Incidental Mutation 'R1562:Hormad2'
ID 170692
Institutional Source Beutler Lab
Gene Symbol Hormad2
Ensembl Gene ENSMUSG00000020419
Gene Name HORMA domain containing 2
Synonyms 4930529M09Rik
MMRRC Submission 039601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1562 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4295814-4391105 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4358848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020689] [ENSMUST00000109948] [ENSMUST00000109948] [ENSMUST00000109949] [ENSMUST00000109949]
AlphaFold Q5SQP1
Predicted Effect probably benign
Transcript: ENSMUST00000020689
SMART Domains Protein: ENSMUSP00000020689
Gene: ENSMUSG00000020419

DomainStartEndE-ValueType
Pfam:HORMA 27 65 1.9e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109948
SMART Domains Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419

DomainStartEndE-ValueType
Pfam:HORMA 28 226 8.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109948
SMART Domains Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419

DomainStartEndE-ValueType
Pfam:HORMA 28 226 8.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109949
SMART Domains Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419

DomainStartEndE-ValueType
Pfam:HORMA 27 226 6.4e-60 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109949
SMART Domains Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419

DomainStartEndE-ValueType
Pfam:HORMA 27 226 6.4e-60 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,331 (GRCm39) I2201V probably benign Het
Adam22 T C 5: 8,145,007 (GRCm39) N817S probably damaging Het
Alox12 C A 11: 70,140,991 (GRCm39) R348L probably damaging Het
Asb17 A T 3: 153,559,143 (GRCm39) T285S probably benign Het
Casp4 T C 9: 5,324,733 (GRCm39) S182P possibly damaging Het
Cenpe T C 3: 134,944,155 (GRCm39) M985T possibly damaging Het
Clcn1 C T 6: 42,277,169 (GRCm39) P420L probably benign Het
Coro2a T C 4: 46,548,917 (GRCm39) I126V probably benign Het
Cubn T C 2: 13,432,778 (GRCm39) Y1181C probably damaging Het
Cyp2d22 A T 15: 82,258,179 (GRCm39) L147Q probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Fat2 T C 11: 55,200,800 (GRCm39) N758S probably damaging Het
Fbxo43 T C 15: 36,163,162 (GRCm39) D15G probably damaging Het
Flt3 T C 5: 147,281,323 (GRCm39) E803G probably damaging Het
Folr1 T G 7: 101,507,801 (GRCm39) D213A probably damaging Het
Fus T C 7: 127,579,094 (GRCm39) V359A probably damaging Het
Gabrb3 C T 7: 57,415,262 (GRCm39) R111* probably null Het
Gm17324 T C 9: 78,355,964 (GRCm39) probably benign Het
Ifi27l2b T A 12: 103,422,780 (GRCm39) probably null Het
Isg20 G T 7: 78,569,891 (GRCm39) C176F probably benign Het
Katnip C A 7: 125,442,020 (GRCm39) S643Y probably damaging Het
Krt15 C A 11: 100,024,007 (GRCm39) V346L probably benign Het
Liat1 A T 11: 75,894,024 (GRCm39) I134F probably damaging Het
Med13l A G 5: 118,876,584 (GRCm39) K920R probably damaging Het
Mlh3 A T 12: 85,313,694 (GRCm39) F831I probably benign Het
Mtmr9 A G 14: 63,771,786 (GRCm39) S267P probably benign Het
Mybpc1 C T 10: 88,389,193 (GRCm39) A406T probably damaging Het
Myh1 T C 11: 67,102,196 (GRCm39) M829T probably benign Het
Myo10 A G 15: 25,780,497 (GRCm39) Q209R possibly damaging Het
Nceh1 T A 3: 27,293,701 (GRCm39) V153D probably damaging Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or1j19 A G 2: 36,676,696 (GRCm39) D53G probably damaging Het
Or2ag1b C T 7: 106,288,187 (GRCm39) M250I probably benign Het
Or4c103 T A 2: 88,513,423 (GRCm39) I218F probably benign Het
Or8c20 C A 9: 38,260,658 (GRCm39) S87* probably null Het
Pcnt G A 10: 76,203,164 (GRCm39) T2646M probably benign Het
Phf10 A T 17: 15,166,512 (GRCm39) C453S probably damaging Het
Plcb4 T A 2: 135,812,367 (GRCm39) probably null Het
Plekhh1 A G 12: 79,123,482 (GRCm39) H1185R probably benign Het
Prmt3 G T 7: 49,476,602 (GRCm39) V404L probably benign Het
Ptprb T A 10: 116,175,372 (GRCm39) D1122E probably benign Het
Rars1 A G 11: 35,711,921 (GRCm39) probably null Het
Rasa2 G T 9: 96,427,803 (GRCm39) N687K possibly damaging Het
Rbm11 A G 16: 75,393,423 (GRCm39) T40A probably damaging Het
Rem2 T C 14: 54,713,775 (GRCm39) V16A probably benign Het
Rlf A T 4: 121,007,588 (GRCm39) M574K possibly damaging Het
Rpap3 A T 15: 97,592,098 (GRCm39) V186D possibly damaging Het
Sertad3 G A 7: 27,176,048 (GRCm39) E161K probably damaging Het
Sh3gl2 T C 4: 85,304,130 (GRCm39) S278P probably benign Het
Strn3 T C 12: 51,680,401 (GRCm39) T400A probably benign Het
Sycp2 A T 2: 178,024,178 (GRCm39) I402N probably damaging Het
Synj1 C T 16: 90,784,290 (GRCm39) V283I probably benign Het
Tas2r108 A G 6: 40,471,000 (GRCm39) probably null Het
Ttpal A G 2: 163,457,323 (GRCm39) N265S probably benign Het
Unc80 G A 1: 66,677,116 (GRCm39) G2015D probably damaging Het
Upf1 C T 8: 70,796,017 (GRCm39) W138* probably null Het
Vmn1r25 T G 6: 57,955,786 (GRCm39) M168L probably benign Het
Vmn2r18 A T 5: 151,510,301 (GRCm39) F24Y probably benign Het
Vmn2r4 G T 3: 64,296,865 (GRCm39) T640N probably damaging Het
Wdr75 T A 1: 45,843,030 (GRCm39) probably null Het
Zdbf2 T G 1: 63,342,747 (GRCm39) S375R possibly damaging Het
Zfp648 A G 1: 154,080,138 (GRCm39) Q99R probably benign Het
Zfp964 C T 8: 70,115,654 (GRCm39) P85S probably benign 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
R0925:Hormad2 UTSW 11 4,377,297 (GRCm39) missense probably damaging 1.00
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
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'- TAGTGCCATCGTCCTGACTGACAC -3'
(R):5'- GATGCAGAATCTTGGACCCCTTCC -3'

Sequencing Primer
(F):5'- GACACTGTTCTCCCCATCGAG -3'
(R):5'- TGGACCCCTTCCGAATGATG -3'
Posted On 2014-04-13