRCm39) missense probably damaging 1.00
R9628:Hormad2 UTSW 11 4,377,372 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGATCTTGAAGGACACACCCATGAG -3'
(R):5'- TTGTACATGGTAACTTTGGAGAGAGCG -3'

Sequencing Primer
(F):5'- CCATGAGATAGGATTAACACAGTCTG -3'
(R):5'- GGGAAACTCCCAATTTTGCTTCAG -3'
Posted On 2013-11-08