Incidental Mutation 'IGL01606:Rtp4'
ID 93409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtp4
Ensembl Gene ENSMUSG00000033355
Gene Name receptor transporter protein 4
Synonyms 5830458K16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01606
Quality Score
Status
Chromosome 16
Chromosomal Location 23339041-23432972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23432004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 179 (S179T)
Ref Sequence ENSEMBL: ENSMUSP00000147442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038423] [ENSMUST00000209422] [ENSMUST00000210901] [ENSMUST00000211349] [ENSMUST00000211569]
AlphaFold Q9ER80
Predicted Effect probably benign
Transcript: ENSMUST00000038423
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041091
Gene: ENSMUSG00000033355
AA Change: S179T

DomainStartEndE-ValueType
zf-3CxxC 50 163 8.52e-52 SMART
low complexity region 175 197 N/A INTRINSIC
transmembrane domain 231 248 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209422
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000210901
AA Change: S179T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000211349
Predicted Effect probably benign
Transcript: ENSMUST00000211569
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 15,164,125 (GRCm39) D84G probably damaging Het
Adat3 A T 10: 80,443,172 (GRCm39) I337F probably damaging Het
Carmil3 T A 14: 55,731,306 (GRCm39) N128K possibly damaging Het
Ceacam2 T C 7: 25,230,132 (GRCm39) E158G possibly damaging Het
Cel T C 2: 28,450,576 (GRCm39) I150V probably benign Het
Chd5 A G 4: 152,445,432 (GRCm39) H441R probably damaging Het
Clic5 G T 17: 44,559,633 (GRCm39) R109L probably benign Het
Cpd T C 11: 76,703,466 (GRCm39) M466V probably benign Het
Cyp39a1 T A 17: 44,057,509 (GRCm39) probably benign Het
Dnah11 C A 12: 117,946,767 (GRCm39) A3106S probably benign Het
Fasn A C 11: 120,699,849 (GRCm39) probably null Het
Fat1 G A 8: 45,476,086 (GRCm39) V1688I probably benign Het
Fibcd1 A G 2: 31,723,865 (GRCm39) I258T probably benign Het
Frem2 C A 3: 53,561,012 (GRCm39) R1165I possibly damaging Het
Gm5627 C T 9: 102,626,685 (GRCm39) noncoding transcript Het
Gm5862 T A 5: 26,224,514 (GRCm39) T152S probably benign Het
Gnb3 T A 6: 124,814,218 (GRCm39) D154V probably damaging Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Klrb1 C A 6: 128,699,968 (GRCm39) E14D probably benign Het
Osbpl1a A T 18: 12,889,271 (GRCm39) D556E possibly damaging Het
Pkd1 T C 17: 24,795,497 (GRCm39) V2330A probably damaging Het
Pkdrej T C 15: 85,701,901 (GRCm39) K1345R possibly damaging Het
Plxna4 A G 6: 32,134,936 (GRCm39) F1756L probably damaging Het
Psg28 A C 7: 18,164,296 (GRCm39) S139A probably benign Het
Ptpru A T 4: 131,535,792 (GRCm39) I395N possibly damaging Het
Reps1 A G 10: 17,983,435 (GRCm39) E426G probably damaging Het
Sh3pxd2a C A 19: 47,257,035 (GRCm39) R561L probably benign Het
Slc29a2 T A 19: 5,077,467 (GRCm39) L215Q possibly damaging Het
Slc44a4 T C 17: 35,147,994 (GRCm39) F653L probably damaging Het
Sulf1 G T 1: 12,906,428 (GRCm39) R490L possibly damaging Het
Ttll4 T C 1: 74,725,052 (GRCm39) L602P probably damaging Het
Ttn A G 2: 76,607,134 (GRCm39) V17963A probably damaging Het
Urb1 A G 16: 90,557,347 (GRCm39) S1760P probably damaging Het
Zmynd11 G A 13: 9,747,724 (GRCm39) R149W probably damaging Het
Other mutations in Rtp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Rtp4 APN 16 23,431,704 (GRCm39) missense probably benign 0.01
PIT4696001:Rtp4 UTSW 16 23,432,204 (GRCm39) missense probably benign 0.23
R0049:Rtp4 UTSW 16 23,431,679 (GRCm39) missense probably benign 0.04
R0049:Rtp4 UTSW 16 23,431,679 (GRCm39) missense probably benign 0.04
R1694:Rtp4 UTSW 16 23,431,870 (GRCm39) makesense probably null
R2060:Rtp4 UTSW 16 23,431,690 (GRCm39) missense probably damaging 1.00
R2088:Rtp4 UTSW 16 23,431,963 (GRCm39) missense possibly damaging 0.86
R4232:Rtp4 UTSW 16 23,431,833 (GRCm39) missense possibly damaging 0.58
R4493:Rtp4 UTSW 16 23,428,827 (GRCm39) missense probably benign 0.23
R4646:Rtp4 UTSW 16 23,428,790 (GRCm39) missense probably benign 0.20
R8315:Rtp4 UTSW 16 23,431,998 (GRCm39) missense possibly damaging 0.93
R8399:Rtp4 UTSW 16 23,339,164 (GRCm39) intron probably benign
R8470:Rtp4 UTSW 16 23,428,827 (GRCm39) missense probably benign 0.23
R8743:Rtp4 UTSW 16 23,431,866 (GRCm39) missense possibly damaging 0.91
R9444:Rtp4 UTSW 16 23,431,836 (GRCm39) missense probably benign 0.18
R9607:Rtp4 UTSW 16 23,339,226 (GRCm39) critical splice donor site probably null
Posted On 2013-12-09