Incidental Mutation 'R8038:Rtn4rl1'
ID618345
Institutional Source Beutler Lab
Gene Symbol Rtn4rl1
Ensembl Gene ENSMUSG00000045287
Gene Namereticulon 4 receptor-like 1
SynonymsNgrl2, Ngrh2, Ngr3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.309) question?
Stock #R8038 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location75193783-75267769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 75265881 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 380 (E380Q)
Ref Sequence ENSEMBL: ENSMUSP00000099572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102514]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102514
AA Change: E380Q

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: E380Q

DomainStartEndE-ValueType
LRRNT 24 58 2.74e-2 SMART
LRR 76 98 5.57e1 SMART
LRR 99 123 1.73e0 SMART
LRR 124 147 2.14e0 SMART
LRR_TYP 148 171 1.1e-2 SMART
LRR_TYP 172 195 6.88e-4 SMART
LRR 196 219 2.49e-1 SMART
LRR 220 243 5.72e0 SMART
LRRCT 255 305 8.21e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display fatty change in the liver, bile duct lesions in females and hepatocytes with enlarged vacuoles and nuclei in the male. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,215,904 M143K probably damaging Het
Accs A T 2: 93,842,917 probably null Het
Alkbh5 T C 11: 60,538,985 V188A probably damaging Het
Cacna1h C T 17: 25,375,891 V2098I probably damaging Het
Chuk A G 19: 44,078,977 Y580H probably damaging Het
Col7a1 A G 9: 108,957,292 N530S unknown Het
Cops2 A T 2: 125,832,286 H420Q probably benign Het
Ctcfl A T 2: 173,101,905 C551S probably damaging Het
Depdc5 T C 5: 32,959,348 probably null Het
Dnmt1 A C 9: 20,941,564 V82G probably damaging Het
Fam90a1a A T 8: 21,963,439 N270I possibly damaging Het
Foxn4 T C 5: 114,256,597 D423G probably damaging Het
Gm15922 C G 7: 3,737,320 A301P probably damaging Het
Hoxa5 A G 6: 52,204,329 S8P probably damaging Het
Ighe A T 12: 113,269,433 V456D Het
Ighv1-52 A G 12: 115,145,590 F83S probably damaging Het
Itga2 A T 13: 114,853,755 N921K probably damaging Het
Kdm2b T C 5: 122,960,895 probably benign Het
Llgl2 T G 11: 115,851,103 M657R probably benign Het
Lrrcc1 T A 3: 14,565,830 I1019K possibly damaging Het
Lrriq3 A T 3: 155,164,001 D321V probably benign Het
Lsm10 T C 4: 126,098,097 V82A probably damaging Het
Mettl3 A G 14: 52,299,964 S154P possibly damaging Het
Naip2 T C 13: 100,162,062 I489V probably benign Het
Nat8f5 T A 6: 85,817,685 T98S possibly damaging Het
Olfr1218 A T 2: 89,054,868 L186Q probably damaging Het
Olfr1490 G A 19: 13,655,355 V309M possibly damaging Het
Olfr857 G T 9: 19,713,680 M284I possibly damaging Het
Olfr974 T A 9: 39,942,881 V207D probably damaging Het
Pld5 T C 1: 176,044,897 I225V probably benign Het
Ppfia1 C A 7: 144,514,916 A414S possibly damaging Het
Ppib T C 9: 66,060,333 V23A probably benign Het
Rabggta A T 14: 55,718,930 S361T probably benign Het
Rap1gap2 T C 11: 74,392,283 S664G probably benign Het
Recql5 A G 11: 115,927,352 V285A possibly damaging Het
Scarb2 A T 5: 92,451,448 S338T probably damaging Het
Skint4 T G 4: 112,119,806 probably benign Het
Slc13a5 T C 11: 72,253,370 K294R probably benign Het
Spib A G 7: 44,529,886 F32S probably benign Het
Spint2 A G 7: 29,260,129 probably benign Het
Sycp2 A T 2: 178,403,778 D16E probably damaging Het
Tab1 A G 15: 80,160,270 T500A probably benign Het
Tecpr2 T C 12: 110,936,420 F860L probably benign Het
Tg A G 15: 66,688,875 M1029V probably benign Het
Tmem126b C T 7: 90,469,622 V153I probably benign Het
Uba2 A T 7: 34,147,597 Y440N probably damaging Het
Vwa2 A G 19: 56,897,888 E129G probably benign Het
Wapl A G 14: 34,691,682 D167G probably benign Het
Zfp64 A G 2: 168,900,012 F332S probably damaging Het
Zfp786 C T 6: 47,821,254 R250H probably benign Het
Other mutations in Rtn4rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Rtn4rl1 APN 11 75265342 missense probably damaging 1.00
IGL02161:Rtn4rl1 APN 11 75265840 missense probably damaging 0.98
IGL02420:Rtn4rl1 APN 11 75265819 missense probably damaging 0.98
IGL02641:Rtn4rl1 APN 11 75265824 missense probably damaging 1.00
IGL02984:Rtn4rl1 UTSW 11 75265261 missense probably benign 0.10
R0699:Rtn4rl1 UTSW 11 75265222 missense possibly damaging 0.56
R0699:Rtn4rl1 UTSW 11 75265224 missense probably benign 0.15
R1669:Rtn4rl1 UTSW 11 75265927 missense probably benign
R1925:Rtn4rl1 UTSW 11 75266038 missense probably benign 0.17
R2679:Rtn4rl1 UTSW 11 75265726 missense probably benign 0.21
R4205:Rtn4rl1 UTSW 11 75265983 missense probably damaging 0.97
R4205:Rtn4rl1 UTSW 11 75265992 missense probably damaging 1.00
R6326:Rtn4rl1 UTSW 11 75266002 missense possibly damaging 0.83
R6703:Rtn4rl1 UTSW 11 75265528 missense probably benign 0.02
R7085:Rtn4rl1 UTSW 11 75265224 missense probably benign 0.03
R7203:Rtn4rl1 UTSW 11 75265750 missense possibly damaging 0.47
R7320:Rtn4rl1 UTSW 11 75194296 critical splice donor site probably null
R7754:Rtn4rl1 UTSW 11 75265045 missense probably benign
R8244:Rtn4rl1 UTSW 11 75265450 missense probably damaging 1.00
R8306:Rtn4rl1 UTSW 11 75265321 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTCCTCACCAGATCAAGTC -3'
(R):5'- TTCCTTGCTGGACATGTGGC -3'

Sequencing Primer
(F):5'- CGCTTACCACCTCTGACAG -3'
(R):5'- TCCTCAGCGGAGAGTGACTG -3'
Posted On2020-01-23