Incidental Mutation 'R7517:Rftn2'
ID582499
Institutional Source Beutler Lab
Gene Symbol Rftn2
Ensembl Gene ENSMUSG00000025978
Gene Nameraftlin family member 2
Synonyms3222401M22Rik, 2700010E02Rik
MMRRC Submission
Accession Numbers

Genbank: NM_028713.1; Ensembl: ENSMUST00000027121, ENSMUST00000114428

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7517 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location55170159-55226782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 55195549 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 338 (D338E)
Ref Sequence ENSEMBL: ENSMUSP00000027121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000132055]
Predicted Effect probably damaging
Transcript: ENSMUST00000027121
AA Change: D338E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: D338E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
Allele List at MGI

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

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A T 14: 31,715,374 V578E possibly damaging Het
Arhgap35 A T 7: 16,562,207 C978S probably benign Het
Asph A T 4: 9,517,697 V475E probably damaging Het
Atf7ip2 T A 16: 10,241,535 probably null Het
Bace1 A T 9: 45,860,261 D491V probably benign Het
Birc2 A G 9: 7,819,423 I496T probably benign Het
Cacna2d4 C T 6: 119,271,921 R448C probably benign Het
Ccdc181 T C 1: 164,280,420 F224S probably damaging Het
Cdan1 C T 2: 120,727,924 R469Q probably damaging Het
Ddx21 G A 10: 62,588,790 P544L probably damaging Het
Epas1 C A 17: 86,831,098 T874N possibly damaging Het
Fam13b A T 18: 34,494,607 D180E probably damaging Het
Fcgbp G A 7: 28,085,369 V285M probably damaging Het
Gcn1l1 T G 5: 115,619,696 L2487V probably benign Het
Gm19410 C T 8: 35,773,618 A216V possibly damaging Het
Gm4871 G T 5: 145,032,620 R30S probably damaging Het
Gtf2ird1 T C 5: 134,362,525 D899G probably benign Het
Hipk3 T C 2: 104,434,714 T674A probably benign Het
Hnrnph3 A G 10: 63,018,895 L39S unknown Het
Ift122 T C 6: 115,890,582 V431A probably benign Het
Il1f8 A G 2: 24,159,878 H167R probably benign Het
Lce3e T A 3: 92,967,835 C33S unknown Het
Lrrc26 T C 2: 25,290,533 I182T probably benign Het
Magi1 T C 6: 93,708,208 R730G probably damaging Het
Meis3 G T 7: 16,177,818 V102F probably damaging Het
Mpp7 G A 18: 7,440,183 Q263* probably null Het
Myo7b A T 18: 32,013,267 I155N probably damaging Het
Nrip1 A T 16: 76,291,184 *1162K probably null Het
Olfr1104 A C 2: 87,022,142 V134G probably benign Het
Olfr1300-ps1 T C 2: 111,692,099 F194L unknown Het
Olfr401 T A 11: 74,121,509 D73E probably damaging Het
Pdik1l T A 4: 134,278,425 E326V possibly damaging Het
Phrf1 T C 7: 141,256,610 M265T unknown Het
Piezo2 A T 18: 63,082,925 N1222K possibly damaging Het
Pkd1 G A 17: 24,580,419 V2871M probably damaging Het
Pon2 T G 6: 5,268,997 N226H possibly damaging Het
Rnf123 A T 9: 108,070,274 Y171* probably null Het
Ror2 A T 13: 53,110,865 N730K possibly damaging Het
Serpinb6c T A 13: 33,895,295 N138I probably damaging Het
Smco1 A T 16: 32,273,967 H152L possibly damaging Het
Tgm3 T G 2: 130,041,764 S447R probably benign Het
Topbp1 A G 9: 103,332,733 K860E possibly damaging Het
Uba7 C A 9: 107,976,698 probably benign Het
Ucp3 A G 7: 100,481,882 N181D probably damaging Het
Unc13b C A 4: 43,215,765 S21R probably benign Het
Usp34 T A 11: 23,446,968 S2395R 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
R0446:Rftn2 UTSW 1 55214195 missense probably damaging 0.99
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
R8512:Rftn2 UTSW 1 55214165 missense probably damaging 1.00
X0022:Rftn2 UTSW 1 55214136 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GTGCCGACAGTTACTTTTGC -3'
(R):5'- GACAAGATTTTCTCCCAGCTTG -3'

Sequencing Primer
(F):5'- TGTTTGAAAACATGGGTACAGC -3'
(R):5'- TTGCCACCACGACCCTTGG -3'
Posted On2019-10-17