Incidental Mutation 'R6941:Rell2'
ID 540575
Institutional Source Beutler Lab
Gene Symbol Rell2
Ensembl Gene ENSMUSG00000044024
Gene Name RELT-like 2
Synonyms 4631403P03Rik, ependolin
MMRRC Submission 045055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6941 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 38088132-38092232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38091341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 169 (A169T)
Ref Sequence ENSEMBL: ENSMUSP00000135176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000168056] [ENSMUST00000169360] [ENSMUST00000169498] [ENSMUST00000176104] [ENSMUST00000176902] [ENSMUST00000177058]
AlphaFold Q8BRJ3
Predicted Effect probably benign
Transcript: ENSMUST00000043437
SMART Domains Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 21 100 1.6e-19 PFAM
coiled coil region 188 209 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
SH3 469 526 1.34e-8 SMART
SH3 547 606 1.94e-14 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 657 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043498
SMART Domains Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 11 315 1.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070709
AA Change: A260T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
AA Change: A260T

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.2e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091932
AA Change: A260T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
AA Change: A260T

DomainStartEndE-ValueType
Pfam:RELT 16 64 8.3e-23 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163128
SMART Domains Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 5.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163591
AA Change: A169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
AA Change: A169T

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168056
SMART Domains Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.9e-23 PFAM
low complexity region 104 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169360
SMART Domains Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 4.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169498
AA Change: A169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
AA Change: A169T

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176104
AA Change: A260T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
AA Change: A260T

DomainStartEndE-ValueType
Pfam:RELT 16 60 3.3e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176902
AA Change: A169T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
AA Change: A169T

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177058
AA Change: A260T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
AA Change: A260T

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.2e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Acta2 A T 19: 34,229,922 (GRCm39) V11E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Ddx27 A G 2: 166,857,297 (GRCm39) D15G possibly damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Epm2a A G 10: 11,266,829 (GRCm39) probably null Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Gdf15 A G 8: 71,082,794 (GRCm39) L104P possibly damaging Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Or5b99 T A 19: 12,976,861 (GRCm39) N170K possibly damaging Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G probably benign Het
Other mutations in Rell2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03075:Rell2 APN 18 38,090,734 (GRCm39) missense probably damaging 0.99
R1636:Rell2 UTSW 18 38,091,132 (GRCm39) missense probably damaging 1.00
R4124:Rell2 UTSW 18 38,091,267 (GRCm39) missense probably benign 0.20
R4127:Rell2 UTSW 18 38,091,267 (GRCm39) missense probably benign 0.20
R4852:Rell2 UTSW 18 38,089,621 (GRCm39) critical splice donor site probably null
R4956:Rell2 UTSW 18 38,090,758 (GRCm39) missense probably damaging 1.00
R6803:Rell2 UTSW 18 38,089,994 (GRCm39) missense probably damaging 1.00
R8282:Rell2 UTSW 18 38,090,665 (GRCm39) missense probably benign 0.01
Z1177:Rell2 UTSW 18 38,090,710 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCGTGATGGTTCCCCTACG -3'
(R):5'- TGGATCATACCCACGTTGCC -3'

Sequencing Primer
(F):5'- ATGGTTCCCCTACGGACAGAAG -3'
(R):5'- TACCCACGTTGCCCAGAGTAG -3'
Posted On 2018-11-06