Incidental Mutation 'R8842:Izumo1r'
ID 674478
Institutional Source Beutler Lab
Gene Symbol Izumo1r
Ensembl Gene ENSMUSG00000031933
Gene Name IZUMO1 receptor, JUNO
Synonyms 0910001L11Rik, Juno, Folbp3, Folr4
MMRRC Submission 068669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8842 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14797110-14815245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14813705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 38 (G38S)
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: G38S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034409
Gene: ENSMUSG00000031933
AA Change: G38S

DomainStartEndE-ValueType
Pfam:Folate_rec 26 202 4e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000069408
AA Change: G38S

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063632
Gene: ENSMUSG00000031933
AA Change: G38S

DomainStartEndE-ValueType
Pfam:Folate_rec 26 159 5e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117620
AA Change: G38S

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113459
Gene: ENSMUSG00000031933
AA Change: G38S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 26 170 1.2e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121116
AA Change: G38S

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113387
Gene: ENSMUSG00000031933
AA Change: G38S

DomainStartEndE-ValueType
Pfam:Folate_rec 26 176 1.1e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148155
AA Change: G38S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118680
Gene: ENSMUSG00000031933
AA Change: G38S

DomainStartEndE-ValueType
Pfam:Folate_rec 26 143 1.6e-38 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap17 G A 7: 122,893,750 (GRCm39) P557S probably benign Het
Atad5 G T 11: 80,000,910 (GRCm39) D1014Y possibly damaging Het
Bmp6 T A 13: 38,530,359 (GRCm39) S151T probably benign Het
Bmp6 C T 13: 38,682,795 (GRCm39) Q459* probably null Het
Ccdc39 A G 3: 33,880,612 (GRCm39) Y452H probably damaging Het
Cenpj A G 14: 56,780,329 (GRCm39) Y961H probably damaging Het
Col6a6 A T 9: 105,655,166 (GRCm39) Y852N probably damaging Het
Cpne8 A G 15: 90,456,218 (GRCm39) I156T probably benign Het
Cul1 T A 6: 47,492,010 (GRCm39) L430Q probably damaging Het
Dhx30 A G 9: 109,914,296 (GRCm39) S1031P probably benign Het
Dhx9 A T 1: 153,338,335 (GRCm39) F774I possibly damaging Het
Fezf2 A C 14: 12,345,079 (GRCm38) M36R probably damaging Het
Gbp2b A T 3: 142,312,576 (GRCm39) I320L probably benign Het
Gemin6 T A 17: 80,533,115 (GRCm39) V16D possibly damaging Het
Gpr158 T A 2: 21,581,751 (GRCm39) V410D possibly damaging Het
H2-DMb2 C T 17: 34,366,904 (GRCm39) T112M probably damaging Het
Hecw2 T C 1: 53,990,033 (GRCm39) T114A Het
Herc2 G T 7: 55,738,059 (GRCm39) R234L probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Katna1 A G 10: 7,614,600 (GRCm39) D36G probably benign Het
Kdm1b G T 13: 47,231,832 (GRCm39) R697L probably damaging Het
Kif1b T A 4: 149,338,196 (GRCm39) I483F probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrp1b G A 2: 41,158,417 (GRCm39) T1714I Het
Man2a2 A G 7: 80,003,067 (GRCm39) L1014P probably damaging Het
Marf1 T C 16: 13,935,169 (GRCm39) E1533G probably damaging Het
Mfsd2a A T 4: 122,845,623 (GRCm39) I176N probably damaging Het
Mterf1b T A 5: 4,246,961 (GRCm39) F201I possibly damaging Het
Neurod2 T C 11: 98,218,507 (GRCm39) E219G probably damaging Het
Nln T C 13: 104,209,486 (GRCm39) E29G probably benign Het
Obscn G A 11: 58,892,861 (GRCm39) T6795M possibly damaging Het
Or1e1c G T 11: 73,266,186 (GRCm39) V207F probably benign Het
Or1i2 A G 10: 78,447,635 (GRCm39) V280A possibly damaging Het
Or1n1 C A 2: 36,749,539 (GRCm39) A274S probably benign Het
Or4c118 C T 2: 88,975,074 (GRCm39) V98I probably benign Het
Otog A T 7: 45,895,948 (GRCm39) I138F probably damaging Het
Pdcd2l G A 7: 33,884,192 (GRCm39) Q337* probably null Het
Ptprk A T 10: 28,442,497 (GRCm39) N859I probably damaging Het
Pygl G T 12: 70,274,368 (GRCm39) probably benign Het
Sema4d C T 13: 51,863,018 (GRCm39) A447T probably benign Het
Slc27a6 A T 18: 58,712,888 (GRCm39) S237C probably benign Het
Smarcc1 G A 9: 110,051,199 (GRCm39) M1006I possibly damaging Het
Sult2a2 G T 7: 13,472,192 (GRCm39) G130C probably damaging Het
Trpm7 T A 2: 126,663,131 (GRCm39) H1039L probably benign Het
Wdr64 T G 1: 175,599,893 (GRCm39) N573K probably benign Het
Zbtb48 T C 4: 152,104,496 (GRCm39) I611V probably benign Het
Zer1 T C 2: 30,001,062 (GRCm39) S120G possibly damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging 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
R9610:Izumo1r UTSW 9 14,811,840 (GRCm39) missense possibly damaging 0.89
X0062:Izumo1r UTSW 9 14,813,089 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAACAGCTTAGTGGCAAAG -3'
(R):5'- CAACCTAAGGAAGCCTTGGAGC -3'

Sequencing Primer
(F):5'- GGCAAAGCCCTAGATGGACC -3'
(R):5'- CCTCTTCAGTGCCTGGTGG -3'
Posted On 2021-07-15