Incidental Mutation 'R0115:Ythdc2'
ID 50161
Institutional Source Beutler Lab
Gene Symbol Ythdc2
Ensembl Gene ENSMUSG00000034653
Gene Name YTH domain containing 2
Synonyms 3010002F02Rik
MMRRC Submission 038401-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0115 (G1)
Quality Score 125
Status Validated (trace)
Chromosome 18
Chromosomal Location 44961521-45022787 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 44974490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037763]
AlphaFold B2RR83
Predicted Effect probably benign
Transcript: ENSMUST00000037763
SMART Domains Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653

DomainStartEndE-ValueType
low complexity region 2 50 N/A INTRINSIC
Pfam:R3H 59 119 1.7e-15 PFAM
DEXDc 206 393 4.95e-26 SMART
low complexity region 413 428 N/A INTRINSIC
ANK 521 550 2.79e1 SMART
ANK 554 583 1.5e2 SMART
HELICc 648 759 5.31e-17 SMART
HA2 823 916 2.58e-22 SMART
Pfam:OB_NTP_bind 953 1082 1.3e-18 PFAM
low complexity region 1263 1299 N/A INTRINSIC
Pfam:YTH 1303 1434 7.2e-50 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 86.0%
Validation Efficiency 98% (98/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,108,452 (GRCm39) noncoding transcript Het
Alas1 A T 9: 106,115,451 (GRCm39) probably null Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
Arhgap20 T A 9: 51,750,272 (GRCm39) I344N probably damaging Het
Arhgap30 A C 1: 171,235,516 (GRCm39) E630A possibly damaging Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bdp1 A G 13: 100,177,962 (GRCm39) I1969T probably benign Het
Bysl C T 17: 47,921,867 (GRCm39) R77Q probably benign Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccdc146 T C 5: 21,527,754 (GRCm39) I187M possibly damaging Het
Ccdc192 G A 18: 57,727,214 (GRCm39) probably benign Het
Cdhr18 A G 14: 13,899,571 (GRCm38) V117A probably damaging Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Ces5a A T 8: 94,228,811 (GRCm39) M473K probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwc22 G A 2: 77,738,455 (GRCm39) A497V probably damaging Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Cyp2c50 T A 19: 40,080,837 (GRCm39) probably benign Het
Dlg1 C A 16: 31,624,508 (GRCm39) Y399* probably null Het
Drosha A T 15: 12,846,216 (GRCm39) E92D probably benign Het
Fanca C T 8: 123,995,278 (GRCm39) G1408D probably benign Het
Frem1 T A 4: 82,854,406 (GRCm39) D1621V possibly damaging Het
Frem2 G A 3: 53,563,629 (GRCm39) R293C probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Glipr1 A G 10: 111,829,446 (GRCm39) I105T probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Gon4l T A 3: 88,802,989 (GRCm39) V1200D probably damaging Het
Gpc1 G A 1: 92,785,221 (GRCm39) D387N probably damaging Het
Gsdmc A G 15: 63,675,486 (GRCm39) Y110H probably damaging Het
Gucy1b1 T A 3: 81,941,698 (GRCm39) H586L probably benign Het
Gucy2e A G 11: 69,127,458 (GRCm39) L5P unknown Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,684,398 (GRCm39) I391F possibly damaging Het
Hsf4 A T 8: 105,999,336 (GRCm39) probably null Het
I830077J02Rik G A 3: 105,833,886 (GRCm39) T90M probably damaging Het
Ino80 A T 2: 119,261,497 (GRCm39) H722Q probably damaging Het
Kcnma1 C A 14: 23,364,243 (GRCm39) R980L probably damaging Het
Kif1a A G 1: 92,974,500 (GRCm39) probably benign Het
Klhdc7b A G 15: 89,272,724 (GRCm39) H1202R probably benign Het
Lig3 A G 11: 82,684,761 (GRCm39) D559G probably damaging Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Mab21l4 A T 1: 93,087,447 (GRCm39) S135R possibly damaging Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Marchf6 A T 15: 31,475,958 (GRCm39) F633I probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Megf10 G T 18: 57,392,874 (GRCm39) V424L possibly damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mmut C T 17: 41,267,118 (GRCm39) T564M probably damaging Het
Myh8 A G 11: 67,197,090 (GRCm39) probably benign Het
Mypn T C 10: 63,028,159 (GRCm39) probably benign Het
Nf1 G A 11: 79,359,702 (GRCm39) probably null Het
Notch3 T A 17: 32,352,436 (GRCm39) T1866S possibly damaging Het
Or1e30 A G 11: 73,678,141 (GRCm39) I126V possibly damaging Het
Or1o11 C T 17: 37,756,670 (GRCm39) A86V probably benign Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Pkhd1 A T 1: 20,420,714 (GRCm39) I2464N probably damaging Het
Pkn1 A G 8: 84,397,658 (GRCm39) S817P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Psmd1 C T 1: 86,010,993 (GRCm39) T356I possibly damaging Het
Ptk6 G A 2: 180,844,320 (GRCm39) probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rbm42 G A 7: 30,347,200 (GRCm39) T106I probably damaging Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rorc T C 3: 94,284,916 (GRCm39) probably benign Het
Rpl22l1 T C 3: 28,860,685 (GRCm39) F15L probably damaging Het
Slc6a20a C A 9: 123,507,823 (GRCm39) A17S possibly damaging Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Sp100 A G 1: 85,577,852 (GRCm39) probably benign Het
Ssc5d G A 7: 4,930,880 (GRCm39) probably benign Het
Taf11 A G 17: 28,126,635 (GRCm39) L4P probably benign Het
Tm2d3 A G 7: 65,345,082 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,201 (GRCm39) probably null Het
Trim34a T A 7: 103,897,109 (GRCm39) C58S probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm6 T C 19: 18,807,316 (GRCm39) V1020A probably damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r59 T C 7: 5,457,115 (GRCm39) N215S probably benign Het
Vmn2r74 T C 7: 85,606,564 (GRCm39) M261V probably benign Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Wdr95 A T 5: 149,487,855 (GRCm39) D163V probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Other mutations in Ythdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ythdc2 APN 18 44,993,040 (GRCm39) missense probably benign
IGL00341:Ythdc2 APN 18 44,983,464 (GRCm39) missense probably benign 0.00
IGL00502:Ythdc2 APN 18 44,980,879 (GRCm39) missense probably damaging 0.99
IGL00585:Ythdc2 APN 18 44,997,428 (GRCm39) missense probably damaging 1.00
IGL01081:Ythdc2 APN 18 44,983,726 (GRCm39) missense probably benign 0.19
IGL01569:Ythdc2 APN 18 45,020,718 (GRCm39) missense probably benign
IGL01577:Ythdc2 APN 18 44,991,349 (GRCm39) missense probably benign 0.00
IGL01617:Ythdc2 APN 18 44,974,482 (GRCm39) missense possibly damaging 0.53
IGL01674:Ythdc2 APN 18 44,993,471 (GRCm39) missense probably benign 0.04
IGL01736:Ythdc2 APN 18 44,983,735 (GRCm39) missense probably damaging 0.97
IGL02095:Ythdc2 APN 18 45,006,207 (GRCm39) splice site probably benign
IGL02245:Ythdc2 APN 18 44,995,751 (GRCm39) missense possibly damaging 0.74
IGL02524:Ythdc2 APN 18 44,980,921 (GRCm39) missense probably damaging 0.98
IGL02542:Ythdc2 APN 18 44,973,308 (GRCm39) missense probably damaging 1.00
IGL02622:Ythdc2 APN 18 44,993,001 (GRCm39) missense probably damaging 0.99
IGL02795:Ythdc2 APN 18 44,970,505 (GRCm39) missense possibly damaging 0.95
IGL02935:Ythdc2 APN 18 44,988,112 (GRCm39) missense probably damaging 1.00
PIT4618001:Ythdc2 UTSW 18 44,967,665 (GRCm39) missense probably benign 0.19
R0329:Ythdc2 UTSW 18 44,998,127 (GRCm39) splice site probably benign
R0472:Ythdc2 UTSW 18 44,997,424 (GRCm39) missense probably benign 0.02
R0530:Ythdc2 UTSW 18 44,983,465 (GRCm39) missense probably damaging 0.99
R0547:Ythdc2 UTSW 18 44,973,331 (GRCm39) missense possibly damaging 0.92
R0563:Ythdc2 UTSW 18 44,997,915 (GRCm39) splice site probably benign
R0609:Ythdc2 UTSW 18 44,997,424 (GRCm39) missense probably benign 0.02
R1291:Ythdc2 UTSW 18 44,988,276 (GRCm39) missense probably benign 0.33
R1469:Ythdc2 UTSW 18 44,997,529 (GRCm39) missense probably benign 0.00
R1469:Ythdc2 UTSW 18 44,997,529 (GRCm39) missense probably benign 0.00
R1724:Ythdc2 UTSW 18 44,961,757 (GRCm39) missense probably benign 0.04
R1860:Ythdc2 UTSW 18 45,006,023 (GRCm39) missense possibly damaging 0.86
R2040:Ythdc2 UTSW 18 44,988,241 (GRCm39) nonsense probably null
R2308:Ythdc2 UTSW 18 44,980,815 (GRCm39) missense possibly damaging 0.95
R3711:Ythdc2 UTSW 18 44,966,240 (GRCm39) missense probably damaging 0.98
R4005:Ythdc2 UTSW 18 44,966,195 (GRCm39) missense probably benign 0.00
R4580:Ythdc2 UTSW 18 44,991,265 (GRCm39) missense possibly damaging 0.81
R4631:Ythdc2 UTSW 18 45,020,698 (GRCm39) missense probably benign 0.03
R4815:Ythdc2 UTSW 18 45,018,307 (GRCm39) missense probably benign 0.40
R4924:Ythdc2 UTSW 18 44,980,871 (GRCm39) missense probably damaging 1.00
R4982:Ythdc2 UTSW 18 45,004,532 (GRCm39) missense probably benign 0.01
R5011:Ythdc2 UTSW 18 44,987,809 (GRCm39) missense probably benign 0.38
R5141:Ythdc2 UTSW 18 44,998,114 (GRCm39) missense probably benign 0.01
R5147:Ythdc2 UTSW 18 44,977,359 (GRCm39) missense probably damaging 0.98
R5280:Ythdc2 UTSW 18 44,993,688 (GRCm39) missense probably damaging 1.00
R5388:Ythdc2 UTSW 18 44,990,092 (GRCm39) missense possibly damaging 0.65
R5928:Ythdc2 UTSW 18 44,966,272 (GRCm39) missense probably benign
R5931:Ythdc2 UTSW 18 45,006,023 (GRCm39) missense possibly damaging 0.86
R5995:Ythdc2 UTSW 18 45,019,320 (GRCm39) missense probably damaging 1.00
R6027:Ythdc2 UTSW 18 44,993,503 (GRCm39) missense probably benign 0.02
R6056:Ythdc2 UTSW 18 44,973,277 (GRCm39) missense probably damaging 0.98
R6318:Ythdc2 UTSW 18 44,993,444 (GRCm39) missense probably benign 0.04
R6399:Ythdc2 UTSW 18 45,019,469 (GRCm39) missense possibly damaging 0.93
R6586:Ythdc2 UTSW 18 44,978,855 (GRCm39) missense probably benign 0.00
R6684:Ythdc2 UTSW 18 45,006,136 (GRCm39) missense possibly damaging 0.47
R7040:Ythdc2 UTSW 18 44,967,529 (GRCm39) missense probably benign 0.02
R7071:Ythdc2 UTSW 18 44,978,855 (GRCm39) missense probably benign 0.00
R7105:Ythdc2 UTSW 18 44,967,630 (GRCm39) missense probably damaging 1.00
R7148:Ythdc2 UTSW 18 44,966,189 (GRCm39) missense probably benign 0.42
R7290:Ythdc2 UTSW 18 44,970,558 (GRCm39) missense possibly damaging 0.50
R7806:Ythdc2 UTSW 18 44,983,491 (GRCm39) missense probably benign 0.05
R7806:Ythdc2 UTSW 18 44,977,353 (GRCm39) missense possibly damaging 0.91
R8114:Ythdc2 UTSW 18 45,010,807 (GRCm39) missense probably benign 0.15
R8820:Ythdc2 UTSW 18 44,967,531 (GRCm39) nonsense probably null
R8840:Ythdc2 UTSW 18 44,993,691 (GRCm39) missense probably damaging 1.00
R8998:Ythdc2 UTSW 18 44,997,371 (GRCm39) missense probably benign 0.31
R9065:Ythdc2 UTSW 18 44,977,418 (GRCm39) missense probably benign 0.00
R9196:Ythdc2 UTSW 18 44,988,464 (GRCm39) missense probably damaging 0.96
R9251:Ythdc2 UTSW 18 44,974,442 (GRCm39) missense probably benign 0.00
R9331:Ythdc2 UTSW 18 44,970,499 (GRCm39) missense possibly damaging 0.87
R9469:Ythdc2 UTSW 18 45,019,383 (GRCm39) missense probably damaging 1.00
R9634:Ythdc2 UTSW 18 45,006,037 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTACATACTGCAAGCTGGTCTGTG -3'
(R):5'- TGGATTTTGACAGCCTTGAGCCTG -3'

Sequencing Primer
(F):5'- CCAGCAGTGTTTCCTGTTAAAG -3'
(R):5'- GGATTTGCTACACAGCATCAG -3'
Posted On 2013-06-20