Incidental Mutation 'R4980:Amhr2'
ID 384777
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 042575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.851) question?
Stock # R4980 (G1)
Quality Score 203
Status Not validated
Chromosome 15
Chromosomal Location 102353802-102363068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102362765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 511 (S511T)
Ref Sequence ENSEMBL: ENSMUSP00000023809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023809] [ENSMUST00000023810] [ENSMUST00000164938] [ENSMUST00000164957] [ENSMUST00000171245] [ENSMUST00000229278]
AlphaFold Q8K592
Predicted Effect probably benign
Transcript: ENSMUST00000023809
AA Change: S511T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: S511T

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: ENSMUST00000023810
SMART Domains Protein: ENSMUSP00000023810
Gene: ENSMUSG00000023048

DomainStartEndE-ValueType
low complexity region 22 48 N/A INTRINSIC
low complexity region 50 85 N/A INTRINSIC
low complexity region 102 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161376
Predicted Effect unknown
Transcript: ENSMUST00000162893
AA Change: S132T
SMART Domains Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047
AA Change: S132T

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 3 73 2.4e-8 PFAM
Pfam:Pkinase 6 84 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164938
SMART Domains Protein: ENSMUSP00000129218
Gene: ENSMUSG00000023048

DomainStartEndE-ValueType
low complexity region 22 48 N/A INTRINSIC
low complexity region 50 79 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181328
Predicted Effect probably benign
Transcript: ENSMUST00000164957
SMART Domains Protein: ENSMUSP00000125784
Gene: ENSMUSG00000023048

DomainStartEndE-ValueType
low complexity region 22 48 N/A INTRINSIC
low complexity region 50 85 N/A INTRINSIC
low complexity region 102 136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171245
SMART Domains Protein: ENSMUSP00000132636
Gene: ENSMUSG00000023048

DomainStartEndE-ValueType
low complexity region 22 48 N/A INTRINSIC
low complexity region 50 85 N/A INTRINSIC
low complexity region 102 136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229278
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,292 (GRCm39) C189S probably damaging Het
Abcd3 A T 3: 121,562,917 (GRCm39) probably null Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Atg16l1 T C 1: 87,694,553 (GRCm39) S77P possibly damaging Het
Bltp1 T C 3: 36,997,461 (GRCm39) S1173P probably damaging Het
Cacna1i T C 15: 80,232,650 (GRCm39) F218L probably damaging Het
Cd5l A T 3: 87,274,908 (GRCm39) H149L probably benign Het
Cdc14a T A 3: 116,186,506 (GRCm39) R92* probably null Het
Col19a1 T C 1: 24,565,564 (GRCm39) T256A unknown Het
Col22a1 C T 15: 71,673,792 (GRCm39) A975T unknown Het
Cracd A T 5: 77,005,421 (GRCm39) D594V unknown Het
Cyp20a1 T C 1: 60,402,373 (GRCm39) W153R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpyd T C 3: 118,710,767 (GRCm39) S392P probably damaging Het
Dst A T 1: 34,295,369 (GRCm39) L957F probably damaging Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fbn2 T C 18: 58,143,703 (GRCm39) E2784G probably benign Het
Fbxw10 T C 11: 62,738,583 (GRCm39) I159T possibly damaging Het
Fgfr2 T C 7: 129,802,810 (GRCm39) Y192C probably damaging Het
Gm7298 A G 6: 121,736,198 (GRCm39) probably null Het
Igf2r C T 17: 12,922,247 (GRCm39) probably null Het
Ints4 T C 7: 97,151,057 (GRCm39) probably null Het
Kcnf1 A G 12: 17,225,012 (GRCm39) F403S possibly damaging Het
Kif11 C T 19: 37,375,819 (GRCm39) Q211* probably null Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Kifc3 T A 8: 95,853,177 (GRCm39) T60S probably benign Het
Krt82 T C 15: 101,453,534 (GRCm39) D284G possibly damaging Het
Lancl1 T C 1: 67,043,968 (GRCm39) Y344C probably benign Het
Ltbp3 A T 19: 5,803,955 (GRCm39) probably null Het
Map3k4 A G 17: 12,490,958 (GRCm39) F158L probably damaging Het
Mast2 A G 4: 116,174,948 (GRCm39) Y469H probably damaging Het
Mcf2l T G 8: 13,034,883 (GRCm39) F97C probably damaging Het
Mpeg1 T C 19: 12,438,904 (GRCm39) S121P probably damaging Het
Mycbp2 A T 14: 103,497,821 (GRCm39) probably null Het
Myt1l A T 12: 29,877,038 (GRCm39) T230S unknown Het
Naa15 T C 3: 51,366,173 (GRCm39) probably null Het
Nans G A 4: 46,492,764 (GRCm39) R64Q probably benign Het
Nbea C T 3: 55,554,772 (GRCm39) probably null Het
Nbea T C 3: 55,860,466 (GRCm39) E1870G probably benign Het
Ncapd3 T C 9: 26,974,591 (GRCm39) S688P probably damaging Het
Nedd4l G T 18: 65,213,131 (GRCm39) E96* probably null Het
Or56a5 T A 7: 104,793,431 (GRCm39) Y23F probably benign Het
Or5b21 A T 19: 12,839,384 (GRCm39) M82L probably benign Het
Pdxk A G 10: 78,287,318 (GRCm39) L81P probably damaging Het
Plec T A 15: 76,077,495 (GRCm39) R269* probably null Het
Plec T C 15: 76,090,065 (GRCm39) I92V probably damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppp2r2c A T 5: 37,109,732 (GRCm39) M364L probably benign Het
Prag1 A C 8: 36,606,740 (GRCm39) H827P probably damaging Het
Ptprg A G 14: 12,154,421 (GRCm38) N714S probably benign Het
Rbp2 G A 9: 98,380,894 (GRCm39) V67I probably benign Het
Rictor T A 15: 6,811,141 (GRCm39) Y835N probably damaging Het
Ripply2 A G 9: 86,901,747 (GRCm39) Q91R probably damaging Het
Sap130 C A 18: 31,782,699 (GRCm39) H203Q possibly damaging Het
Sema4d T C 13: 51,865,270 (GRCm39) Y358C probably damaging Het
Serbp1 G A 6: 67,254,872 (GRCm39) D294N probably benign Het
Slc16a10 A G 10: 39,956,801 (GRCm39) W113R probably damaging Het
Slc6a6 A G 6: 91,703,041 (GRCm39) Y138C probably damaging Het
Spag11a T C 8: 19,207,962 (GRCm39) M1T probably null Het
Spata20 T C 11: 94,375,435 (GRCm39) M120V probably damaging Het
Stk32a A C 18: 43,447,113 (GRCm39) K357Q probably benign Het
Tasor T A 14: 27,183,382 (GRCm39) L614I probably benign Het
Trmo A T 4: 46,389,364 (GRCm39) C10* probably null Het
Tsc22d1 T G 14: 76,655,696 (GRCm39) V643G probably benign Het
Vangl2 A T 1: 171,837,132 (GRCm39) L226I probably damaging Het
Vps35l T A 7: 118,406,232 (GRCm39) D605E probably damaging Het
Wnt3a A T 11: 59,140,626 (GRCm39) C297S probably damaging Het
Wwc1 T C 11: 35,778,930 (GRCm39) K301E possibly damaging Het
Zfhx4 C T 3: 5,464,039 (GRCm39) T1399I possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
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'- GACTGGAGATGTCTGCTCTG -3'
(R):5'- TGACAGCAGTAGGCATGTCG -3'

Sequencing Primer
(F):5'- CTGCTCTGGGGTTGGCCAG -3'
(R):5'- TCGGCCTGTACAGAGAGTTCAAAC -3'
Posted On 2016-05-10