Incidental Mutation 'R7874:Izumo1r'
ID 608327
Institutional Source Beutler Lab
Gene Symbol Izumo1r
Ensembl Gene ENSMUSG00000031933
Gene Name IZUMO1 receptor, JUNO
Synonyms 0910001L11Rik, Juno, Folbp3, Folr4
MMRRC Submission 045926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7874 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14797110-14815245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14811875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 171 (Y171F)
Ref Sequence ENSEMBL: ENSMUSP00000034409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034409] [ENSMUST00000069408] [ENSMUST00000117620] [ENSMUST00000121116] [ENSMUST00000148155]
AlphaFold Q9EQF4
Predicted Effect probably benign
Transcript: ENSMUST00000034409
AA Change: Y171F

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034409
Gene: ENSMUSG00000031933
AA Change: Y171F

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: 98.9%
Validation Efficiency 98% (57/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C A 3: 6,685,201 (GRCm39) K84N probably damaging Het
Aacs T C 5: 125,583,271 (GRCm39) F276L possibly damaging Het
Aicda T A 6: 122,538,908 (GRCm39) I179N probably damaging Het
Anks6 T A 4: 47,049,275 (GRCm39) H210L unknown Het
Ano1 G A 7: 144,175,461 (GRCm39) R486W probably damaging Het
Aoc1l3 A G 6: 48,965,600 (GRCm39) N536S possibly damaging Het
Atp8b1 A G 18: 64,704,095 (GRCm39) V341A probably benign Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam19 A T 7: 19,620,363 (GRCm39) D89E probably damaging Het
Cerkl T A 2: 79,168,981 (GRCm39) R407S probably damaging Het
Chl1 A G 6: 103,667,224 (GRCm39) T389A probably benign Het
Dcn A G 10: 97,346,056 (GRCm39) probably null Het
Defa39 C A 8: 22,192,812 (GRCm39) R61S possibly damaging Het
Dhtkd1 T C 2: 5,922,485 (GRCm39) Q558R possibly damaging Het
Dhx36 C A 3: 62,396,052 (GRCm39) V452L probably benign Het
Dlg5 A G 14: 24,185,687 (GRCm39) V1906A probably damaging Het
Emc4 T C 2: 112,194,178 (GRCm39) T159A probably damaging Het
Fstl5 C A 3: 76,569,093 (GRCm39) P582Q probably benign Het
Jag2 C T 12: 112,879,566 (GRCm39) V401M probably damaging Het
Jph2 C T 2: 163,217,762 (GRCm39) G305S probably damaging Het
Kbtbd13 C A 9: 65,297,584 (GRCm39) V451L probably benign Het
Map3k12 T C 15: 102,409,077 (GRCm39) T813A possibly damaging Het
Mast4 A G 13: 102,875,783 (GRCm39) L1295P probably damaging Het
Mia2 T A 12: 59,155,374 (GRCm39) D362E probably damaging Het
Mospd3 T C 5: 137,598,290 (GRCm39) Y77C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mup8 T A 4: 60,222,420 (GRCm39) H17L probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ndnf A T 6: 65,680,413 (GRCm39) M231L probably benign Het
Obscn T G 11: 59,024,102 (GRCm39) T523P probably damaging Het
Or2t46 T C 11: 58,472,573 (GRCm39) V301A possibly damaging Het
P4htm G T 9: 108,474,148 (GRCm39) A130E probably benign Het
Phc3 A T 3: 30,990,863 (GRCm39) D439E probably benign Het
Phlpp1 A G 1: 106,317,603 (GRCm39) I1275V probably benign Het
Poln A T 5: 34,181,694 (GRCm39) I719N probably damaging Het
Ptch2 T A 4: 116,963,161 (GRCm39) L216Q possibly damaging Het
Rarres2 T A 6: 48,549,079 (GRCm39) K41N probably benign Het
Rasal3 C T 17: 32,615,681 (GRCm39) E386K possibly damaging Het
Rev3l T C 10: 39,698,491 (GRCm39) I996T possibly damaging Het
Rreb1 A G 13: 38,131,100 (GRCm39) N36S probably damaging Het
Serpinb9d T A 13: 33,386,654 (GRCm39) probably null Het
Slc14a2 A G 18: 78,203,983 (GRCm39) V526A probably benign Het
Slc45a4 T C 15: 73,456,184 (GRCm39) probably null Het
Srrm2 G A 17: 24,034,652 (GRCm39) R432H unknown Het
Th G A 7: 142,449,308 (GRCm39) R266* probably null Het
Tln1 T C 4: 43,538,041 (GRCm39) Y1853C probably damaging Het
Tln1 A T 4: 43,555,606 (GRCm39) D169E probably damaging Het
Tmcc3 G A 10: 94,386,889 (GRCm39) probably null Het
Tnxb A G 17: 34,930,417 (GRCm39) E2034G probably damaging Het
Top6bl C T 19: 4,708,451 (GRCm39) C347Y probably damaging Het
Ttc4 T C 4: 106,522,881 (GRCm39) T346A probably benign Het
Vmn2r5 A T 3: 64,398,453 (GRCm39) V842E probably damaging Het
Vmn2r82 T G 10: 79,232,345 (GRCm39) N781K probably damaging Het
Zdhhc17 A T 10: 110,817,978 (GRCm39) Y67N possibly damaging Het
Zfp273 A G 13: 67,973,558 (GRCm39) T229A probably benign Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zswim8 A G 14: 20,773,217 (GRCm39) H1769R probably damaging Het
Zzef1 T C 11: 72,750,479 (GRCm39) V929A 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
R8082:Izumo1r UTSW 9 14,805,373 (GRCm39) missense unknown
R8842:Izumo1r UTSW 9 14,813,705 (GRCm39) missense possibly damaging 0.49
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'- GAGAAATTCAGGTGCCAGCC -3'
(R):5'- AATCCAACTGGCTCCATGGC -3'

Sequencing Primer
(F):5'- CCCAACATGAATAGCCTGAGGATG -3'
(R):5'- TCCATGGCTGGGACTGGAG -3'
Posted On 2019-12-20