Incidental Mutation 'R0377:Rtp1'
ID30827
Institutional Source Beutler Lab
Gene Symbol Rtp1
Ensembl Gene ENSMUSG00000033383
Gene Namereceptor transporter protein 1
SynonymsLOC239766, LOC385871
MMRRC Submission 038583-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R0377 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location23429133-23433960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23431284 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000043416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038730]
Predicted Effect probably damaging
Transcript: ENSMUST00000038730
AA Change: Y133C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: Y133C

DomainStartEndE-ValueType
zf-3CxxC 87 197 3.5e-39 SMART
transmembrane domain 235 257 N/A INTRINSIC
Meta Mutation Damage Score 0.0881 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 97% (67/69)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility and abnormal olfactory bulb development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C A 11: 94,375,096 V107F possibly damaging Het
Acad11 T A 9: 104,081,692 probably benign Het
Ache G A 5: 137,290,928 E299K possibly damaging Het
Adam5 T C 8: 24,747,541 T618A probably benign Het
Amigo2 T A 15: 97,246,380 T54S possibly damaging Het
Anapc1 A G 2: 128,641,340 probably null Het
Armc4 G A 18: 7,127,415 R933C probably benign Het
Btaf1 A G 19: 36,989,002 K1057E probably benign Het
Cep55 T A 19: 38,071,889 L396* probably null Het
Cic C A 7: 25,285,799 H1157N probably damaging Het
Cntnap5a A T 1: 116,292,529 T690S probably benign Het
D5Ertd579e A T 5: 36,604,567 C1319S probably benign Het
Dnah6 A G 6: 73,121,992 S2027P possibly damaging Het
Dntt G A 19: 41,047,627 W369* probably null Het
Esp18 T A 17: 39,409,944 W27R probably benign Het
Fam227b A T 2: 126,125,000 probably benign Het
Fbxo31 G A 8: 121,559,102 probably benign Het
Gm13547 G A 2: 29,761,791 probably null Het
Gnl2 T A 4: 125,046,382 probably benign Het
Gpx2 G A 12: 76,795,156 Q74* probably null Het
Gucy2c A G 6: 136,750,917 probably null Het
Hoxa5 A T 6: 52,202,646 W250R probably damaging Het
Izumo4 G A 10: 80,702,840 R42H probably damaging Het
Kcnj12 G A 11: 61,069,396 M71I probably benign Het
Kmt2b A T 7: 30,574,193 L2333Q probably damaging Het
Mak T C 13: 41,049,348 E177G probably damaging Het
Map3k7 T A 4: 31,985,731 I218N probably damaging Het
Mark3 T C 12: 111,629,029 L393P probably damaging Het
Msh4 A G 3: 153,896,890 S234P probably benign Het
Mug1 A G 6: 121,857,361 D367G probably benign Het
Mypn A G 10: 63,127,622 probably benign Het
Ncapg T C 5: 45,693,817 V784A probably benign Het
Nutf2 T A 8: 105,878,872 V113D probably damaging Het
Olfr1080 A T 2: 86,553,583 D180E probably damaging Het
Opn3 T C 1: 175,663,694 M258V probably damaging Het
Osbpl7 A G 11: 97,055,934 D211G probably damaging Het
Pcnx C T 12: 81,974,579 probably benign Het
Plekhd1 G A 12: 80,706,436 probably benign Het
Pnpla6 A G 8: 3,541,501 E1165G probably damaging Het
Prkab2 T A 3: 97,662,317 D66E probably benign Het
Prpsap2 A G 11: 61,741,000 I177T possibly damaging Het
Ptpn23 A T 9: 110,388,132 S885R possibly damaging Het
Rab26 A T 17: 24,530,045 probably benign Het
Rab5a G A 17: 53,500,462 M175I probably benign Het
Rassf9 T A 10: 102,545,649 D297E probably benign Het
Rimbp2 C T 5: 128,803,861 R161Q probably damaging Het
Sdr16c5 G A 4: 4,005,546 L263F probably benign Het
Sec14l1 T G 11: 117,149,140 probably benign Het
Snrnp40 C G 4: 130,378,043 probably null Het
Spaca1 T C 4: 34,044,267 probably null Het
Stk36 C T 1: 74,612,730 P394L probably benign Het
Stk4 T C 2: 164,096,800 I196T probably damaging Het
Sult1b1 A T 5: 87,517,376 M233K probably damaging Het
Tmem8b C T 4: 43,674,005 T212M probably damaging Het
Tmprss11g A T 5: 86,490,751 F293I probably damaging Het
Tnfsf11 T G 14: 78,299,912 T104P probably benign Het
Trmt2a G A 16: 18,249,703 R80Q possibly damaging Het
Trps1 C A 15: 50,831,778 E324* probably null Het
U2surp C T 9: 95,484,443 V470I probably benign Het
Wdr18 G A 10: 79,967,502 R400H probably benign Het
Wdr78 A G 4: 103,048,259 V775A probably damaging Het
Zfp119b T A 17: 55,938,671 H505L probably damaging Het
Zfp619 T A 7: 39,536,797 C750* probably null Het
Zfr T C 15: 12,160,591 I750T probably benign Het
Other mutations in Rtp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02276:Rtp1 APN 16 23431313 missense probably benign 0.07
IGL02329:Rtp1 APN 16 23431193 missense probably damaging 1.00
IGL02432:Rtp1 APN 16 23431404 missense probably damaging 1.00
IGL02690:Rtp1 APN 16 23431382 missense probably damaging 1.00
IGL03046:Rtp1 UTSW 16 23429294 missense probably benign 0.30
P0028:Rtp1 UTSW 16 23429366 missense probably damaging 1.00
R0319:Rtp1 UTSW 16 23431460 missense probably damaging 1.00
R0972:Rtp1 UTSW 16 23431308 missense probably damaging 0.99
R1498:Rtp1 UTSW 16 23431220 missense probably benign 0.00
R1751:Rtp1 UTSW 16 23431374 missense probably damaging 0.98
R1767:Rtp1 UTSW 16 23431374 missense probably damaging 0.98
R1900:Rtp1 UTSW 16 23429299 missense probably benign
R1921:Rtp1 UTSW 16 23431410 missense probably damaging 1.00
R1922:Rtp1 UTSW 16 23431410 missense probably damaging 1.00
R1927:Rtp1 UTSW 16 23431209 missense probably damaging 1.00
R2102:Rtp1 UTSW 16 23431358 missense probably benign 0.04
R5118:Rtp1 UTSW 16 23431535 missense probably benign 0.00
R5484:Rtp1 UTSW 16 23429275 missense probably benign
R5614:Rtp1 UTSW 16 23431190 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- CTTGGGCACTCACATAGAGCAAGG -3'
(R):5'- GATGATGAGCATCAAAACCGTGGC -3'

Sequencing Primer
(F):5'- CTGGGGACTGTCAACACAC -3'
(R):5'- AGCCTGAGCCTGTTTCAGC -3'
Posted On2013-04-24