Incidental Mutation 'R8470:Rtp4'
ID 657007
Institutional Source Beutler Lab
Gene Symbol Rtp4
Ensembl Gene ENSMUSG00000033355
Gene Name receptor transporter protein 4
Synonyms 5830458K16Rik
MMRRC Submission 067914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8470 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 23339041-23432972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23428827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 30 (H30L)
Ref Sequence ENSEMBL: ENSMUSP00000148086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038423] [ENSMUST00000209422] [ENSMUST00000210901] [ENSMUST00000211349] [ENSMUST00000211569]
AlphaFold Q9ER80
Predicted Effect probably benign
Transcript: ENSMUST00000038423
AA Change: H30L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041091
Gene: ENSMUSG00000033355
AA Change: H30L

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: H30L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000210901
AA Change: H30L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000211349
AA Change: H30L

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000211569
AA Change: H30L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,476,685 (GRCm39) I142F probably damaging Het
Adamts16 A G 13: 70,984,496 (GRCm39) Y56H probably damaging Het
Alms1 A G 6: 85,618,357 (GRCm39) D2801G probably damaging Het
Anpep A G 7: 79,489,269 (GRCm39) I301T probably benign Het
Atxn7l2 G A 3: 108,114,285 (GRCm39) T159M probably benign Het
B130006D01Rik C T 11: 95,617,175 (GRCm39) probably benign Het
Btf3l4b C A 13: 96,217,432 (GRCm39) D136Y possibly damaging Het
Ccdc175 T C 12: 72,202,392 (GRCm39) K301R probably damaging Het
Cecr2 A T 6: 120,733,894 (GRCm39) Q627L probably benign Het
Cerkl C A 2: 79,172,751 (GRCm39) M307I probably benign Het
Eif2ak4 A G 2: 118,293,207 (GRCm39) I1254M probably damaging Het
Epha3 T C 16: 63,664,510 (GRCm39) T37A probably benign Het
Fancm T C 12: 65,171,931 (GRCm39) V1857A probably damaging Het
Gm3486 T C 14: 41,206,538 (GRCm39) probably null Het
Il1r2 T C 1: 40,162,416 (GRCm39) V353A probably damaging Het
Irgq A T 7: 24,233,715 (GRCm39) R519W probably damaging Het
Map1b T A 13: 99,652,950 (GRCm39) S16C probably damaging Het
Myo9a T G 9: 59,739,573 (GRCm39) C762G probably damaging Het
Nup107 A T 10: 117,606,374 (GRCm39) V454E probably damaging Het
Or10h5 A G 17: 33,434,868 (GRCm39) V150A probably benign Het
Or4p20 A T 2: 88,254,228 (GRCm39) I47N probably damaging Het
Or7g35 T G 9: 19,496,265 (GRCm39) L144R probably damaging Het
Pcdha11 A G 18: 37,145,937 (GRCm39) K676R probably benign Het
Pknox2 C T 9: 36,834,986 (GRCm39) R161H probably damaging Het
Prr5l T C 2: 101,547,430 (GRCm39) N365S probably benign Het
Prrg4 A G 2: 104,679,501 (GRCm39) L8P probably damaging Het
Rasgrp2 T A 19: 6,453,595 (GRCm39) probably null Het
Rxfp2 T G 5: 149,993,834 (GRCm39) I632S possibly damaging Het
Spata31h1 A C 10: 82,126,314 (GRCm39) F2232C probably damaging Het
Sptbn1 C A 11: 30,070,758 (GRCm39) E1533D possibly damaging Het
Ssbp1 A G 6: 40,454,941 (GRCm39) I133M probably damaging Het
Stap1 A G 5: 86,242,602 (GRCm39) I188V possibly damaging Het
Topaz1 T C 9: 122,603,173 (GRCm39) M1040T probably benign Het
Trpm3 T C 19: 22,887,501 (GRCm39) F877L possibly damaging Het
Ush1c A G 7: 45,858,674 (GRCm39) L538P probably damaging Het
Zfp518a G A 19: 40,904,162 (GRCm39) A1364T probably benign Het
Other mutations in Rtp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Rtp4 APN 16 23,432,004 (GRCm39) missense probably benign 0.18
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
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
Predicted Primers PCR Primer
(F):5'- CCTAAGGTTTCTGTGCACCTTG -3'
(R):5'- GCCACACCTGTTCTTTCTAACAAG -3'

Sequencing Primer
(F):5'- CTAAGGTTTCTGTGCACCTTGGAAAC -3'
(R):5'- CTAACAAGTATTAGAGGCTGCATCAG -3'
Posted On 2021-01-18