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: 0.245) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107587642-107593385 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107592091 bp (GRCm38)
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000195746
AA Change: E53G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
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: 119,466,123 V7E possibly damaging Het
Aars2 G A 17: 45,514,609 G333S probably damaging Het
Aen T A 7: 78,905,844 I85N probably damaging Het
Ahnak C A 19: 9,008,025 H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,580,043 R41H possibly damaging Het
Bpifb9b T A 2: 154,309,364 W2R probably damaging Het
Caprin2 A G 6: 148,877,892 I139T probably benign Het
Cdhr3 T A 12: 33,053,475 N381I probably damaging Het
Cecr2 A G 6: 120,758,050 Y721C probably damaging Het
Cherp G T 8: 72,470,881 A125D probably damaging Het
Cped1 G A 6: 22,138,715 probably null Het
Ctdp1 T A 18: 80,459,297 probably null Het
Cyp2c55 T C 19: 39,018,667 I169T probably benign Het
Cyp4a31 T C 4: 115,574,920 L418P possibly damaging Het
Efcab7 T C 4: 99,829,390 probably benign Het
Efcab8 T C 2: 153,810,268 W466R possibly damaging Het
Ehd3 C A 17: 73,805,413 N57K probably benign Het
Ern2 C A 7: 122,173,272 K654N probably damaging Het
Fbxo18 A T 2: 11,748,446 F879L probably benign Het
Gde1 T C 7: 118,691,781 D92G probably null Het
Gm4788 A T 1: 139,753,011 C256* probably null Het
Heatr5b A G 17: 78,803,434 V995A probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,746,042 probably benign Het
Itgb4 T C 11: 115,998,137 V1102A possibly damaging Het
Itgb6 A T 2: 60,605,276 I710N probably damaging Het
Kif1a T C 1: 93,019,983 K1578E probably damaging Het
Kif9 T C 9: 110,517,834 probably null Het
Kitl T C 10: 100,089,233 *57Q probably null Het
Lrat C A 3: 82,903,505 V70F probably damaging Het
Lrrc9 T A 12: 72,487,023 M1022K probably benign Het
Muc16 T C 9: 18,655,599 T1875A unknown Het
Mup4 T A 4: 59,957,890 N171I probably damaging Het
Npas4 G A 19: 4,986,375 T587I probably damaging Het
Oas3 A G 5: 120,771,230 V217A probably benign Het
Olfr786 A G 10: 129,437,688 N292S possibly damaging Het
Osbp C A 19: 11,977,953 A323D possibly damaging Het
Panx2 G A 15: 89,067,618 R96H probably damaging Het
Pcdhb18 G A 18: 37,490,484 R289Q probably benign Het
Piezo2 T C 18: 63,121,270 R385G possibly damaging Het
Pkn2 T C 3: 142,811,599 T476A probably damaging Het
Plekha4 T C 7: 45,553,802 probably benign Het
Ppfibp2 T C 7: 107,681,762 S94P probably damaging Het
Pramel7 T A 2: 87,489,663 I429L probably benign Het
Rif1 A G 2: 52,085,053 K325E probably damaging Het
Ror2 T C 13: 53,110,542 Y826C probably damaging Het
Rsph10b G A 5: 143,959,746 G19R probably damaging Het
Slc20a1 A G 2: 129,208,004 N361D probably damaging Het
Slc26a9 A G 1: 131,763,909 D630G probably benign Het
Smtnl2 G A 11: 72,401,399 A274V probably damaging Het
Trank1 T C 9: 111,352,246 probably null Het
Tspan10 T A 11: 120,444,542 C159* probably null Het
Uba6 G A 5: 86,164,765 T23I probably benign Het
Vmn2r74 T C 7: 85,952,451 T660A possibly damaging Het
Vwa5b1 T C 4: 138,578,672 N905S probably benign Het
Zfp831 T C 2: 174,646,421 L963P possibly damaging Het
Zfp990 T A 4: 145,537,789 N452K probably benign Het
Other mutations in Ifrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Ifrd2 APN 9 107592132 missense probably benign 0.10
IGL02185:Ifrd2 APN 9 107591091 missense probably benign 0.01
IGL02737:Ifrd2 APN 9 107592170 missense probably benign
R0104:Ifrd2 UTSW 9 107587917 missense probably damaging 0.98
R2072:Ifrd2 UTSW 9 107592545 missense probably damaging 1.00
R2850:Ifrd2 UTSW 9 107591709 splice site probably benign
R3015:Ifrd2 UTSW 9 107590022 missense probably null 1.00
R3727:Ifrd2 UTSW 9 107591682 nonsense probably null
R5175:Ifrd2 UTSW 9 107590625 missense probably damaging 1.00
R5580:Ifrd2 UTSW 9 107592312 missense probably damaging 1.00
R5593:Ifrd2 UTSW 9 107590175 missense probably damaging 1.00
R6905:Ifrd2 UTSW 9 107587890 start codon destroyed probably null 0.98
R7414:Ifrd2 UTSW 9 107590171 missense possibly damaging 0.60
R7532:Ifrd2 UTSW 9 107592522 missense probably damaging 0.99
R8934:Ifrd2 UTSW 9 107592270 splice site probably benign
R9369:Ifrd2 UTSW 9 107590603 nonsense probably null
R9553:Ifrd2 UTSW 9 107591086 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