Incidental Mutation 'R8898:Tnfrsf17'
ID 678200
Institutional Source Beutler Lab
Gene Symbol Tnfrsf17
Ensembl Gene ENSMUSG00000022496
Gene Name tumor necrosis factor receptor superfamily, member 17
Synonyms Tnfrsf13, Tnfrsf13a, BCMA, BCM
MMRRC Submission 068755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8898 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 11131676-11137938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11131910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 32 (C32R)
Ref Sequence ENSEMBL: ENSMUSP00000023140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023140]
AlphaFold O88472
Predicted Effect probably damaging
Transcript: ENSMUST00000023140
AA Change: C32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023140
Gene: ENSMUSG00000022496
AA Change: C32R

DomainStartEndE-ValueType
Pfam:BCMA-Tall_bind 5 40 4.2e-23 PFAM
transmembrane domain 50 72 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations in this gene are viable and fertile with no apparent defects in immune system development or function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,383,001 (GRCm39) L988* probably null Het
4930546C10Rik A G 18: 69,083,106 (GRCm39) F36S unknown Het
Acan C A 7: 78,750,101 (GRCm39) T1624K possibly damaging Het
Ambn T C 5: 88,613,051 (GRCm39) probably null Het
Ankrd24 T C 10: 81,478,352 (GRCm39) I437T unknown Het
Arl4d C T 11: 101,557,827 (GRCm39) R118W probably damaging Het
Atg2a A G 19: 6,306,721 (GRCm39) probably benign Het
Bcan T C 3: 87,895,695 (GRCm39) T814A probably benign Het
Brca2 T A 5: 150,492,498 (GRCm39) M3171K possibly damaging Het
Cd209a T A 8: 3,798,739 (GRCm39) S23C probably damaging Het
Chek2 A T 5: 111,011,175 (GRCm39) K324N probably benign Het
Col12a1 C T 9: 79,599,577 (GRCm39) V859I probably benign Het
Cyp7b1 C T 3: 18,150,788 (GRCm39) R317H probably benign Het
Dmxl2 A G 9: 54,308,941 (GRCm39) S1937P probably benign Het
Epb41l1 T G 2: 156,335,869 (GRCm39) V11G probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fat3 G A 9: 15,858,822 (GRCm39) P3798L probably benign Het
Foxd1 T A 13: 98,491,596 (GRCm39) C157S probably damaging Het
Gja10 T C 4: 32,601,058 (GRCm39) Q442R probably benign Het
Gm17019 A C 5: 15,081,798 (GRCm39) M47R possibly damaging Het
Gpr179 C A 11: 97,242,329 (GRCm39) E172* probably null Het
Grhl1 G A 12: 24,634,945 (GRCm39) probably null Het
Gtf2ird2 A T 5: 134,226,106 (GRCm39) E184V probably benign Het
Hace1 A G 10: 45,576,766 (GRCm39) I813V probably benign Het
Hk2 A T 6: 82,715,379 (GRCm39) L385Q probably damaging Het
Htt C T 5: 34,976,376 (GRCm39) T726I probably benign Het
Itga8 T C 2: 12,145,206 (GRCm39) S916G probably benign Het
Jag1 A T 2: 136,935,175 (GRCm39) F396I probably damaging Het
Kif16b A G 2: 142,554,899 (GRCm39) M633T possibly damaging Het
Klf5 T A 14: 99,538,922 (GRCm39) F112I probably damaging Het
Lama1 A T 17: 68,128,610 (GRCm39) Q2989L Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Map4k5 T C 12: 69,859,931 (GRCm39) T739A possibly damaging Het
Mbd3l2 A T 9: 18,355,914 (GRCm39) R80* probably null Het
Mctp2 T C 7: 71,752,904 (GRCm39) E783G probably damaging Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
N4bp3 T C 11: 51,535,256 (GRCm39) N311S probably benign Het
Nanos2 A T 7: 18,721,549 (GRCm39) D7V probably damaging Het
Ndufs7 T A 10: 80,089,619 (GRCm39) probably null Het
Nexn T C 3: 151,948,306 (GRCm39) N483S probably benign Het
Nlrp1b T G 11: 71,073,288 (GRCm39) E185A probably damaging Het
Nop2 C A 6: 125,114,118 (GRCm39) Q195K probably benign Het
Or4a15 A G 2: 89,192,957 (GRCm39) V272A possibly damaging Het
Or4n4 G A 14: 50,518,952 (GRCm39) P253S probably damaging Het
Pde12 G A 14: 26,390,577 (GRCm39) S44L probably benign Het
Pde1c A T 6: 56,114,371 (GRCm39) V514E probably damaging Het
Pdzph1 A T 17: 59,281,334 (GRCm39) V316D probably benign Het
Prl3c1 A T 13: 27,387,578 (GRCm39) I208F possibly damaging Het
Raver2 G A 4: 100,964,399 (GRCm39) probably null Het
Rpl13a-ps1 T A 19: 50,018,747 (GRCm39) H143L probably benign Het
Septin14 A T 5: 129,760,642 (GRCm39) I402K possibly damaging Het
Sla2 T A 2: 156,717,885 (GRCm39) Y129F possibly damaging Het
Smarca2 TGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCA 19: 26,608,358 (GRCm39) probably benign Het
Sorl1 A G 9: 41,911,567 (GRCm39) S1448P probably damaging Het
Spast G A 17: 74,695,273 (GRCm39) R604H probably damaging Het
Speg G A 1: 75,365,517 (GRCm39) G633S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Syt11 T C 3: 88,669,335 (GRCm39) M186V probably benign Het
Tex26 C A 5: 149,380,369 (GRCm39) N133K probably benign Het
Trem1 T A 17: 48,544,374 (GRCm39) V133E probably damaging Het
Trpm7 A T 2: 126,664,661 (GRCm39) M906K possibly damaging Het
Ugt2b35 T A 5: 87,159,189 (GRCm39) I461K possibly damaging Het
Vmn2r77 T A 7: 86,444,430 (GRCm39) C28S probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign Het
Other mutations in Tnfrsf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Tnfrsf17 APN 16 11,131,811 (GRCm39) utr 5 prime probably benign
IGL02880:Tnfrsf17 APN 16 11,137,622 (GRCm39) missense probably damaging 1.00
R0514:Tnfrsf17 UTSW 16 11,133,191 (GRCm39) missense probably benign
R0659:Tnfrsf17 UTSW 16 11,137,683 (GRCm39) missense probably damaging 1.00
R0764:Tnfrsf17 UTSW 16 11,133,063 (GRCm39) missense possibly damaging 0.52
R1463:Tnfrsf17 UTSW 16 11,133,066 (GRCm39) missense possibly damaging 0.93
R1716:Tnfrsf17 UTSW 16 11,137,595 (GRCm39) missense probably benign 0.15
R2436:Tnfrsf17 UTSW 16 11,137,676 (GRCm39) missense probably damaging 1.00
R4658:Tnfrsf17 UTSW 16 11,131,833 (GRCm39) missense probably benign 0.08
R6440:Tnfrsf17 UTSW 16 11,137,754 (GRCm39) missense probably benign 0.00
R8802:Tnfrsf17 UTSW 16 11,137,819 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- AGCAGGGTCTTTCTTTCCG -3'
(R):5'- GCATGCATTACCCATTCCTGG -3'

Sequencing Primer
(F):5'- GCCTGACTTCCTGTCCACAG -3'
(R):5'- AATAAGCCTCAATTAAGAGCTGAAG -3'
Posted On 2021-08-02