Incidental Mutation 'R6801:Rftn2'
ID 533313
Institutional Source Beutler Lab
Gene Symbol Rftn2
Ensembl Gene ENSMUSG00000025978
Gene Name raftlin family member 2
Synonyms 3222401M22Rik, 2700010E02Rik
MMRRC Submission 044914-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6801 (G1)
Quality Score 201.009
Status Validated
Chromosome 1
Chromosomal Location 55209318-55265941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55233418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 379 (I379T)
Ref Sequence ENSEMBL: ENSMUSP00000027121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000132055]
AlphaFold Q8CHX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000027121
AA Change: I379T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: I379T

DomainStartEndE-ValueType
Pfam:Raftlin 1 439 2e-180 PFAM
low complexity region 467 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132055
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 100% (49/49)
Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,174,680 (GRCm39) Y695F possibly damaging Het
Arhgap20 A G 9: 51,759,892 (GRCm39) D545G probably damaging Het
Arhgef11 A G 3: 87,643,159 (GRCm39) E1457G possibly damaging Het
Atp2b4 T A 1: 133,655,524 (GRCm39) I747F probably damaging Het
Bche T A 3: 73,609,133 (GRCm39) I98L probably benign Het
C2cd6 TC T 1: 59,133,742 (GRCm39) probably null Het
Ccdc90b A G 7: 92,216,943 (GRCm39) T72A probably benign Het
Chrd A G 16: 20,554,497 (GRCm39) E352G possibly damaging Het
Csmd2 A G 4: 128,277,743 (GRCm39) E953G probably benign Het
Dchs2 T A 3: 83,035,841 (GRCm39) M196K probably benign Het
Ddx10 G A 9: 53,159,207 (GRCm39) Q33* probably null Het
Dennd4b T A 3: 90,176,086 (GRCm39) V201E probably damaging Het
Fbn2 T A 18: 58,246,420 (GRCm39) H494L probably benign Het
Fbxw13 G A 9: 109,023,795 (GRCm39) A83V probably null Het
Fxr1 A G 3: 34,108,452 (GRCm39) D321G possibly damaging Het
Galm A G 17: 80,489,053 (GRCm39) H233R probably benign Het
Gm7298 A G 6: 121,752,768 (GRCm39) T837A probably benign Het
Gmppa C G 1: 75,418,391 (GRCm39) S258C possibly damaging Het
Hk1 T G 10: 62,116,910 (GRCm39) E645A probably damaging Het
Igkv1-132 A G 6: 67,737,324 (GRCm39) T97A probably damaging Het
Kcnc1 T C 7: 46,084,716 (GRCm39) F547L probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lingo2 T A 4: 35,709,566 (GRCm39) E138V probably damaging Het
Myb T C 10: 21,020,865 (GRCm39) probably null Het
Mybl1 A G 1: 9,753,353 (GRCm39) V243A probably benign Het
Mylk4 C T 13: 32,912,393 (GRCm39) S189N probably benign Het
Or13c7 T A 4: 43,855,206 (GRCm39) L299* probably null Het
Or2y16 A G 11: 49,335,169 (GRCm39) M164V probably benign Het
Or4k77 A T 2: 111,199,394 (GRCm39) Q139L probably benign Het
Or4x12-ps1 A T 2: 89,915,953 (GRCm39) I284N probably damaging Het
Or5w1b A G 2: 87,475,667 (GRCm39) Y267H probably benign Het
Or8g19 A T 9: 39,055,506 (GRCm39) I37F probably benign Het
Oxld1 A T 11: 120,347,650 (GRCm39) D182E probably damaging Het
Phf13 A T 4: 152,076,017 (GRCm39) L295Q probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prss33 A G 17: 24,053,813 (GRCm39) L88P possibly damaging Het
Ralgds A G 2: 28,438,448 (GRCm39) Y596C probably damaging Het
Rnf214 C T 9: 45,807,403 (GRCm39) E267K probably damaging Het
Rpp14 T C 14: 8,083,717 (GRCm38) probably benign Het
Rpusd2 A G 2: 118,865,876 (GRCm39) Y191C probably damaging Het
Serpinb9c T A 13: 33,341,807 (GRCm39) M1L probably benign Het
Shroom3 A G 5: 93,088,795 (GRCm39) D434G probably damaging Het
Smc5 G A 19: 23,192,010 (GRCm39) S888L probably benign Het
Suv39h2 C T 2: 3,465,458 (GRCm39) R299K probably benign Het
Trappc4 A T 9: 44,315,685 (GRCm39) I176N probably damaging Het
Trim12c A T 7: 103,997,337 (GRCm39) V73E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Other mutations in Rftn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Rftn2 APN 1 55,243,444 (GRCm39) missense probably damaging 1.00
IGL01691:Rftn2 APN 1 55,253,445 (GRCm39) missense probably damaging 1.00
IGL02412:Rftn2 APN 1 55,245,497 (GRCm39) missense probably benign 0.01
IGL02458:Rftn2 APN 1 55,250,351 (GRCm39) nonsense probably null
1mM(1):Rftn2 UTSW 1 55,245,754 (GRCm39) missense possibly damaging 0.94
R0446:Rftn2 UTSW 1 55,253,354 (GRCm39) missense probably damaging 0.99
R1167:Rftn2 UTSW 1 55,243,458 (GRCm39) missense probably damaging 1.00
R1172:Rftn2 UTSW 1 55,250,376 (GRCm39) missense probably damaging 0.99
R4171:Rftn2 UTSW 1 55,253,429 (GRCm39) missense probably damaging 1.00
R4350:Rftn2 UTSW 1 55,233,440 (GRCm39) missense probably damaging 1.00
R4487:Rftn2 UTSW 1 55,241,311 (GRCm39) missense possibly damaging 0.74
R4833:Rftn2 UTSW 1 55,253,399 (GRCm39) missense possibly damaging 0.56
R4863:Rftn2 UTSW 1 55,211,198 (GRCm39) missense probably benign 0.01
R5719:Rftn2 UTSW 1 55,253,445 (GRCm39) missense probably damaging 1.00
R6937:Rftn2 UTSW 1 55,233,508 (GRCm39) critical splice acceptor site probably null
R6939:Rftn2 UTSW 1 55,233,508 (GRCm39) critical splice acceptor site probably null
R7344:Rftn2 UTSW 1 55,265,311 (GRCm39) nonsense probably null
R7401:Rftn2 UTSW 1 55,233,401 (GRCm39) critical splice donor site probably null
R7517:Rftn2 UTSW 1 55,234,708 (GRCm39) missense probably damaging 1.00
R8512:Rftn2 UTSW 1 55,253,324 (GRCm39) missense probably damaging 1.00
R9207:Rftn2 UTSW 1 55,224,149 (GRCm39) missense probably damaging 1.00
R9501:Rftn2 UTSW 1 55,241,355 (GRCm39) missense possibly damaging 0.66
X0022:Rftn2 UTSW 1 55,253,295 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GTATTTGAGGCCCTTGGGAC -3'
(R):5'- CCATGACACTGTTCCACTGGAC -3'

Sequencing Primer
(F):5'- GGACAATACCAATGACAGGGACC -3'
(R):5'- CACACTACAACACTCATCAGCC -3'
Posted On 2018-09-12