Incidental Mutation 'R5451:Irf2bpl'
ID 434598
Institutional Source Beutler Lab
Gene Symbol Irf2bpl
Ensembl Gene ENSMUSG00000034168
Gene Name interferon regulatory factor 2 binding protein-like
Synonyms 6430527G18Rik
MMRRC Submission 043016-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R5451 (G1)
Quality Score 176
Status Validated
Chromosome 12
Chromosomal Location 86927475-86931572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86928846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 609 (V609A)
Ref Sequence ENSEMBL: ENSMUSP00000041070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038422]
AlphaFold Q8K3X4
Predicted Effect probably benign
Transcript: ENSMUST00000038422
AA Change: V609A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: V609A

DomainStartEndE-ValueType
Pfam:IRF-2BP1_2 10 61 2e-38 PFAM
low complexity region 70 78 N/A INTRINSIC
coiled coil region 84 113 N/A INTRINSIC
low complexity region 169 178 N/A INTRINSIC
low complexity region 195 207 N/A INTRINSIC
low complexity region 214 234 N/A INTRINSIC
low complexity region 258 300 N/A INTRINSIC
coiled coil region 314 350 N/A INTRINSIC
low complexity region 496 519 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
low complexity region 627 646 N/A INTRINSIC
PDB:2CS3|A 684 765 7e-52 PDB
SCOP:d1fbva4 692 738 4e-6 SMART
Blast:RING 694 745 4e-24 BLAST
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,076 (GRCm39) F1142S possibly damaging Het
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Calhm2 T A 19: 47,121,314 (GRCm39) Y285F possibly damaging Het
Casr T C 16: 36,330,270 (GRCm39) T355A probably damaging Het
Ccnq T A 11: 78,642,115 (GRCm39) Q125L possibly damaging Het
Clca3a1 T C 3: 144,733,747 (GRCm39) Y63C probably damaging Het
Cntnap5a T C 1: 115,612,873 (GRCm39) S3P probably benign Het
Col27a1 G A 4: 63,143,476 (GRCm39) G388D probably damaging Het
Cwh43 T C 5: 73,589,256 (GRCm39) M447T probably benign Het
Dnah7b G A 1: 46,281,179 (GRCm39) G2747S possibly damaging Het
Fbxo7 A G 10: 85,864,901 (GRCm39) S51G probably benign Het
Gabbr2 T A 4: 46,684,294 (GRCm39) Y660F probably benign Het
Galnt15 A G 14: 31,751,868 (GRCm39) E140G probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gsap T A 5: 21,422,445 (GRCm39) L138Q probably damaging Het
Igflr1 A G 7: 30,265,747 (GRCm39) N57S possibly damaging Het
Ighv13-2 A G 12: 114,321,473 (GRCm39) F89L probably damaging Het
Jkampl A G 6: 73,445,850 (GRCm39) V233A probably benign Het
Lingo1 T G 9: 56,527,711 (GRCm39) I293L probably damaging Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lsm2 T C 17: 35,201,185 (GRCm39) probably benign Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Micall1 T A 15: 79,011,104 (GRCm39) probably null Het
Mpp7 T C 18: 7,442,855 (GRCm39) D156G probably null Het
Mybbp1a A G 11: 72,338,939 (GRCm39) D822G probably damaging Het
Naip2 A G 13: 100,325,368 (GRCm39) V180A probably benign Het
Nol10 T A 12: 17,409,103 (GRCm39) Y159* probably null Het
Nphp3 A G 9: 103,919,221 (GRCm39) T1290A probably benign Het
Or12e1 T A 2: 87,022,796 (GRCm39) V255E probably damaging Het
Or5aq1b T C 2: 86,902,341 (GRCm39) I46V probably damaging Het
Or7g20 T C 9: 18,946,787 (GRCm39) Y123H probably damaging Het
Pcsk5 T A 19: 17,440,720 (GRCm39) Y1290F possibly damaging Het
Rab42 T C 4: 132,029,827 (GRCm39) N132D probably benign Het
Rfx3 T G 19: 27,827,359 (GRCm39) T76P probably damaging Het
Rps13-ps2 G T 7: 88,180,036 (GRCm39) noncoding transcript Het
Slc12a3 A G 8: 95,083,655 (GRCm39) D894G possibly damaging Het
Slc25a15 G A 8: 22,879,983 (GRCm39) T54I probably benign Het
Slco1c1 A T 6: 141,505,604 (GRCm39) Q461L probably benign Het
Slfn5 T G 11: 82,850,912 (GRCm39) I403R probably damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Tbc1d32 T A 10: 56,071,571 (GRCm39) T318S possibly damaging Het
Tiam2 G T 17: 3,479,271 (GRCm39) R668M probably damaging Het
Tle7 A T 8: 110,836,503 (GRCm39) I160F probably damaging Het
Trgj4 G T 13: 19,526,335 (GRCm39) probably benign Het
Trim9 A G 12: 70,393,603 (GRCm39) S114P probably benign Het
Trp53i11 T C 2: 93,030,200 (GRCm39) L169P possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r190-ps A G 13: 22,328,901 (GRCm39) noncoding transcript Het
Other mutations in Irf2bpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03343:Irf2bpl APN 12 86,929,713 (GRCm39) missense possibly damaging 0.72
twig UTSW 12 86,930,238 (GRCm39) missense probably benign 0.01
PIT1430001:Irf2bpl UTSW 12 86,930,229 (GRCm39) missense possibly damaging 0.91
R0218:Irf2bpl UTSW 12 86,929,398 (GRCm39) missense probably benign 0.02
R0371:Irf2bpl UTSW 12 86,928,417 (GRCm39) nonsense probably null
R0426:Irf2bpl UTSW 12 86,929,870 (GRCm39) missense probably benign 0.06
R1351:Irf2bpl UTSW 12 86,929,398 (GRCm39) missense probably benign 0.02
R2881:Irf2bpl UTSW 12 86,929,551 (GRCm39) missense probably damaging 0.98
R3610:Irf2bpl UTSW 12 86,928,631 (GRCm39) missense probably benign 0.03
R4206:Irf2bpl UTSW 12 86,929,810 (GRCm39) missense probably benign 0.00
R4240:Irf2bpl UTSW 12 86,929,691 (GRCm39) missense possibly damaging 0.73
R4938:Irf2bpl UTSW 12 86,928,892 (GRCm39) missense possibly damaging 0.73
R6213:Irf2bpl UTSW 12 86,930,367 (GRCm39) missense probably benign 0.18
R6491:Irf2bpl UTSW 12 86,930,238 (GRCm39) missense probably benign 0.01
R6969:Irf2bpl UTSW 12 86,929,468 (GRCm39) missense possibly damaging 0.86
R7151:Irf2bpl UTSW 12 86,930,127 (GRCm39) missense probably benign 0.00
R7649:Irf2bpl UTSW 12 86,929,572 (GRCm39) missense possibly damaging 0.96
R7751:Irf2bpl UTSW 12 86,930,489 (GRCm39) missense probably damaging 0.99
R8711:Irf2bpl UTSW 12 86,928,496 (GRCm39) missense probably benign 0.03
R8857:Irf2bpl UTSW 12 86,929,359 (GRCm39) missense possibly damaging 0.96
X0066:Irf2bpl UTSW 12 86,928,424 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CTGTTGGCCATAGGGGAATC -3'
(R):5'- ACTGAAGCTCGGTGAGGAAC -3'

Sequencing Primer
(F):5'- GGTGTACTTGGTCCATGCCC -3'
(R):5'- CAGCAGTGGATGGCAAACC -3'
Posted On 2016-10-06