Incidental Mutation 'R9610:Izumo1r'
ID 724153
Institutional Source Beutler Lab
Gene Symbol Izumo1r
Ensembl Gene ENSMUSG00000031933
Gene Name IZUMO1 receptor, JUNO
Synonyms 0910001L11Rik, Juno, Folbp3, Folr4
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9610 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 14797110-14815245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 14811840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 183 (I183L)
Ref Sequence ENSEMBL: ENSMUSP00000034409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034409] [ENSMUST00000069408] [ENSMUST00000117620] [ENSMUST00000121116] [ENSMUST00000148155]
AlphaFold Q9EQF4
Predicted Effect possibly damaging
Transcript: ENSMUST00000034409
AA Change: I183L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034409
Gene: ENSMUSG00000031933
AA Change: I183L

DomainStartEndE-ValueType
Pfam:Folate_rec 26 202 4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069408
SMART Domains Protein: ENSMUSP00000063632
Gene: ENSMUSG00000031933

DomainStartEndE-ValueType
Pfam:Folate_rec 26 159 5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117620
SMART Domains Protein: ENSMUSP00000113459
Gene: ENSMUSG00000031933

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 26 170 1.2e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121116
SMART Domains Protein: ENSMUSP00000113387
Gene: ENSMUSG00000031933

DomainStartEndE-ValueType
Pfam:Folate_rec 26 176 1.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148155
SMART Domains Protein: ENSMUSP00000118680
Gene: ENSMUSG00000031933

DomainStartEndE-ValueType
Pfam:Folate_rec 26 143 1.6e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes female infertility. Homozygous null eggs do not fuse with normal sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,023,399 (GRCm39) T265S probably benign Het
Arhgef5 A G 6: 43,257,890 (GRCm39) I1311M probably damaging Het
Bcr T A 10: 74,990,743 (GRCm39) Y750N probably damaging Het
Bcr T A 10: 74,990,745 (GRCm39) Y750* probably null Het
Btbd16 T A 7: 130,407,595 (GRCm39) M295K probably benign Het
Ccdc88a T C 11: 29,427,316 (GRCm39) L1007P possibly damaging Het
Cnep1r1 A G 8: 88,860,457 (GRCm39) *126W probably null Het
Cstf1 T A 2: 172,214,984 (GRCm39) I35N probably benign Het
Cstpp1 T C 2: 91,135,127 (GRCm39) D111G probably damaging Het
Cul9 A G 17: 46,830,823 (GRCm39) L1690P possibly damaging Het
Dnm2 A T 9: 21,414,973 (GRCm39) K677* probably null Het
Dscaml1 C A 9: 45,579,522 (GRCm39) N356K possibly damaging Het
Dvl3 A G 16: 20,346,008 (GRCm39) D446G probably damaging Het
Ecm2 A G 13: 49,668,518 (GRCm39) N74D probably benign Het
Ecm2 A G 13: 49,681,216 (GRCm39) I450M probably damaging Het
Emc1 T A 4: 139,091,035 (GRCm39) D460E probably benign Het
Fhip2b T C 14: 70,824,258 (GRCm39) Y493C probably benign Het
Fuom T A 7: 139,679,828 (GRCm39) E121V possibly damaging Het
Fyco1 T C 9: 123,657,585 (GRCm39) T864A possibly damaging Het
Galk2 T C 2: 125,817,218 (GRCm39) Y336H probably damaging Het
Gcsh T A 8: 117,720,125 (GRCm39) Y14F probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gucy2g T C 19: 55,194,605 (GRCm39) I937M probably damaging Het
Hsp90ab1 T C 17: 45,880,600 (GRCm39) I370M possibly damaging Het
Hypk T C 2: 121,288,154 (GRCm39) S72P probably damaging Het
Kctd13 G T 7: 126,544,180 (GRCm39) G293C probably damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Krt13 T C 11: 100,012,318 (GRCm39) S2G probably benign Het
Mark4 C A 7: 19,167,338 (GRCm39) R467L possibly damaging Het
Mrps33 T A 6: 39,779,422 (GRCm39) K91M probably damaging Het
Muc5ac T A 7: 141,350,078 (GRCm39) V608D possibly damaging Het
Myb G A 10: 21,030,627 (GRCm39) Q57* probably null Het
Or51f1 T G 7: 102,506,147 (GRCm39) H114P probably damaging Het
Peg10 GCAC GCACCAC 6: 4,756,452 (GRCm39) probably benign Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Pip4k2c A C 10: 127,036,069 (GRCm39) L266R probably damaging Het
Plg T C 17: 12,609,213 (GRCm39) Y173H probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Ppp1r16b T A 2: 158,537,998 (GRCm39) Y40N probably damaging Het
Prl5a1 A G 13: 28,329,492 (GRCm39) E57G possibly damaging Het
Psmb10 A G 8: 106,664,144 (GRCm39) F75S probably benign Het
Ptprm C A 17: 67,000,483 (GRCm39) R1167M probably damaging Het
Rbm46 T C 3: 82,771,541 (GRCm39) H358R probably benign Het
Rgl1 A G 1: 152,397,115 (GRCm39) S684P probably benign Het
Rmnd5b T C 11: 51,517,869 (GRCm39) I162V probably damaging Het
Sh3d19 T C 3: 86,014,529 (GRCm39) V440A possibly damaging Het
Sik1 T A 17: 32,073,246 (GRCm39) K70M probably damaging Het
Slc44a4 C T 17: 35,147,793 (GRCm39) S611F probably benign Het
Stk32a A G 18: 43,430,620 (GRCm39) I177V probably benign Het
Syt7 G A 19: 10,421,459 (GRCm39) D548N probably benign Het
Tcf7l2 A G 19: 55,899,038 (GRCm39) D215G probably null Het
Tex14 T A 11: 87,377,084 (GRCm39) F143I probably damaging Het
Tjp3 A G 10: 81,119,411 (GRCm39) V26A possibly damaging Het
Tpx2 T A 2: 152,715,124 (GRCm39) V115D probably benign Het
Tubb2b C A 13: 34,311,742 (GRCm39) K350N probably damaging Het
Usf3 T C 16: 44,036,936 (GRCm39) V472A probably benign Het
Vps13b G T 15: 35,642,555 (GRCm39) G1389V possibly damaging Het
Vps39 T C 2: 120,172,485 (GRCm39) R183G probably damaging Het
Wnk4 G T 11: 101,159,250 (GRCm39) E556* probably null Het
Xpo7 T A 14: 70,925,617 (GRCm39) E474V probably benign Het
Zbtb18 A G 1: 177,275,341 (GRCm39) R234G probably null Het
Zc3h14 T A 12: 98,737,663 (GRCm39) I50N possibly damaging Het
Zfat A G 15: 68,051,655 (GRCm39) V713A possibly damaging Het
Zfp462 T C 4: 55,009,545 (GRCm39) S504P possibly damaging Het
Zmiz1 T C 14: 25,651,022 (GRCm39) V502A probably benign Het
Other mutations in Izumo1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Izumo1r APN 9 14,812,975 (GRCm39) missense probably damaging 1.00
R1579:Izumo1r UTSW 9 14,813,098 (GRCm39) missense probably benign 0.01
R1637:Izumo1r UTSW 9 14,813,105 (GRCm39) missense probably damaging 1.00
R5263:Izumo1r UTSW 9 14,812,976 (GRCm39) missense probably damaging 1.00
R5665:Izumo1r UTSW 9 14,812,145 (GRCm39) missense probably damaging 1.00
R7874:Izumo1r UTSW 9 14,811,875 (GRCm39) missense probably benign 0.38
R8082:Izumo1r UTSW 9 14,805,373 (GRCm39) missense unknown
R8842:Izumo1r UTSW 9 14,813,705 (GRCm39) missense possibly damaging 0.49
X0062:Izumo1r UTSW 9 14,813,089 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGAAATTCAGGTGCCAGCC -3'
(R):5'- TAACTACGCACTTGTGGCCC -3'

Sequencing Primer
(F):5'- CCCAACATGAATAGCCTGAGGATG -3'
(R):5'- ACTTGTGGCCCTCAGACTG -3'
Posted On 2022-09-12