Incidental Mutation 'R6255:Ifrd2'
ID 506062
Institutional Source Beutler Lab
Gene Symbol Ifrd2
Ensembl Gene ENSMUSG00000010048
Gene Name interferon-related developmental regulator 2
Synonyms 1810034A24Rik, SKMc15
MMRRC Submission 044372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107464917-107470237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107469290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 346 (E346G)
Ref Sequence ENSEMBL: ENSMUSP00000010192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010192] [ENSMUST00000040059] [ENSMUST00000195725]
AlphaFold Q9D8U0
Predicted Effect probably damaging
Transcript: ENSMUST00000010192
AA Change: E346G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: E346G

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:IFRD 31 340 7.3e-101 PFAM
Pfam:IFRD_C 385 438 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040059
SMART Domains Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_hydro_56 25 354 4.8e-122 PFAM
EGF 356 408 2.9e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192996
Predicted Effect probably damaging
Transcript: ENSMUST00000193140
AA Change: E2G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000195746
AA Change: E53G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194932
Predicted Effect probably benign
Transcript: ENSMUST00000195725
SMART Domains Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:IFRD 32 139 5.7e-28 PFAM
Meta Mutation Damage Score 0.3241 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,602,659 (GRCm39) V7E possibly damaging Het
Aars2 G A 17: 45,825,535 (GRCm39) G333S probably damaging Het
Aen T A 7: 78,555,592 (GRCm39) I85N probably damaging Het
Ahnak C A 19: 8,985,389 (GRCm39) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,568,487 (GRCm39) R41H possibly damaging Het
Bpifb9b T A 2: 154,151,284 (GRCm39) W2R probably damaging Het
Caprin2 A G 6: 148,779,390 (GRCm39) I139T probably benign Het
Cdhr3 T A 12: 33,103,474 (GRCm39) N381I probably damaging Het
Cecr2 A G 6: 120,735,011 (GRCm39) Y721C probably damaging Het
Cfhr4 A T 1: 139,680,749 (GRCm39) C256* probably null Het
Cherp G T 8: 73,224,725 (GRCm39) A125D probably damaging Het
Cped1 G A 6: 22,138,714 (GRCm39) probably null Het
Ctdp1 T A 18: 80,502,512 (GRCm39) probably null Het
Cyp2c55 T C 19: 39,007,111 (GRCm39) I169T probably benign Het
Cyp4a31 T C 4: 115,432,117 (GRCm39) L418P possibly damaging Het
Efcab7 T C 4: 99,717,627 (GRCm39) probably benign Het
Efcab8 T C 2: 153,652,188 (GRCm39) W466R possibly damaging Het
Ehd3 C A 17: 74,112,408 (GRCm39) N57K probably benign Het
Ern2 C A 7: 121,772,495 (GRCm39) K654N probably damaging Het
Fbh1 A T 2: 11,753,257 (GRCm39) F879L probably benign Het
Gde1 T C 7: 118,291,004 (GRCm39) D92G probably null Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,587,962 (GRCm39) probably benign Het
Itgb4 T C 11: 115,888,963 (GRCm39) V1102A possibly damaging Het
Itgb6 A T 2: 60,435,620 (GRCm39) I710N probably damaging Het
Kif1a T C 1: 92,947,705 (GRCm39) K1578E probably damaging Het
Kif9 T C 9: 110,346,902 (GRCm39) probably null Het
Kitl T C 10: 99,925,095 (GRCm39) *57Q probably null Het
Lrat C A 3: 82,810,812 (GRCm39) V70F probably damaging Het
Lrrc9 T A 12: 72,533,797 (GRCm39) M1022K probably benign Het
Muc16 T C 9: 18,566,895 (GRCm39) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm39) N171I probably damaging Het
Npas4 G A 19: 5,036,403 (GRCm39) T587I probably damaging Het
Oas3 A G 5: 120,909,295 (GRCm39) V217A probably benign Het
Or6c1b A G 10: 129,273,557 (GRCm39) N292S possibly damaging Het
Osbp C A 19: 11,955,317 (GRCm39) A323D possibly damaging Het
Panx2 G A 15: 88,951,821 (GRCm39) R96H probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Piezo2 T C 18: 63,254,341 (GRCm39) R385G possibly damaging Het
Pkn2 T C 3: 142,517,360 (GRCm39) T476A probably damaging Het
Plekha4 T C 7: 45,203,226 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,280,969 (GRCm39) S94P probably damaging Het
Pramel7 T A 2: 87,320,007 (GRCm39) I429L probably benign Het
Rif1 A G 2: 51,975,065 (GRCm39) K325E probably damaging Het
Ror2 T C 13: 53,264,578 (GRCm39) Y826C probably damaging Het
Rsph10b G A 5: 143,896,564 (GRCm39) G19R probably damaging Het
Slc20a1 A G 2: 129,049,924 (GRCm39) N361D probably damaging Het
Slc26a9 A G 1: 131,691,647 (GRCm39) D630G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Trank1 T C 9: 111,181,314 (GRCm39) probably null Het
Tspan10 T A 11: 120,335,368 (GRCm39) C159* probably null Het
Uba6 G A 5: 86,312,624 (GRCm39) T23I probably benign Het
Vmn2r74 T C 7: 85,601,659 (GRCm39) T660A possibly damaging Het
Vwa5b1 T C 4: 138,305,983 (GRCm39) N905S probably benign Het
Zfp831 T C 2: 174,488,214 (GRCm39) L963P possibly damaging Het
Zfp990 T A 4: 145,264,359 (GRCm39) N452K probably benign Het
Other mutations in Ifrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Ifrd2 APN 9 107,469,331 (GRCm39) missense probably benign 0.10
IGL02185:Ifrd2 APN 9 107,468,290 (GRCm39) missense probably benign 0.01
IGL02737:Ifrd2 APN 9 107,469,369 (GRCm39) missense probably benign
R0104:Ifrd2 UTSW 9 107,465,116 (GRCm39) missense probably damaging 0.98
R2072:Ifrd2 UTSW 9 107,469,744 (GRCm39) missense probably damaging 1.00
R2850:Ifrd2 UTSW 9 107,468,908 (GRCm39) splice site probably benign
R3015:Ifrd2 UTSW 9 107,467,221 (GRCm39) missense probably null 1.00
R3727:Ifrd2 UTSW 9 107,468,881 (GRCm39) nonsense probably null
R5175:Ifrd2 UTSW 9 107,467,824 (GRCm39) missense probably damaging 1.00
R5580:Ifrd2 UTSW 9 107,469,511 (GRCm39) missense probably damaging 1.00
R5593:Ifrd2 UTSW 9 107,467,374 (GRCm39) missense probably damaging 1.00
R6905:Ifrd2 UTSW 9 107,465,089 (GRCm39) start codon destroyed probably null 0.98
R7414:Ifrd2 UTSW 9 107,467,370 (GRCm39) missense possibly damaging 0.60
R7532:Ifrd2 UTSW 9 107,469,721 (GRCm39) missense probably damaging 0.99
R8934:Ifrd2 UTSW 9 107,469,469 (GRCm39) splice site probably benign
R9369:Ifrd2 UTSW 9 107,467,802 (GRCm39) nonsense probably null
R9553:Ifrd2 UTSW 9 107,468,285 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGTGAGGACATGAGTGACCC -3'
(R):5'- AATTAGCTACGGCCAGTCTGAAG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- TACGGCCAGTCTGAAGCAGTC -3'
Posted On 2018-02-28