Incidental Mutation 'R1128:Amhr2'
ID 96432
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 039201-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.851) question?
Stock # R1128 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 102353802-102363068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102361256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 402 (Q402L)
Ref Sequence ENSEMBL: ENSMUSP00000154968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023809] [ENSMUST00000229278]
AlphaFold Q8K592
Predicted Effect probably benign
Transcript: ENSMUST00000023809
AA Change: Q402L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: Q402L

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 noncoding transcript
Transcript: ENSMUST00000158543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161376
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 noncoding transcript
Transcript: ENSMUST00000181328
Predicted Effect probably benign
Transcript: ENSMUST00000229278
AA Change: Q402L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Brip1 A T 11: 85,955,763 (GRCm39) L917M possibly damaging Het
Dennd5a G A 7: 109,520,541 (GRCm39) R415* probably null Het
Eif2ak1 G T 5: 143,835,994 (GRCm39) probably null Het
Golga4 G A 9: 118,377,852 (GRCm39) A458T probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Ift88 C T 14: 57,754,476 (GRCm39) R762* probably null Het
Kansl2 A T 15: 98,431,566 (GRCm39) C28* probably null Het
Lct T C 1: 128,229,046 (GRCm39) R816G probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Obscn T C 11: 58,919,769 (GRCm39) N6809S probably null Het
Pak6 A G 2: 118,526,990 (GRCm39) T662A probably benign Het
Pglyrp3 T C 3: 91,935,479 (GRCm39) F243S probably benign Het
Rab44 T C 17: 29,359,435 (GRCm39) V541A possibly damaging Het
Slc39a6 G T 18: 24,718,349 (GRCm39) H569Q probably damaging Het
Slc4a7 T C 14: 14,733,832 (GRCm38) S87P probably damaging Het
Spocd1 T C 4: 129,850,599 (GRCm39) V875A possibly damaging Het
Tspan17 A G 13: 54,942,984 (GRCm39) D146G 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
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
R5053:Amhr2 UTSW 15 102,355,693 (GRCm39) missense probably damaging 1.00
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'- GATAAGTGTGAGACCTGTGGTGACG -3'
(R):5'- TGCTGCCCAGTTCTGCCTCATAAG -3'

Sequencing Primer
(F):5'- TGGCTCTGATGACAGTACAAC -3'
(R):5'- TGTTAACCTACCCTGGCGAG -3'
Posted On 2014-01-05