Incidental Mutation 'R0446:Rftn2'
ID 39350
Institutional Source Beutler Lab
Gene Symbol Rftn2
Ensembl Gene ENSMUSG00000025978
Gene Name raftlin family member 2
Synonyms 3222401M22Rik, 2700010E02Rik
MMRRC Submission 038647-MU
Accession Numbers

Genbank: NM_028713.1; Ensembl: ENSMUST00000027121, ENSMUST00000114428
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0446 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 55170159-55226782 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55214195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 83 (I83K)
Ref Sequence ENSEMBL: ENSMUSP00000110071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000114428] [ENSMUST00000132055]
AlphaFold Q8CHX7
Predicted Effect probably damaging
Transcript: ENSMUST00000027121
AA Change: I83K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: I83K

DomainStartEndE-ValueType
Pfam:Raftlin 1 439 2e-180 PFAM
low complexity region 467 478 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114428
AA Change: I83K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: I83K

DomainStartEndE-ValueType
Pfam:Raftlin 1 319 8.4e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132055
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik G A 2: 91,304,764 T20I possibly damaging Het
4930435E12Rik G A 16: 38,828,702 T15I probably benign Het
4933434E20Rik A G 3: 90,064,459 T42A probably benign Het
Actr3b T A 5: 25,831,732 I181K probably damaging Het
Avl9 G T 6: 56,736,483 R242L probably benign Het
B3galt4 T C 17: 33,951,018 E82G probably benign Het
Bag1 G A 4: 40,936,609 T349I probably benign Het
Brip1 A T 11: 86,157,601 L305Q probably damaging Het
Cdipt A G 7: 126,978,264 T61A probably damaging Het
Cmya5 T A 13: 93,093,656 R1641S probably benign Het
Cog7 T C 7: 121,937,072 D515G probably benign Het
Cpsf4 T A 5: 145,177,244 L171Q probably damaging Het
Cuzd1 A T 7: 131,316,280 probably null Het
Dapk1 T A 13: 60,725,287 probably null Het
Diaph1 A G 18: 37,853,590 V1114A possibly damaging Het
Emx2 A T 19: 59,463,916 K211* probably null Het
Fam160b1 G A 19: 57,381,407 D461N probably benign Het
Fam170a T A 18: 50,280,632 C55S possibly damaging Het
Fbxw26 A G 9: 109,743,720 S119P probably benign Het
Fryl G A 5: 73,097,417 T894M possibly damaging Het
Gad1-ps C A 10: 99,445,521 noncoding transcript Het
Gm14124 A G 2: 150,268,073 T228A possibly damaging Het
Gss T C 2: 155,567,745 E257G probably benign Het
Klhdc1 A C 12: 69,283,308 S404R probably benign Het
Kmt2e T A 5: 23,497,534 probably null Het
Krt20 G A 11: 99,437,776 Q108* probably null Het
Lmnb1 T A 18: 56,743,259 S480T probably benign Het
Lyst T A 13: 13,638,048 M1015K probably benign Het
Mdm1 T G 10: 118,152,056 S290A probably benign Het
Mkln1 T A 6: 31,449,504 F238I probably damaging Het
Mrgprb3 A G 7: 48,643,236 V189A probably benign Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Neurod6 C T 6: 55,679,629 E8K probably benign Het
Nlrp12 T C 7: 3,234,029 I747V probably benign Het
Notch4 C T 17: 34,565,363 R43W possibly damaging Het
Obscn A T 11: 58,995,412 probably benign Het
Olfr1153 T C 2: 87,896,855 Y219H possibly damaging Het
Olfr1346 T C 7: 6,475,025 V305A probably benign Het
Olfr480 A T 7: 108,066,725 Y24* probably null Het
Olfr522 A T 7: 140,162,471 S160T probably damaging Het
Olfr920 G T 9: 38,755,818 L43F probably damaging Het
Olfr958 A T 9: 39,550,451 I140N probably damaging Het
Orc5 C T 5: 22,546,457 V85I probably benign Het
Pccb T C 9: 100,982,797 D468G probably damaging Het
Pdzd2 A T 15: 12,375,024 V1675E probably benign Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Pltp A T 2: 164,854,400 N97K probably damaging Het
Polr1a T C 6: 71,950,664 probably null Het
Prss42 G A 9: 110,799,273 V162I possibly damaging Het
Rbfox2 A T 15: 77,099,255 Y269N probably damaging Het
S1pr4 A T 10: 81,498,989 I217N probably damaging Het
Slc23a2 T C 2: 132,078,433 K184R probably benign Het
Slc6a19 T C 13: 73,691,695 N156S probably benign Het
Svep1 C T 4: 58,088,280 G1723D probably damaging Het
Tbc1d32 T A 10: 56,192,898 H358L possibly damaging Het
Tigit G T 16: 43,662,271 N33K probably damaging Het
Tmem25 T C 9: 44,796,581 Y139C probably damaging Het
Trmt13 G A 3: 116,582,626 T372M probably damaging Het
Ubr2 A T 17: 46,983,298 M303K probably damaging Het
Usp34 A G 11: 23,467,207 E2952G probably damaging Het
Zan T A 5: 137,391,658 I4851F unknown Het
Zfand4 C T 6: 116,288,054 T160I probably benign Het
Other mutations in Rftn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Rftn2 APN 1 55204285 missense probably damaging 1.00
IGL01691:Rftn2 APN 1 55214286 missense probably damaging 1.00
IGL02412:Rftn2 APN 1 55206338 missense probably benign 0.01
IGL02458:Rftn2 APN 1 55211192 nonsense probably null
1mM(1):Rftn2 UTSW 1 55206595 missense possibly damaging 0.94
R1167:Rftn2 UTSW 1 55204299 missense probably damaging 1.00
R1172:Rftn2 UTSW 1 55211217 missense probably damaging 0.99
R4171:Rftn2 UTSW 1 55214270 missense probably damaging 1.00
R4350:Rftn2 UTSW 1 55194281 missense probably damaging 1.00
R4487:Rftn2 UTSW 1 55202152 missense possibly damaging 0.74
R4833:Rftn2 UTSW 1 55214240 missense possibly damaging 0.56
R4863:Rftn2 UTSW 1 55172039 missense probably benign 0.01
R5719:Rftn2 UTSW 1 55214286 missense probably damaging 1.00
R6801:Rftn2 UTSW 1 55194259 missense possibly damaging 0.91
R6937:Rftn2 UTSW 1 55194349 critical splice acceptor site probably null
R6939:Rftn2 UTSW 1 55194349 critical splice acceptor site probably null
R7344:Rftn2 UTSW 1 55226152 nonsense probably null
R7401:Rftn2 UTSW 1 55194242 critical splice donor site probably null
R7517:Rftn2 UTSW 1 55195549 missense probably damaging 1.00
R8512:Rftn2 UTSW 1 55214165 missense probably damaging 1.00
R9207:Rftn2 UTSW 1 55184990 missense probably damaging 1.00
R9501:Rftn2 UTSW 1 55202196 missense possibly damaging 0.66
X0022:Rftn2 UTSW 1 55214136 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCGATCACACCCTCCCTTGGTATTTA -3'
(R):5'- GTATCCATCAGTTGGGTCAATCACCTTT -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- ctaccctgaacacatttaatctcac -3'
Posted On 2013-05-23