Incidental Mutation 'R2011:Rtp3'
ID 219726
Institutional Source Beutler Lab
Gene Symbol Rtp3
Ensembl Gene ENSMUSG00000066319
Gene Name receptor transporter protein 3
Synonyms Tmem7
MMRRC Submission 040020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110814003-110818781 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 110815102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000084922] [ENSMUST00000198702] [ENSMUST00000199891]
AlphaFold Q5QGU6
Predicted Effect probably benign
Transcript: ENSMUST00000035076
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495

DomainStartEndE-ValueType
Blast:LRR 143 165 5e-7 BLAST
LRR_TYP 166 189 4.87e-4 SMART
LRR 236 258 1.41e1 SMART
LRR 259 282 2.27e1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000084922
AA Change: I421N
SMART Domains Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: I421N

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197321
Predicted Effect probably benign
Transcript: ENSMUST00000198702
SMART Domains Protein: ENSMUSP00000143100
Gene: ENSMUSG00000066319

DomainStartEndE-ValueType
Pfam:zf-3CxxC 52 81 2.5e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000199891
AA Change: I421N
SMART Domains Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: I421N

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,042,742 (GRCm38) T100S probably benign Het
Adam6a T C 12: 113,508,998 (GRCm39) I457T probably benign Het
Aff3 T C 1: 38,246,996 (GRCm39) N863S probably benign Het
Agk C A 6: 40,353,168 (GRCm39) D177E probably benign Het
Alg9 C T 9: 50,699,500 (GRCm39) A209V probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Bpi A T 2: 158,103,272 (GRCm39) H89L probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Cblc T A 7: 19,518,747 (GRCm39) D452V probably benign Het
Ccar1 T C 10: 62,612,473 (GRCm39) T231A probably benign Het
Ccdc112 A G 18: 46,420,499 (GRCm39) L417P probably damaging Het
Ccdc34 G A 2: 109,874,649 (GRCm39) R336Q possibly damaging Het
CK137956 A G 4: 127,844,829 (GRCm39) S305P probably benign Het
Clip2 T C 5: 134,531,969 (GRCm39) D612G probably damaging Het
Col28a1 T C 6: 8,059,360 (GRCm39) T692A probably benign Het
Copg2 A T 6: 30,793,676 (GRCm39) probably null Het
Ctnna2 T A 6: 76,950,774 (GRCm39) I566F possibly damaging Het
Cux2 C T 5: 121,999,389 (GRCm39) D1184N probably benign Het
Dclk3 A G 9: 111,297,422 (GRCm39) E322G probably benign Het
Ddx41 A T 13: 55,681,906 (GRCm39) probably null Het
Dnaaf2 G A 12: 69,243,559 (GRCm39) P107S probably damaging Het
Eif2ak4 A G 2: 118,261,428 (GRCm39) E578G probably damaging Het
Exd1 A G 2: 119,359,144 (GRCm39) probably benign Het
Fat2 G A 11: 55,173,583 (GRCm39) P2377S probably damaging Het
Fbxl18 T C 5: 142,858,214 (GRCm39) T741A probably benign Het
Fgr C A 4: 132,724,832 (GRCm39) A311E probably damaging Het
Fmo4 T C 1: 162,626,458 (GRCm39) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm39) V235A probably benign Het
Gm1110 T A 9: 26,805,554 (GRCm39) H366L probably benign Het
Gm43302 T C 5: 105,438,846 (GRCm39) N14S probably damaging Het
Gm5422 A G 10: 31,124,764 (GRCm39) noncoding transcript Het
Gm57858 A T 3: 36,064,827 (GRCm39) C515* probably null Het
Gpr21 A G 2: 37,407,547 (GRCm39) E31G probably damaging Het
Gucy1b2 G T 14: 62,646,207 (GRCm39) N560K probably damaging Het
Hmcn1 T C 1: 150,553,085 (GRCm39) Q2535R probably benign Het
Hnrnpm A T 17: 33,883,598 (GRCm39) N264K probably damaging Het
Hyal6 A T 6: 24,734,723 (GRCm39) I219L possibly damaging Het
Ifi211 A G 1: 173,735,169 (GRCm39) S87P probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Iqca1 T C 1: 89,973,348 (GRCm39) N808S probably benign Het
Kcnu1 A G 8: 26,408,470 (GRCm39) I94V probably benign Het
Lrba A T 3: 86,217,324 (GRCm39) E517V probably damaging Het
Mcidas A G 13: 113,130,515 (GRCm39) E37G possibly damaging Het
Med23 T A 10: 24,755,653 (GRCm39) F83L possibly damaging Het
Micu2 T C 14: 58,191,590 (GRCm39) probably null Het
Mrgprx2 A T 7: 48,132,282 (GRCm39) C179S probably damaging Het
Myo6 A G 9: 80,215,004 (GRCm39) T1236A probably damaging Het
Myo7a A T 7: 97,703,915 (GRCm39) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 77,636,422 (GRCm39) I508F possibly damaging Het
Or11g27 T C 14: 50,771,141 (GRCm39) S91P probably damaging Het
Or14a260 A T 7: 85,984,955 (GRCm39) Y216* probably null Het
Or2ag13 T C 7: 106,472,634 (GRCm39) I273V probably benign Het
Or5w1b A T 2: 87,476,233 (GRCm39) I78N probably damaging Het
Or8k23 A T 2: 86,186,530 (GRCm39) H65Q possibly damaging Het
Or9s13 T C 1: 92,548,471 (GRCm39) V281A probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
P2ry10 A C X: 106,146,241 (GRCm39) I59L probably damaging Het
Parp11 A G 6: 127,454,854 (GRCm39) N124S probably benign Het
Pcdh7 T A 5: 57,876,971 (GRCm39) N175K probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phc2 T A 4: 128,617,378 (GRCm39) V468E probably benign Het
Piezo2 T C 18: 63,192,815 (GRCm39) T1605A probably damaging Het
Pik3cb A T 9: 98,987,632 (GRCm39) Y35* probably null Het
Piwil2 A T 14: 70,664,083 (GRCm39) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm39) F101L probably damaging Het
Pomt2 A G 12: 87,158,173 (GRCm39) L680P possibly damaging Het
Ppp1r36 A G 12: 76,465,700 (GRCm39) probably null Het
Prkag2 C T 5: 25,076,052 (GRCm39) probably null Het
Prkg1 T C 19: 31,641,542 (GRCm39) D47G possibly damaging Het
Prl6a1 G A 13: 27,499,352 (GRCm39) G45D probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rlig1 T G 10: 100,419,820 (GRCm39) D58A probably damaging Het
Rtcb A T 10: 85,777,797 (GRCm39) I459N probably damaging Het
Rundc3b T A 5: 8,562,409 (GRCm39) probably null Het
Scube3 A G 17: 28,387,132 (GRCm39) T877A probably damaging Het
Sh2d4a A T 8: 68,799,394 (GRCm39) Q421L probably benign Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slco1c1 T A 6: 141,500,833 (GRCm39) F437L probably benign Het
Slco3a1 G A 7: 73,996,419 (GRCm39) A329V probably benign Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spen A T 4: 141,200,640 (GRCm39) N2662K probably damaging Het
Sptb G C 12: 76,679,246 (GRCm39) R70G possibly damaging Het
Stk3 A G 15: 35,072,644 (GRCm39) S136P probably damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Tbx5 T C 5: 119,979,971 (GRCm39) probably null Het
Tchh G A 3: 93,354,268 (GRCm39) R1236Q unknown Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem151a C T 19: 5,132,966 (GRCm39) R80H probably benign Het
Tpgs1 T C 10: 79,511,722 (GRCm39) L288P probably damaging Het
Trhde T C 10: 114,334,698 (GRCm39) I659V probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Ttc5 C A 14: 51,019,007 (GRCm39) E37* probably null Het
Uvrag A G 7: 98,589,096 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,283 (GRCm39) D159V probably damaging Het
Vmn2r78 G A 7: 86,604,287 (GRCm39) V822M possibly damaging Het
Vnn1 C A 10: 23,770,869 (GRCm39) Y32* probably null Het
Wrn A G 8: 33,726,432 (GRCm39) V1380A probably benign Het
Zc3h14 A C 12: 98,746,527 (GRCm39) S579R possibly damaging Het
Zfp277 G A 12: 40,367,217 (GRCm39) Q480* probably null Het
Zfp456 G A 13: 67,514,993 (GRCm39) Q238* probably null Het
Zranb3 T A 1: 128,019,638 (GRCm39) T35S probably benign Het
Other mutations in Rtp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Rtp3 APN 9 110,815,666 (GRCm39) missense probably benign 0.03
IGL02212:Rtp3 APN 9 110,816,389 (GRCm39) splice site probably benign
IGL03033:Rtp3 APN 9 110,815,162 (GRCm39) unclassified probably benign
R0392:Rtp3 UTSW 9 110,818,621 (GRCm39) missense probably damaging 0.98
R0529:Rtp3 UTSW 9 110,816,152 (GRCm39) missense possibly damaging 0.93
R0645:Rtp3 UTSW 9 110,816,168 (GRCm39) missense probably damaging 0.97
R1282:Rtp3 UTSW 9 110,815,988 (GRCm39) missense probably benign 0.01
R1609:Rtp3 UTSW 9 110,815,085 (GRCm39) unclassified probably benign
R1649:Rtp3 UTSW 9 110,815,772 (GRCm39) missense probably benign 0.00
R1662:Rtp3 UTSW 9 110,815,751 (GRCm39) missense probably benign 0.23
R3697:Rtp3 UTSW 9 110,816,262 (GRCm39) missense possibly damaging 0.86
R4661:Rtp3 UTSW 9 110,815,519 (GRCm39) splice site probably null
R4707:Rtp3 UTSW 9 110,815,279 (GRCm39) unclassified probably benign
R4764:Rtp3 UTSW 9 110,816,418 (GRCm39) intron probably benign
R4796:Rtp3 UTSW 9 110,815,522 (GRCm39) missense probably benign 0.00
R4839:Rtp3 UTSW 9 110,818,544 (GRCm39) missense probably damaging 1.00
R5262:Rtp3 UTSW 9 110,815,195 (GRCm39) unclassified probably benign
R5886:Rtp3 UTSW 9 110,816,204 (GRCm39) missense probably damaging 1.00
R5932:Rtp3 UTSW 9 110,815,760 (GRCm39) missense probably benign 0.04
R6089:Rtp3 UTSW 9 110,816,041 (GRCm39) missense probably benign 0.00
R6545:Rtp3 UTSW 9 110,815,894 (GRCm39) missense possibly damaging 0.83
R6812:Rtp3 UTSW 9 110,816,180 (GRCm39) missense probably benign 0.14
R6895:Rtp3 UTSW 9 110,816,264 (GRCm39) missense possibly damaging 0.72
R7023:Rtp3 UTSW 9 110,815,714 (GRCm39) missense probably benign 0.00
R7113:Rtp3 UTSW 9 110,815,767 (GRCm39) missense probably damaging 0.98
R7167:Rtp3 UTSW 9 110,815,772 (GRCm39) missense probably benign 0.01
R7171:Rtp3 UTSW 9 110,815,009 (GRCm39) missense unknown
R7359:Rtp3 UTSW 9 110,815,364 (GRCm39) missense probably benign 0.33
R7721:Rtp3 UTSW 9 110,814,948 (GRCm39) nonsense probably null
R9402:Rtp3 UTSW 9 110,815,031 (GRCm39) missense unknown
R9600:Rtp3 UTSW 9 110,815,198 (GRCm39) missense unknown
R9623:Rtp3 UTSW 9 110,818,600 (GRCm39) missense probably damaging 1.00
R9648:Rtp3 UTSW 9 110,815,586 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCCACTCAAGAGCTTTTGG -3'
(R):5'- AAGGCATTGCTCTCATCCCC -3'

Sequencing Primer
(F):5'- ACCCACTCAAGAGCTTTTGGTTTTTG -3'
(R):5'- AGGCATTGCTCTCATCCCCTTTATAC -3'
Posted On 2014-08-25