Incidental Mutation 'R5053:Amhr2'
ID 394775
Institutional Source Beutler Lab
Gene Symbol Amhr2
Ensembl Gene ENSMUSG00000023047
Gene Name anti-Mullerian hormone type 2 receptor
Synonyms MISIIR, MIS TypeII receptor
MMRRC Submission 042643-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.849) question?
Stock # R5053 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 102353802-102363068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102355693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 213 (V213I)
Ref Sequence ENSEMBL: ENSMUSP00000023809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023809] [ENSMUST00000229278] [ENSMUST00000229566]
AlphaFold Q8K592
Predicted Effect probably damaging
Transcript: ENSMUST00000023809
AA Change: V213I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: V213I

DomainStartEndE-ValueType
Pfam:Activin_recp 46 124 3.4e-7 PFAM
transmembrane domain 146 168 N/A INTRINSIC
low complexity region 177 188 N/A INTRINSIC
Pfam:Pkinase 199 501 4.6e-25 PFAM
Pfam:Pkinase_Tyr 199 501 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162893
SMART Domains Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 3 73 2.4e-8 PFAM
Pfam:Pkinase 6 84 1e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229278
AA Change: V213I

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000229566
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mutant males have a complete male reproductive tract, but also a uterus and oviducts. Functional sperm are produced, but most males are infertile because female reproductive organs block sperm transfer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,035,250 (GRCm39) I259F probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Adsl T C 15: 80,844,651 (GRCm39) C180R probably damaging Het
Ahctf1 A G 1: 179,614,349 (GRCm39) I448T possibly damaging Het
Alg9 G T 9: 50,699,472 (GRCm39) G200W probably damaging Het
Ankrd44 A T 1: 54,774,248 (GRCm39) L200* probably null Het
As3mt A G 19: 46,697,493 (GRCm39) Y87C probably damaging Het
Bcl11a C A 11: 24,114,068 (GRCm39) F470L probably benign Het
Cacna2d2 A T 9: 107,392,063 (GRCm39) Y468F probably damaging Het
Cep250 A G 2: 155,804,848 (GRCm39) D71G possibly damaging Het
Clca4b T C 3: 144,616,882 (GRCm39) T923A probably benign Het
Clec16a T C 16: 10,394,461 (GRCm39) L273P probably damaging Het
Comtd1 T C 14: 21,897,764 (GRCm39) D123G probably damaging Het
Cpa5 A T 6: 30,623,271 (GRCm39) E144V probably damaging Het
Cyp2c37 G A 19: 39,990,331 (GRCm39) S343N probably benign Het
Dennd6a C A 14: 26,329,738 (GRCm39) T103K probably damaging Het
Ect2l A G 10: 18,016,093 (GRCm39) L733P probably damaging Het
Erg T A 16: 95,325,393 (GRCm39) H11L probably benign Het
Ero1b T C 13: 12,614,795 (GRCm39) L253P probably damaging Het
Etfbkmt T A 6: 149,048,766 (GRCm39) L135* probably null Het
Frmd4a A T 2: 4,608,732 (GRCm39) T867S probably damaging Het
Gm815 C T 19: 26,863,813 (GRCm39) A18V unknown Het
Gna12 C A 5: 140,746,482 (GRCm39) R321L probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Irs1 A G 1: 82,264,643 (GRCm39) L1191P probably benign Het
Kcp G T 6: 29,496,957 (GRCm39) Q551K probably benign Het
Klhl11 C T 11: 100,363,026 (GRCm39) V177M probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llcfc1 A G 6: 41,662,269 (GRCm39) H91R possibly damaging Het
Lmnb2 A T 10: 80,740,489 (GRCm39) M223K probably damaging Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Mme T A 3: 63,272,270 (GRCm39) V623E probably damaging Het
Ndc1 T C 4: 107,231,415 (GRCm39) S119P probably damaging Het
Nfs1 A C 2: 155,968,318 (GRCm39) C383G probably damaging Het
Nphp4 A G 4: 152,628,919 (GRCm39) probably null Het
Oca2 C A 7: 55,973,328 (GRCm39) Q411K probably benign Het
Or10ab4 A G 7: 107,654,741 (GRCm39) H184R probably benign Het
Or11h23 T A 14: 50,947,968 (GRCm39) Y60* probably null Het
Or1ad1 G A 11: 50,876,137 (GRCm39) G203D probably damaging Het
Or4c15 C A 2: 88,760,597 (GRCm39) V21F probably benign Het
Or8k25 A G 2: 86,243,682 (GRCm39) F238S probably damaging Het
Pcdh7 A T 5: 57,878,943 (GRCm39) T493S probably damaging Het
Phf20 T C 2: 156,115,782 (GRCm39) S368P probably benign Het
Pla2g2e T G 4: 138,607,686 (GRCm39) V22G possibly damaging Het
Plxna1 A T 6: 89,299,442 (GRCm39) H1736Q probably damaging Het
Prlr C A 15: 10,325,471 (GRCm39) Q215K probably benign Het
Prpf6 T C 2: 181,291,246 (GRCm39) V687A probably benign Het
Ptprq T A 10: 107,399,063 (GRCm39) T1951S probably damaging Het
Sec31a G T 5: 100,541,073 (GRCm39) Q345K possibly damaging Het
Serpina3k T C 12: 104,309,473 (GRCm39) probably null Het
Sertad3 T A 7: 27,175,947 (GRCm39) V127E probably benign Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shq1 A G 6: 100,632,220 (GRCm39) L202P probably damaging Het
Sp8 C T 12: 118,813,339 (GRCm39) T398M probably damaging Het
Tmem150c A T 5: 100,231,599 (GRCm39) D125E probably benign Het
Trim3 G T 7: 105,266,968 (GRCm39) D470E probably damaging Het
Ubap1 T A 4: 41,387,315 (GRCm39) C88* probably null Het
Unc79 T A 12: 103,071,007 (GRCm39) D1124E probably damaging Het
Usf3 T C 16: 44,037,550 (GRCm39) S677P probably benign Het
Vmn1r76 T C 7: 11,664,241 (GRCm39) probably null Het
Zfp819 C T 7: 43,266,570 (GRCm39) T275I probably damaging Het
Zranb2 T A 3: 157,246,796 (GRCm39) D161E probably damaging Het
Other mutations in Amhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02273:Amhr2 APN 15 102,360,924 (GRCm39) missense probably benign 0.02
IGL02941:Amhr2 APN 15 102,355,724 (GRCm39) missense probably damaging 1.00
R0269:Amhr2 UTSW 15 102,355,503 (GRCm39) missense probably benign 0.39
R0645:Amhr2 UTSW 15 102,354,863 (GRCm39) missense probably damaging 1.00
R1128:Amhr2 UTSW 15 102,361,256 (GRCm39) missense probably benign 0.10
R1857:Amhr2 UTSW 15 102,355,212 (GRCm39) nonsense probably null
R3500:Amhr2 UTSW 15 102,355,501 (GRCm39) missense probably benign 0.01
R3882:Amhr2 UTSW 15 102,354,333 (GRCm39) missense probably damaging 1.00
R4661:Amhr2 UTSW 15 102,362,688 (GRCm39) missense probably damaging 1.00
R4980:Amhr2 UTSW 15 102,362,765 (GRCm39) missense probably benign 0.00
R7003:Amhr2 UTSW 15 102,354,768 (GRCm39) missense probably benign 0.00
R7016:Amhr2 UTSW 15 102,362,799 (GRCm39) missense possibly damaging 0.63
R7293:Amhr2 UTSW 15 102,355,828 (GRCm39) missense probably benign 0.00
R7636:Amhr2 UTSW 15 102,360,893 (GRCm39) missense probably damaging 1.00
R8557:Amhr2 UTSW 15 102,362,847 (GRCm39) missense probably benign 0.01
R9568:Amhr2 UTSW 15 102,353,954 (GRCm39) missense probably benign 0.26
RF014:Amhr2 UTSW 15 102,361,589 (GRCm39) missense probably benign 0.00
X0013:Amhr2 UTSW 15 102,361,187 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACAACGAAAGGCCTGCAG -3'
(R):5'- TTCCAGTACCAGCAAAGGCC -3'

Sequencing Primer
(F):5'- TGCAAGGTGGGTCAGACC -3'
(R):5'- GTACCAGCAAAGGCCCAGAG -3'
Posted On 2016-06-15