Incidental Mutation 'IGL03405:Rtp2'
ID421583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtp2
Ensembl Gene ENSMUSG00000047531
Gene Namereceptor transporter protein 2
SynonymsLOC224055
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03405
Quality Score
Status
Chromosome16
Chromosomal Location23925548-23932394 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 23927576 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 122 (S122A)
Ref Sequence ENSEMBL: ENSMUSP00000155556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061030] [ENSMUST00000231038]
Predicted Effect probably benign
Transcript: ENSMUST00000061030
AA Change: S102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062178
Gene: ENSMUSG00000047531
AA Change: S102A

DomainStartEndE-ValueType
zf-3CxxC 51 161 1.12e-46 SMART
transmembrane domain 194 216 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231038
AA Change: S122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Btbd3 G A 2: 138,279,761 M121I probably damaging Het
Caprin1 G A 2: 103,779,505 R143C probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Eno2 T A 6: 124,763,885 Y236F probably benign Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nr2e1 G A 10: 42,568,381 A244V probably damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Retreg3 T C 11: 101,100,969 D46G probably damaging Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown Het
Other mutations in Rtp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1434:Rtp2 UTSW 16 23927443 missense probably benign 0.01
R1468:Rtp2 UTSW 16 23927470 missense probably damaging 1.00
R1468:Rtp2 UTSW 16 23927470 missense probably damaging 1.00
R1619:Rtp2 UTSW 16 23930671 missense probably damaging 1.00
R1738:Rtp2 UTSW 16 23927673 missense probably benign 0.01
R1944:Rtp2 UTSW 16 23927566 missense possibly damaging 0.95
R2129:Rtp2 UTSW 16 23927707 missense probably damaging 1.00
R2909:Rtp2 UTSW 16 23927485 missense probably damaging 1.00
Posted On2016-08-02