Incidental Mutation 'R8165:Ripor1'
ID 633726
Institutional Source Beutler Lab
Gene Symbol Ripor1
Ensembl Gene ENSMUSG00000038604
Gene Name RHO family interacting cell polarization regulator 1
Synonyms 2310066E14Rik, Fam65a
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106331887-106348851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106347520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 1028 (L1028M)
Ref Sequence ENSEMBL: ENSMUSP00000039966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043531] [ENSMUST00000194091]
AlphaFold Q68FE6
Predicted Effect unknown
Transcript: ENSMUST00000043531
AA Change: L1028M
SMART Domains Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: L1028M

DomainStartEndE-ValueType
Pfam:PL48 17 365 1.7e-170 PFAM
low complexity region 376 391 N/A INTRINSIC
low complexity region 399 413 N/A INTRINSIC
low complexity region 564 586 N/A INTRINSIC
low complexity region 595 655 N/A INTRINSIC
low complexity region 673 688 N/A INTRINSIC
low complexity region 748 771 N/A INTRINSIC
low complexity region 858 870 N/A INTRINSIC
Pfam:HEAT_2 1135 1209 3.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194091
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Ripor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ripor1 APN 8 106,348,065 (GRCm39) intron probably benign
IGL00658:Ripor1 APN 8 106,344,749 (GRCm39) intron probably benign
IGL01511:Ripor1 APN 8 106,346,562 (GRCm39) intron probably benign
IGL01733:Ripor1 APN 8 106,342,378 (GRCm39) missense possibly damaging 0.63
IGL02805:Ripor1 APN 8 106,344,203 (GRCm39) missense probably damaging 0.99
IGL03049:Ripor1 APN 8 106,342,079 (GRCm39) missense probably damaging 0.96
IGL03246:Ripor1 APN 8 106,342,490 (GRCm39) missense possibly damaging 0.92
dank UTSW 8 106,344,746 (GRCm39) intron probably benign
Regenerative UTSW 8 106,348,063 (GRCm39) missense unknown
riparian UTSW 8 106,344,417 (GRCm39) missense possibly damaging 0.94
R0650:Ripor1 UTSW 8 106,344,746 (GRCm39) intron probably benign
R1109:Ripor1 UTSW 8 106,345,560 (GRCm39) intron probably benign
R1480:Ripor1 UTSW 8 106,342,180 (GRCm39) missense probably damaging 0.96
R1914:Ripor1 UTSW 8 106,343,518 (GRCm39) missense probably damaging 1.00
R1915:Ripor1 UTSW 8 106,343,518 (GRCm39) missense probably damaging 1.00
R2067:Ripor1 UTSW 8 106,344,340 (GRCm39) missense probably benign 0.05
R2111:Ripor1 UTSW 8 106,341,344 (GRCm39) missense probably damaging 1.00
R2513:Ripor1 UTSW 8 106,344,254 (GRCm39) missense probably benign 0.27
R4119:Ripor1 UTSW 8 106,345,489 (GRCm39) intron probably benign
R4120:Ripor1 UTSW 8 106,345,489 (GRCm39) intron probably benign
R4415:Ripor1 UTSW 8 106,344,608 (GRCm39) missense probably benign 0.10
R4668:Ripor1 UTSW 8 106,341,284 (GRCm39) missense probably benign 0.30
R4679:Ripor1 UTSW 8 106,344,417 (GRCm39) missense possibly damaging 0.94
R4777:Ripor1 UTSW 8 106,341,622 (GRCm39) missense probably damaging 1.00
R4930:Ripor1 UTSW 8 106,343,814 (GRCm39) missense probably damaging 1.00
R5004:Ripor1 UTSW 8 106,345,452 (GRCm39) frame shift probably null
R5569:Ripor1 UTSW 8 106,344,147 (GRCm39) missense probably damaging 0.98
R5868:Ripor1 UTSW 8 106,342,636 (GRCm39) missense probably damaging 1.00
R7187:Ripor1 UTSW 8 106,344,506 (GRCm39) missense probably benign 0.22
R7311:Ripor1 UTSW 8 106,344,447 (GRCm39) nonsense probably null
R8117:Ripor1 UTSW 8 106,344,105 (GRCm39) missense probably damaging 0.98
R9047:Ripor1 UTSW 8 106,342,783 (GRCm39) missense probably damaging 1.00
R9056:Ripor1 UTSW 8 106,344,072 (GRCm39) missense possibly damaging 0.67
R9172:Ripor1 UTSW 8 106,347,833 (GRCm39) missense unknown
R9246:Ripor1 UTSW 8 106,345,522 (GRCm39) missense unknown
R9267:Ripor1 UTSW 8 106,348,063 (GRCm39) missense unknown
R9798:Ripor1 UTSW 8 106,342,798 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGAAGAGAATCCGTGTCCTCC -3'
(R):5'- TCATCATTTACACCCTCAGGAC -3'

Sequencing Primer
(F):5'- AGAATCCGTGTCCTCCAGAGTG -3'
(R):5'- CTCAGGACCACCCACGG -3'
Posted On 2020-07-13