Incidental Mutation 'R4232:Rtp4'
ID 320934
Institutional Source Beutler Lab
Gene Symbol Rtp4
Ensembl Gene ENSMUSG00000033355
Gene Name receptor transporter protein 4
Synonyms 5830458K16Rik
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4232 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 23339041-23432972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23431833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 122 (N122D)
Ref Sequence ENSEMBL: ENSMUSP00000147442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038423] [ENSMUST00000209422] [ENSMUST00000210901] [ENSMUST00000211349] [ENSMUST00000211569]
AlphaFold Q9ER80
Predicted Effect possibly damaging
Transcript: ENSMUST00000038423
AA Change: N122D

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041091
Gene: ENSMUSG00000033355
AA Change: N122D

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 possibly damaging
Transcript: ENSMUST00000209422
AA Change: N122D

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210901
AA Change: N122D

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211349
Predicted Effect probably benign
Transcript: ENSMUST00000211569
AA Change: N122D

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGCTGCAGAAGTTGGACCTC -3'
(R):5'- CAGCTCTTTGATGGGGAGGAAC -3'

Sequencing Primer
(F):5'- AGAAGTTGGACCTCTGCTCAG -3'
(R):5'- ACTCTTTGGTAATGGAGATGGAGATC -3'
Posted On 2015-06-12