Incidental Mutation 'R1637:Izumo1r'
ID 173250
Institutional Source Beutler Lab
Gene Symbol Izumo1r
Ensembl Gene ENSMUSG00000031933
Gene Name IZUMO1 receptor, JUNO
Synonyms 0910001L11Rik, Juno, Folbp3, Folr4
MMRRC Submission 039673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1637 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 14797110-14815245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14813105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 56 (C56R)
Ref Sequence ENSEMBL: ENSMUSP00000118680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034409] [ENSMUST00000069408] [ENSMUST00000117620] [ENSMUST00000121116] [ENSMUST00000148155]
AlphaFold Q9EQF4
Predicted Effect probably damaging
Transcript: ENSMUST00000034409
AA Change: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034409
Gene: ENSMUSG00000031933
AA Change: C56R

DomainStartEndE-ValueType
Pfam:Folate_rec 26 202 4e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069408
AA Change: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063632
Gene: ENSMUSG00000031933
AA Change: C56R

DomainStartEndE-ValueType
Pfam:Folate_rec 26 159 5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117620
AA Change: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113459
Gene: ENSMUSG00000031933
AA Change: C56R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 26 170 1.2e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121116
AA Change: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113387
Gene: ENSMUSG00000031933
AA Change: C56R

DomainStartEndE-ValueType
Pfam:Folate_rec 26 176 1.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148155
AA Change: C56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118680
Gene: ENSMUSG00000031933
AA Change: C56R

DomainStartEndE-ValueType
Pfam:Folate_rec 26 143 1.6e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T A 5: 109,886,858 (GRCm39) H50L probably benign Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Agpat5 A G 8: 18,931,827 (GRCm39) R316G probably benign Het
Ankrd39 G A 1: 36,578,573 (GRCm39) Q151* probably null Het
Arl13b T C 16: 62,651,147 (GRCm39) D30G probably damaging Het
Atpaf1 A G 4: 115,645,499 (GRCm39) S123G probably benign Het
Bicra A G 7: 15,706,614 (GRCm39) S1276P probably benign Het
Car1 T C 3: 14,842,846 (GRCm39) I60V possibly damaging Het
Cnbd2 A G 2: 156,215,644 (GRCm39) I411V probably damaging Het
Cyp2c37 A T 19: 39,990,426 (GRCm39) K375* probably null Het
Cysrt1 T C 2: 25,129,297 (GRCm39) I72V probably benign Het
Dock9 T A 14: 121,889,187 (GRCm39) D312V possibly damaging Het
Ecd T C 14: 20,396,760 (GRCm39) I42V probably damaging Het
Ercc5 A G 1: 44,206,694 (GRCm39) T536A probably benign Het
Gjd2 A T 2: 113,841,789 (GRCm39) Y229* probably null Het
Gramd1b A T 9: 40,215,834 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,140,281 (GRCm39) T336A probably benign Het
Hjurp G A 1: 88,193,843 (GRCm39) S279F probably benign Het
Ift140 C T 17: 25,244,608 (GRCm39) L152F probably benign Het
Kif7 T C 7: 79,352,585 (GRCm39) E850G probably damaging Het
Larp4b C G 13: 9,201,133 (GRCm39) T335S probably benign Het
Lmo7 A T 14: 102,118,268 (GRCm39) R42S probably damaging Het
Lrrk2 T G 15: 91,618,261 (GRCm39) L920R probably benign Het
Mapk8 G A 14: 33,132,919 (GRCm39) R6C probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ndufb8 C T 19: 44,543,474 (GRCm39) M66I probably benign Het
Nkpd1 T C 7: 19,257,904 (GRCm39) I411T probably benign Het
Nrxn3 A G 12: 89,321,238 (GRCm39) N382S possibly damaging Het
Or2t47 A T 11: 58,442,246 (GRCm39) V273E possibly damaging Het
Or4c114 A T 2: 88,905,396 (GRCm39) L13Q probably damaging Het
Pear1 T C 3: 87,664,060 (GRCm39) E303G probably damaging Het
Plekhg4 T A 8: 106,108,413 (GRCm39) M1047K probably benign Het
Pofut1 T G 2: 153,107,709 (GRCm39) F268C probably damaging Het
Psrc1 G T 3: 108,292,609 (GRCm39) S134I probably damaging Het
Slc6a2 A T 8: 93,708,618 (GRCm39) I245F probably benign Het
Slc9a1 T C 4: 133,149,534 (GRCm39) S787P probably benign Het
Sorcs3 T A 19: 48,736,798 (GRCm39) probably null Het
Syne2 C A 12: 76,042,776 (GRCm39) H3916N probably damaging Het
Taar6 A G 10: 23,861,079 (GRCm39) S156P probably benign Het
Tnn A G 1: 159,975,170 (GRCm39) F86L probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttll8 A G 15: 88,798,647 (GRCm39) V696A probably benign Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r18 A T 5: 151,508,222 (GRCm39) C301S probably damaging Het
Xdh T C 17: 74,207,573 (GRCm39) Y928C probably benign Het
Zfand1 G A 3: 10,411,042 (GRCm39) A104V 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
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
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'- TCTTATCCCTAGAGGGGCAGCATC -3'
(R):5'- TGGAGCAGACACCTGGAAGCTATAC -3'

Sequencing Primer
(F):5'- TGCCTCCTGTAGATGCCAG -3'
(R):5'- GACACCTGGAAGCTATACTTTGTG -3'
Posted On 2014-04-24