Incidental Mutation 'R7323:Tnfrsf11a'
ID 568257
Institutional Source Beutler Lab
Gene Symbol Tnfrsf11a
Ensembl Gene ENSMUSG00000026321
Gene Name tumor necrosis factor receptor superfamily, member 11a, NFKB activator
Synonyms TRANCE-R, Rank
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R7323 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 105708443-105775709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105772456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 581 (D581G)
Ref Sequence ENSEMBL: ENSMUSP00000027559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027559]
AlphaFold O35305
PDB Structure Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANK [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027559
AA Change: D581G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: D581G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
TNFR 35 69 1.48e-7 SMART
TNFR 72 113 2.59e-3 SMART
TNFR 115 152 4.28e-4 SMART
TNFR 155 195 5.27e-4 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 300 313 N/A INTRINSIC
low complexity region 495 511 N/A INTRINSIC
low complexity region 543 558 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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 receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik C A 5: 100,126,945 (GRCm39) A9E unknown Het
6030452D12Rik A T 8: 107,227,411 (GRCm39) probably null Het
Abcb11 C A 2: 69,117,979 (GRCm39) Q466H probably damaging Het
Adam20 A G 8: 41,248,421 (GRCm39) D177G probably benign Het
Ampd1 A T 3: 102,992,696 (GRCm39) Q150L probably benign Het
Angpt2 A C 8: 18,755,840 (GRCm39) M209R probably benign Het
Aoc2 G A 11: 101,219,371 (GRCm39) R598Q probably damaging Het
Arap1 A G 7: 101,049,418 (GRCm39) D960G probably damaging Het
Bhlhe40 G C 6: 108,642,242 (GRCm39) L395F probably benign Het
Cacna1i T C 15: 80,275,854 (GRCm39) C1882R possibly damaging Het
Ccr6 A G 17: 8,475,611 (GRCm39) N272S possibly damaging Het
Ces1f A T 8: 93,998,472 (GRCm39) W175R probably damaging Het
Ces3a A C 8: 105,782,239 (GRCm39) H364P possibly damaging Het
Cfap54 T C 10: 92,637,000 (GRCm39) M3130V probably benign Het
Clca3b G A 3: 144,531,681 (GRCm39) P708S possibly damaging Het
Cps1 A T 1: 67,197,028 (GRCm39) T360S probably benign Het
Cramp1 A T 17: 25,201,379 (GRCm39) M701K possibly damaging Het
Dnah1 A G 14: 31,020,664 (GRCm39) I1235T probably damaging Het
Efcab3 T C 11: 104,920,837 (GRCm39) L4676P probably benign Het
Ergic1 A G 17: 26,860,644 (GRCm39) E244G probably damaging Het
Fignl2 C A 15: 100,951,382 (GRCm39) R300L unknown Het
Fry T C 5: 150,419,814 (GRCm39) M628T Het
Fscn3 A G 6: 28,431,544 (GRCm39) T292A possibly damaging Het
Fsip2 A T 2: 82,819,860 (GRCm39) I5198L probably benign Het
Gm4181 T A 14: 51,869,990 (GRCm39) R104W probably damaging Het
Gnl1 G A 17: 36,294,305 (GRCm39) R308H probably benign Het
Gtf2h4 G T 17: 35,980,857 (GRCm39) L271I probably damaging Het
Helq GTTT GTT 5: 100,931,051 (GRCm39) probably null Het
Hhatl A T 9: 121,618,652 (GRCm39) W117R probably benign Het
Hlx A G 1: 184,462,993 (GRCm39) F220L probably benign Het
Il31ra T C 13: 112,688,497 (GRCm39) I27V probably damaging Het
Itga8 T G 2: 12,266,940 (GRCm39) D165A probably damaging Het
Krt33a A C 11: 99,902,801 (GRCm39) V341G probably benign Het
Lrrc3c A G 11: 98,490,266 (GRCm39) M208V possibly damaging Het
Mapk8ip3 A T 17: 25,120,135 (GRCm39) S947T probably benign Het
Muc5b A G 7: 141,412,444 (GRCm39) I1797V unknown Het
Myh2 A T 11: 67,088,191 (GRCm39) T1936S probably benign Het
Nr1h2 T C 7: 44,199,746 (GRCm39) Y391C possibly damaging Het
Or1l8 T A 2: 36,817,986 (GRCm39) I47F probably damaging Het
Or4c114 A T 2: 88,904,811 (GRCm39) I208K probably damaging Het
Or4e2 A G 14: 52,688,670 (GRCm39) I267V probably benign Het
Or5d40 A G 2: 88,015,952 (GRCm39) T244A possibly damaging Het
Phf3 A G 1: 30,852,211 (GRCm39) M1064T probably benign Het
Pkd1 A G 17: 24,794,025 (GRCm39) E1904G probably benign Het
Polrmt A G 10: 79,576,483 (GRCm39) V491A probably benign Het
Ppm1j C A 3: 104,691,429 (GRCm39) R306S probably damaging Het
Prkd2 T C 7: 16,581,547 (GRCm39) F134S probably benign Het
Prpf8 C A 11: 75,382,610 (GRCm39) Q439K probably benign Het
Prss50 A T 9: 110,692,800 (GRCm39) I307F possibly damaging Het
Rgs20 A G 1: 4,982,535 (GRCm39) probably null Het
Rnf144b A G 13: 47,393,258 (GRCm39) E199G probably damaging Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc22a26 A T 19: 7,768,259 (GRCm39) V233E probably damaging Het
Slc27a2 T G 2: 126,395,124 (GRCm39) L17R probably benign Het
Slc6a17 A G 3: 107,398,794 (GRCm39) V269A probably benign Het
Srp54c T C 12: 55,304,237 (GRCm39) V395A probably benign Het
Sspo A T 6: 48,438,581 (GRCm39) S1550C possibly damaging Het
Tet1 A G 10: 62,715,818 (GRCm39) probably benign Het
Themis A T 10: 28,609,497 (GRCm39) H88L probably benign Het
Tmem63b G A 17: 45,971,773 (GRCm39) T814M possibly damaging Het
Tnc G A 4: 63,889,469 (GRCm39) T1679I probably damaging Het
Trim30d A C 7: 104,132,555 (GRCm39) V244G probably benign Het
Trpv1 T C 11: 73,151,163 (GRCm39) S784P possibly damaging Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Ubap2l A C 3: 89,922,713 (GRCm39) V775G unknown Het
Vmn2r69 A C 7: 85,060,972 (GRCm39) I204R possibly damaging Het
Vmn2r72 T A 7: 85,399,771 (GRCm39) D426V probably benign Het
Vmn2r93 G A 17: 18,533,497 (GRCm39) W467* probably null Het
Wbp2nl T C 15: 82,198,542 (GRCm39) *360Q probably null Het
Xylt1 G A 7: 117,191,274 (GRCm39) probably null Het
Zc3h6 T G 2: 128,835,331 (GRCm39) N123K unknown Het
Zfp853 T C 5: 143,275,110 (GRCm39) Q185R unknown Het
Other mutations in Tnfrsf11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Tnfrsf11a APN 1 105,737,147 (GRCm39) missense possibly damaging 0.80
IGL02429:Tnfrsf11a APN 1 105,755,443 (GRCm39) missense probably benign 0.14
IGL03222:Tnfrsf11a APN 1 105,749,215 (GRCm39) missense probably damaging 1.00
IGL03276:Tnfrsf11a APN 1 105,749,215 (GRCm39) missense probably damaging 1.00
PIT4354001:Tnfrsf11a UTSW 1 105,749,242 (GRCm39) missense probably damaging 1.00
R0321:Tnfrsf11a UTSW 1 105,772,583 (GRCm39) nonsense probably null
R0514:Tnfrsf11a UTSW 1 105,754,717 (GRCm39) missense probably damaging 1.00
R0655:Tnfrsf11a UTSW 1 105,735,880 (GRCm39) missense unknown
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1868:Tnfrsf11a UTSW 1 105,772,431 (GRCm39) missense probably damaging 1.00
R2900:Tnfrsf11a UTSW 1 105,754,786 (GRCm39) missense probably benign 0.03
R3418:Tnfrsf11a UTSW 1 105,737,130 (GRCm39) missense possibly damaging 0.84
R3816:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3817:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3818:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3819:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3879:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R4037:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4039:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4238:Tnfrsf11a UTSW 1 105,754,962 (GRCm39) missense probably damaging 1.00
R5708:Tnfrsf11a UTSW 1 105,741,545 (GRCm39) splice site probably null
R6102:Tnfrsf11a UTSW 1 105,747,671 (GRCm39) missense possibly damaging 0.62
R6910:Tnfrsf11a UTSW 1 105,772,272 (GRCm39) missense probably damaging 1.00
R7169:Tnfrsf11a UTSW 1 105,772,421 (GRCm39) missense possibly damaging 0.95
R7178:Tnfrsf11a UTSW 1 105,755,264 (GRCm39) missense probably benign 0.04
R7293:Tnfrsf11a UTSW 1 105,735,866 (GRCm39) critical splice acceptor site probably null
R7334:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R7607:Tnfrsf11a UTSW 1 105,772,458 (GRCm39) missense probably benign 0.02
R7614:Tnfrsf11a UTSW 1 105,755,094 (GRCm39) missense probably damaging 1.00
R7651:Tnfrsf11a UTSW 1 105,737,171 (GRCm39) missense probably damaging 1.00
R7908:Tnfrsf11a UTSW 1 105,737,099 (GRCm39) missense probably damaging 1.00
R8078:Tnfrsf11a UTSW 1 105,745,409 (GRCm39) missense probably damaging 1.00
R8364:Tnfrsf11a UTSW 1 105,745,412 (GRCm39) missense probably damaging 0.99
R8859:Tnfrsf11a UTSW 1 105,772,244 (GRCm39) critical splice acceptor site probably null
R8979:Tnfrsf11a UTSW 1 105,754,825 (GRCm39) missense possibly damaging 0.78
R9008:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9016:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9017:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9052:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
Z1177:Tnfrsf11a UTSW 1 105,754,724 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TAACTCCACGTTCATCTCTAGCGG -3'
(R):5'- ACAGTGGCTAGCTACACCATG -3'

Sequencing Primer
(F):5'- TTCATCTCTAGCGGGCAGG -3'
(R):5'- GCTACACCATGTTTTTGGAAAGGC -3'
Posted On 2019-06-26