Incidental Mutation 'R7468:Hormad2'
ID 578969
Institutional Source Beutler Lab
Gene Symbol Hormad2
Ensembl Gene ENSMUSG00000020419
Gene Name HORMA domain containing 2
Synonyms 4930529M09Rik
MMRRC Submission 045542-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7468 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 4295814-4391105 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 4362245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 126 (Y126*)
Ref Sequence ENSEMBL: ENSMUSP00000105575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020689] [ENSMUST00000109948] [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
AA Change: Y126*
SMART Domains Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: Y126*

DomainStartEndE-ValueType
Pfam:HORMA 28 226 8.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109949
AA Change: Y126*
SMART Domains Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: Y126*

DomainStartEndE-ValueType
Pfam:HORMA 27 226 6.4e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (86/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T G 1: 156,450,104 (GRCm39) N90K possibly damaging Het
Acox1 T C 11: 116,069,001 (GRCm39) T415A possibly damaging Het
Acy1 T C 9: 106,314,921 (GRCm39) M1V probably null Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alpk3 C A 7: 80,750,746 (GRCm39) Y1505* probably null Het
Ankrd17 T C 5: 90,390,902 (GRCm39) N2256S probably benign Het
Ankrd22 C A 19: 34,126,692 (GRCm39) C46F possibly damaging Het
Arhgef5 A T 6: 43,257,605 (GRCm39) K1291* probably null Het
Arl9 T A 5: 77,158,276 (GRCm39) Y119* probably null Het
Asb14 T C 14: 26,622,805 (GRCm39) V89A probably benign Het
Banp T G 8: 122,676,588 (GRCm39) probably null Het
Btn2a2 T C 13: 23,666,933 (GRCm39) N224S probably benign Het
C1ra C T 6: 124,499,403 (GRCm39) Q530* probably null Het
C2cd6 A C 1: 59,107,844 (GRCm39) S273A probably benign Het
Cd1d2 A T 3: 86,895,583 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,306,307 (GRCm39) D132G probably damaging Het
Cfap45 C A 1: 172,362,877 (GRCm39) Y289* probably null Het
Chrdl2 T C 7: 99,659,332 (GRCm39) probably null Het
Cilk1 A G 9: 78,065,221 (GRCm39) K377R probably benign Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Dcaf11 T C 14: 55,802,966 (GRCm39) F292L possibly damaging Het
Dgcr8 A G 16: 18,077,487 (GRCm39) F641S probably damaging Het
Dnm3 G A 1: 162,149,198 (GRCm39) probably null Het
Efcab3 G T 11: 104,640,526 (GRCm39) S1088I probably benign Het
Eral1 T C 11: 77,966,219 (GRCm39) K320E probably damaging Het
Eva1a A G 6: 82,069,002 (GRCm39) T110A possibly damaging Het
Fbxo42 A G 4: 140,926,917 (GRCm39) D399G possibly damaging Het
Frs2 T C 10: 116,910,007 (GRCm39) T452A possibly damaging Het
Git2 T A 5: 114,871,958 (GRCm39) D542V probably damaging Het
Grk2 T A 19: 4,356,063 (GRCm39) probably benign Het
Gsg1l2 A G 11: 67,676,110 (GRCm39) N158S possibly damaging Het
Hc T C 2: 34,918,063 (GRCm39) N740S probably benign Het
Hectd1 T C 12: 51,791,588 (GRCm39) probably null Het
Hemk1 A G 9: 107,208,288 (GRCm39) probably null Het
Hr A G 14: 70,795,652 (GRCm39) E399G possibly damaging Het
Ilf3 C A 9: 21,314,707 (GRCm39) H780N unknown Het
Inpp5e A T 2: 26,298,161 (GRCm39) S147T probably benign Het
Irag2 C A 6: 145,119,427 (GRCm39) probably null Het
Jmjd6 T C 11: 116,733,275 (GRCm39) D134G probably damaging Het
Kif23 G T 9: 61,844,457 (GRCm39) Y120* probably null Het
Klk12 T A 7: 43,422,780 (GRCm39) Y236N probably damaging Het
Kmt5b C A 19: 3,852,799 (GRCm39) Y186* probably null Het
Krtap9-5 A G 11: 99,840,132 (GRCm39) T278A unknown Het
Lca5 T A 9: 83,305,509 (GRCm39) D99V probably damaging Het
Leng9 A G 7: 4,151,800 (GRCm39) V292A probably benign Het
Lime1 A G 2: 181,025,135 (GRCm39) R231G probably benign Het
Mctp2 T A 7: 71,861,438 (GRCm39) E402D probably damaging Het
Mrpl28 T A 17: 26,343,589 (GRCm39) S116R probably damaging Het
Muc15 A T 2: 110,561,862 (GRCm39) R99S probably benign Het
Myh2 G A 11: 67,083,368 (GRCm39) A1444T probably benign Het
Mynn T A 3: 30,657,825 (GRCm39) Y48N probably damaging Het
Myo1b A T 1: 51,836,639 (GRCm39) V274E possibly damaging Het
Nemp1 T A 10: 127,528,923 (GRCm39) M209K possibly damaging Het
Nlrc4 G T 17: 74,752,507 (GRCm39) D625E probably benign Het
Or10al6 C T 17: 38,082,910 (GRCm39) A122V probably damaging Het
Or11a4 T C 17: 37,536,276 (GRCm39) F87L probably benign Het
Or4p4 T C 2: 88,482,622 (GRCm39) L42P probably damaging Het
Otog T C 7: 45,913,543 (GRCm39) V792A probably benign Het
Paqr8 T C 1: 21,005,442 (GRCm39) Y199H probably damaging Het
Popdc3 A G 10: 45,191,117 (GRCm39) D76G probably damaging Het
Ppme1 T C 7: 99,991,069 (GRCm39) N210D probably benign Het
Prdm15 A C 16: 97,636,842 (GRCm39) Y158* probably null Het
Prrg2 A T 7: 44,709,687 (GRCm39) L70Q probably benign Het
Psmg4 C T 13: 34,361,966 (GRCm39) R85W probably damaging Het
Rab11fip4 A T 11: 79,580,478 (GRCm39) T437S probably benign Het
Rap2a T A 14: 120,716,338 (GRCm39) M67K probably damaging Het
Rnf123 A T 9: 107,946,208 (GRCm39) H322Q probably benign Het
Rxfp2 A T 5: 149,990,801 (GRCm39) T521S possibly damaging Het
Scrn2 T G 11: 96,923,992 (GRCm39) V292G possibly damaging Het
Serpina3n C A 12: 104,377,656 (GRCm39) P303H probably benign Het
Spop C T 11: 95,376,727 (GRCm39) T260M probably damaging Het
Surf2 G A 2: 26,809,354 (GRCm39) G224D probably benign Het
Synm T G 7: 67,382,971 (GRCm39) N669T unknown Het
Tmprss13 T C 9: 45,239,721 (GRCm39) S10P unknown Het
Trav9d-1 T A 14: 53,029,970 (GRCm39) S25T probably benign Het
Trpc3 A T 3: 36,678,565 (GRCm39) I840K probably damaging Het
Tsbp1 T A 17: 34,636,539 (GRCm39) probably null Het
Tssc4 C A 7: 142,622,999 (GRCm39) probably benign Het
Ttc39d G T 17: 80,523,579 (GRCm39) R79S possibly damaging Het
Txlnb T A 10: 17,675,082 (GRCm39) S78R probably damaging Het
Vmn1r142 T A 7: 21,862,784 (GRCm39) Q226L possibly damaging Het
Vmn1r230 T C 17: 21,067,146 (GRCm39) S112P probably damaging Het
Wrnip1 T C 13: 33,000,360 (GRCm39) F456L possibly damaging Het
Zc3h8 G T 2: 128,775,215 (GRCm39) H148Q probably benign Het
Zcchc3 A G 2: 152,256,615 (GRCm39) V28A probably benign Het
Zdbf2 T A 1: 63,346,669 (GRCm39) C1683S probably benign Het
Zfp874a T C 13: 67,573,723 (GRCm39) probably null Het
Zmym4 A G 4: 126,776,029 (GRCm39) S1260P 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
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
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'- CAGCCAAATTTCTTGACCTCAG -3'
(R):5'- CTGAAACCACTACTCCTTGATAAAG -3'

Sequencing Primer
(F):5'- TTTCTTGACCTCAGACCTTAAAAC -3'
(R):5'- GTAATTCTGCGAGACAAACATACAG -3'
Posted On 2019-10-07