Incidental Mutation 'R3433:Rtn4rl2'
ID 266271
Institutional Source Beutler Lab
Gene Symbol Rtn4rl2
Ensembl Gene ENSMUSG00000050896
Gene Name reticulon 4 receptor-like 2
Synonyms Ngrl3, Ngrh1, Ngr2
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R3433 (G1)
Quality Score 177
Status Validated
Chromosome 2
Chromosomal Location 84702268-84717054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84702444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 376 (Y376C)
Ref Sequence ENSEMBL: ENSMUSP00000118362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054514] [ENSMUST00000151799]
AlphaFold Q7M6Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000054514
AA Change: Y370C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057725
Gene: ENSMUSG00000050896
AA Change: Y370C

DomainStartEndE-ValueType
LRRNT 30 64 1.45e-1 SMART
LRR 63 82 2.47e1 SMART
LRR 83 104 6.58e0 SMART
LRR 105 129 2.32e-1 SMART
LRR_TYP 130 153 2.4e-3 SMART
LRR_TYP 154 177 2.71e-2 SMART
LRR_TYP 178 201 1.36e-2 SMART
LRR_TYP 202 225 4.72e-2 SMART
LRR 226 249 1.25e-1 SMART
LRRCT 261 311 3.1e-7 SMART
low complexity region 367 378 N/A INTRINSIC
low complexity region 405 420 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151799
AA Change: Y376C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118362
Gene: ENSMUSG00000050896
AA Change: Y376C

DomainStartEndE-ValueType
LRRNT 36 70 1.45e-1 SMART
LRR 69 88 2.47e1 SMART
LRR 89 110 6.58e0 SMART
LRR 111 135 2.32e-1 SMART
LRR_TYP 136 159 2.4e-3 SMART
LRR_TYP 160 183 2.71e-2 SMART
LRR_TYP 184 207 1.36e-2 SMART
LRR_TYP 208 231 4.72e-2 SMART
LRR 232 255 1.25e-1 SMART
LRRCT 267 317 3.1e-7 SMART
low complexity region 373 384 N/A INTRINSIC
low complexity region 411 426 N/A INTRINSIC
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Abcf1 A G 17: 36,269,109 (GRCm39) Y689H probably benign Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Carmil3 A G 14: 55,745,151 (GRCm39) D1331G probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Lrrtm2 A C 18: 35,346,950 (GRCm39) S117R probably damaging Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2a57 A T 6: 43,212,607 (GRCm39) I22F probably damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I probably damaging Het
Other mutations in Rtn4rl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0626:Rtn4rl2 UTSW 2 84,710,763 (GRCm39) missense probably damaging 0.99
R0837:Rtn4rl2 UTSW 2 84,711,036 (GRCm39) missense probably damaging 1.00
R1392:Rtn4rl2 UTSW 2 84,710,856 (GRCm39) missense probably damaging 1.00
R1392:Rtn4rl2 UTSW 2 84,710,856 (GRCm39) missense probably damaging 1.00
R3857:Rtn4rl2 UTSW 2 84,710,730 (GRCm39) critical splice donor site probably null
R3858:Rtn4rl2 UTSW 2 84,710,730 (GRCm39) critical splice donor site probably null
R5044:Rtn4rl2 UTSW 2 84,702,846 (GRCm39) missense probably damaging 1.00
R5936:Rtn4rl2 UTSW 2 84,710,775 (GRCm39) missense probably damaging 1.00
R6800:Rtn4rl2 UTSW 2 84,710,967 (GRCm39) missense probably damaging 1.00
R7755:Rtn4rl2 UTSW 2 84,702,807 (GRCm39) missense possibly damaging 0.82
R8375:Rtn4rl2 UTSW 2 84,711,033 (GRCm39) missense possibly damaging 0.88
R8416:Rtn4rl2 UTSW 2 84,702,951 (GRCm39) missense probably damaging 1.00
R8805:Rtn4rl2 UTSW 2 84,702,558 (GRCm39) missense probably damaging 1.00
R9638:Rtn4rl2 UTSW 2 84,710,760 (GRCm39) missense probably damaging 1.00
R9749:Rtn4rl2 UTSW 2 84,702,954 (GRCm39) missense probably damaging 1.00
R9751:Rtn4rl2 UTSW 2 84,711,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCCATACTTAAGTCACAAC -3'
(R):5'- ACTCCGATTTCCAAGCGTG -3'

Sequencing Primer
(F):5'- AAATGAGGCAGCCTGGTCC -3'
(R):5'- TCCAACCACCTGTACGG -3'
Posted On 2015-02-18