Incidental Mutation 'R6014:Themis2'
ID 479901
Institutional Source Beutler Lab
Gene Symbol Themis2
Ensembl Gene ENSMUSG00000037731
Gene Name thymocyte selection associated family member 2
Synonyms ICB-1, BC013712
MMRRC Submission 044190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6014 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132509148-132523675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132513291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 312 (Y312H)
Ref Sequence ENSEMBL: ENSMUSP00000036945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045154]
AlphaFold Q91YX0
Predicted Effect probably benign
Transcript: ENSMUST00000045154
AA Change: Y312H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
AA Change: Y312H

DomainStartEndE-ValueType
Pfam:CABIT 18 242 1.1e-23 PFAM
Pfam:CABIT 267 524 5.3e-50 PFAM
low complexity region 648 659 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (67/67)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B cell development, activation, and antibody responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,244,881 (GRCm39) M157K probably benign Het
A2ml1 C T 6: 128,548,948 (GRCm39) C278Y probably damaging Het
Abcc2 A T 19: 43,815,174 (GRCm39) Q1187L probably benign Het
Adcy9 A T 16: 4,236,683 (GRCm39) Y6N probably damaging Het
Adh1 T C 3: 137,992,559 (GRCm39) I225T probably benign Het
Akap11 A T 14: 78,749,939 (GRCm39) I816K probably benign Het
Ap1b1 T A 11: 4,969,364 (GRCm39) M240K possibly damaging Het
Apex1 A T 14: 51,162,982 (GRCm39) T17S probably benign Het
Arhgap21 C T 2: 20,886,616 (GRCm39) G26D probably damaging Het
Bahcc1 A G 11: 120,180,615 (GRCm39) Y2613C probably benign Het
Baz1b C T 5: 135,246,248 (GRCm39) R566W probably damaging Het
Casp8ap2 A T 4: 32,641,400 (GRCm39) Y818F probably damaging Het
Col3a1 T A 1: 45,360,739 (GRCm39) C56* probably null Het
Coro2a G A 4: 46,542,261 (GRCm39) P371S probably damaging Het
Cyp2a22 T A 7: 26,638,605 (GRCm39) probably null Het
Dpysl3 T A 18: 43,494,132 (GRCm39) I183F probably damaging Het
Drc1 A T 5: 30,502,993 (GRCm39) N172I probably damaging Het
Dst T C 1: 34,303,915 (GRCm39) Y1378H probably damaging Het
Dync2i2 C T 2: 29,921,763 (GRCm39) A533T probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l3 A T 17: 69,590,955 (GRCm39) T91S probably damaging Het
Exoc4 T C 6: 33,452,932 (GRCm39) V474A probably benign Het
Fam229b G A 10: 38,994,989 (GRCm39) T56I probably damaging Het
Gfm2 A G 13: 97,288,169 (GRCm39) probably null Het
Git2 C T 5: 114,871,938 (GRCm39) E152K probably benign Het
Golt1b T A 6: 142,341,943 (GRCm39) I109N probably damaging Het
Grid2ip T A 5: 143,373,578 (GRCm39) M783K possibly damaging Het
Inpp5a A G 7: 139,154,898 (GRCm39) Y339C probably damaging Het
Isoc2a T C 7: 4,894,625 (GRCm39) S103P probably damaging Het
Itih4 C A 14: 30,614,586 (GRCm39) Q483K probably benign Het
Kansl2 A G 15: 98,418,197 (GRCm39) probably null Het
Kdm5d G A Y: 921,528 (GRCm39) A509T probably benign Het
Krt13 A T 11: 100,008,437 (GRCm39) D433E unknown Het
Lat2 C T 5: 134,632,308 (GRCm39) V142M probably damaging Het
Lemd1 A C 1: 132,184,463 (GRCm39) *102S probably null Het
Lrfn2 T C 17: 49,376,934 (GRCm39) L5P possibly damaging Het
Lrrc4c T G 2: 97,459,557 (GRCm39) probably null Het
Lypla1 T A 1: 4,878,594 (GRCm39) probably null Het
Magi2 G A 5: 20,816,091 (GRCm39) G744R probably damaging Het
Myh14 T A 7: 44,274,502 (GRCm39) E948V probably null Het
Myo5a C A 9: 75,074,489 (GRCm39) Y799* probably null Het
Nacc1 A C 8: 85,401,700 (GRCm39) M371R possibly damaging Het
Nlrp5 T G 7: 23,109,372 (GRCm39) M106R probably benign Het
Oas1h C T 5: 121,005,229 (GRCm39) H226Y possibly damaging Het
Obscn A C 11: 58,929,690 (GRCm39) I5175R probably damaging Het
Pcdh7 T A 5: 57,878,497 (GRCm39) I684N probably damaging Het
Pcdhb3 T A 18: 37,435,706 (GRCm39) N557K probably damaging Het
Pde3b T C 7: 114,015,675 (GRCm39) L297S probably damaging Het
Pigv G T 4: 133,392,740 (GRCm39) H143Q probably benign Het
Ptk2 T G 15: 73,176,293 (GRCm39) Y251S possibly damaging Het
Ralgds A G 2: 28,433,673 (GRCm39) N219S probably damaging Het
Sardh C A 2: 27,087,540 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,356 (GRCm39) K212N possibly damaging Het
Sh3bp2 A G 5: 34,716,971 (GRCm39) N461D probably benign Het
Shisa2 A T 14: 59,867,357 (GRCm39) Q203L probably damaging Het
Shmt1 C A 11: 60,688,383 (GRCm39) G255V probably damaging Het
Socs1 T A 16: 10,602,357 (GRCm39) I127F possibly damaging Het
Srcap A T 7: 127,137,922 (GRCm39) T1091S probably benign Het
Syt14 A G 1: 192,613,003 (GRCm39) I599T probably damaging Het
Tep1 A T 14: 51,084,457 (GRCm39) N907K probably benign Het
Tubgcp5 T G 7: 55,473,357 (GRCm39) S812A probably benign Het
Ush2a A T 1: 188,582,237 (GRCm39) I3767F probably damaging Het
Usp40 T A 1: 87,907,738 (GRCm39) E626V probably damaging Het
Utrn T C 10: 12,566,620 (GRCm39) R1181G probably benign Het
Vmn2r117 T A 17: 23,698,535 (GRCm39) I13F probably damaging Het
Wdr48 G T 9: 119,753,775 (GRCm39) V646F probably damaging Het
Wdr64 T C 1: 175,633,556 (GRCm39) F936L possibly damaging Het
Other mutations in Themis2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02009:Themis2 APN 4 132,512,753 (GRCm39) missense probably damaging 1.00
IGL02192:Themis2 APN 4 132,510,658 (GRCm39) critical splice donor site probably null
IGL02743:Themis2 APN 4 132,510,795 (GRCm39) missense probably benign 0.37
IGL02934:Themis2 APN 4 132,516,862 (GRCm39) missense probably damaging 0.99
R0111:Themis2 UTSW 4 132,517,236 (GRCm39) missense probably benign 0.17
R0598:Themis2 UTSW 4 132,516,994 (GRCm39) missense possibly damaging 0.93
R1445:Themis2 UTSW 4 132,510,212 (GRCm39) missense possibly damaging 0.53
R1484:Themis2 UTSW 4 132,519,796 (GRCm39) missense possibly damaging 0.94
R1719:Themis2 UTSW 4 132,516,960 (GRCm39) missense possibly damaging 0.95
R2076:Themis2 UTSW 4 132,513,113 (GRCm39) missense probably damaging 1.00
R3522:Themis2 UTSW 4 132,512,906 (GRCm39) missense probably damaging 1.00
R4620:Themis2 UTSW 4 132,513,333 (GRCm39) missense probably damaging 1.00
R4653:Themis2 UTSW 4 132,510,287 (GRCm39) missense probably benign 0.40
R4891:Themis2 UTSW 4 132,510,668 (GRCm39) missense probably benign 0.14
R5331:Themis2 UTSW 4 132,510,244 (GRCm39) missense possibly damaging 0.85
R5660:Themis2 UTSW 4 132,523,567 (GRCm39) splice site probably null
R6747:Themis2 UTSW 4 132,523,573 (GRCm39) missense possibly damaging 0.80
R6863:Themis2 UTSW 4 132,516,907 (GRCm39) missense probably damaging 1.00
R7380:Themis2 UTSW 4 132,513,528 (GRCm39) missense possibly damaging 0.93
R7890:Themis2 UTSW 4 132,516,954 (GRCm39) missense probably damaging 1.00
R7998:Themis2 UTSW 4 132,519,875 (GRCm39) missense probably damaging 0.99
R8847:Themis2 UTSW 4 132,513,509 (GRCm39) missense probably damaging 1.00
R9503:Themis2 UTSW 4 132,510,657 (GRCm39) critical splice donor site probably null
R9642:Themis2 UTSW 4 132,513,047 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CGCTGACATACCAGGACATC -3'
(R):5'- TTCAAACCCTTGCGGCTGAG -3'

Sequencing Primer
(F):5'- TGGCCTTTGGTCCCACAGAC -3'
(R):5'- CTTGCGGCTGAGCGAGG -3'
Posted On 2017-06-26