Incidental Mutation 'IGL02161:Rtn4rl1'
ID282481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn4rl1
Ensembl Gene ENSMUSG00000045287
Gene Namereticulon 4 receptor-like 1
SynonymsNgrl2, Ngrh2, Ngr3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02161
Quality Score
Status
Chromosome11
Chromosomal Location75193783-75267769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 75265840 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 366 (R366Q)
Ref Sequence ENSEMBL: ENSMUSP00000099572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102514]
Predicted Effect probably damaging
Transcript: ENSMUST00000102514
AA Change: R366Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099572
Gene: ENSMUSG00000045287
AA Change: R366Q

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
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,874,755 V1024D probably benign Het
Alox5 T A 6: 116,423,193 M262L probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Glrx2 C T 1: 143,739,683 S8L possibly damaging Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rnd3 C T 2: 51,134,076 V164M probably benign Het
Sesn2 A T 4: 132,496,918 I393N probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vax2 T C 6: 83,737,903 S267P probably damaging Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Rtn4rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Rtn4rl1 APN 11 75265342 missense probably damaging 1.00
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
Posted On2015-04-16