Incidental Mutation 'R4119:Ripor1'
ID315231
Institutional Source Beutler Lab
Gene Symbol Ripor1
Ensembl Gene ENSMUSG00000038604
Gene NameRHO family interacting cell polarization regulator 1
SynonymsFam65a, 2310066E14Rik
MMRRC Submission 040992-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.481) question?
Stock #R4119 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location105605255-105622219 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 105618857 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043531] [ENSMUST00000194091]
Predicted Effect unknown
Transcript: ENSMUST00000043531
AA Change: I845N
SMART Domains Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: I845N

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 noncoding transcript
Transcript: ENSMUST00000158807
Predicted Effect probably benign
Transcript: ENSMUST00000194091
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Meta Mutation Damage Score 0.1931 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,356,904 L39P probably damaging Het
Abcc1 A G 16: 14,394,013 M138V probably benign Het
Abl1 T A 2: 31,801,727 I1067N probably damaging Het
Adam6a C T 12: 113,544,574 T189I probably benign Het
Ankfy1 G A 11: 72,714,484 probably null Het
Aplnr T C 2: 85,136,966 Y112H possibly damaging Het
Arhgap17 A G 7: 123,306,994 F313S probably damaging Het
Arid1b T C 17: 4,995,794 probably benign Het
Bcas1 G C 2: 170,378,815 P394A probably benign Het
Ccdc116 A G 16: 17,142,187 S213P probably damaging Het
Cdh15 T C 8: 122,863,423 V365A probably damaging Het
Cenpf A G 1: 189,653,045 I2346T probably benign Het
Chd7 A G 4: 8,785,658 probably benign Het
Ezh2 A C 6: 47,544,548 N390K probably benign Het
Fbxo7 C A 10: 86,021,895 probably benign Het
Fibin A G 2: 110,362,690 Y36H probably damaging Het
Gm597 A T 1: 28,777,973 V326D probably damaging Het
Gpr37 C T 6: 25,688,426 R224H possibly damaging Het
Hars2 A T 18: 36,790,488 N363I probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Itpr1 G A 6: 108,394,355 D1140N probably benign Het
Lrig2 A G 3: 104,467,195 V190A probably benign Het
Ltk T A 2: 119,757,948 probably benign Het
Morc2a C A 11: 3,683,868 T660N probably benign Het
Msh3 A G 13: 92,354,011 probably benign Het
Myo15b T C 11: 115,873,492 S1311P probably benign Het
Nbeal1 A T 1: 60,291,870 I2213L probably damaging Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1155 A G 2: 87,943,443 Y62H probably damaging Het
P2ry12 T C 3: 59,217,841 T138A probably benign Het
Pirb T C 7: 3,717,575 D308G probably damaging Het
Pkn3 A G 2: 30,083,037 probably benign Het
Ryr2 T C 13: 11,779,267 T942A probably benign Het
Sptbn5 T A 2: 120,064,529 D798V possibly damaging Het
Synpo2 T A 3: 123,117,150 D282V probably damaging Het
Tnik T C 3: 28,666,175 F1287L probably damaging Het
Tshz1 T G 18: 84,014,189 K698T probably benign Het
Ttc23l A C 15: 10,539,920 V159G probably damaging Het
Urb2 T A 8: 124,047,240 D1503E probably benign Het
Usp29 T A 7: 6,962,806 N549K probably benign Het
Vmn2r39 G A 7: 9,023,674 H443Y probably benign Het
Zfp24 A G 18: 24,014,569 Y229H possibly damaging Het
Zfp472 T A 17: 32,978,215 Y421* probably null Het
Zkscan3 T C 13: 21,393,949 E256G possibly damaging Het
Other mutations in Ripor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ripor1 APN 8 105621433 intron probably benign
IGL00658:Ripor1 APN 8 105618117 intron probably benign
IGL01511:Ripor1 APN 8 105619930 intron probably benign
IGL01733:Ripor1 APN 8 105615746 missense possibly damaging 0.63
IGL02805:Ripor1 APN 8 105617571 missense probably damaging 0.99
IGL03049:Ripor1 APN 8 105615447 missense probably damaging 0.96
IGL03246:Ripor1 APN 8 105615858 missense possibly damaging 0.92
R0650:Ripor1 UTSW 8 105618114 intron probably benign
R1109:Ripor1 UTSW 8 105618928 intron probably benign
R1480:Ripor1 UTSW 8 105615548 missense probably damaging 0.96
R1914:Ripor1 UTSW 8 105616886 missense probably damaging 1.00
R1915:Ripor1 UTSW 8 105616886 missense probably damaging 1.00
R2067:Ripor1 UTSW 8 105617708 missense probably benign 0.05
R2111:Ripor1 UTSW 8 105614712 missense probably damaging 1.00
R2513:Ripor1 UTSW 8 105617622 missense probably benign 0.27
R4120:Ripor1 UTSW 8 105618857 intron probably benign
R4415:Ripor1 UTSW 8 105617976 missense probably benign 0.10
R4668:Ripor1 UTSW 8 105614652 missense probably benign 0.30
R4679:Ripor1 UTSW 8 105617785 missense possibly damaging 0.94
R4777:Ripor1 UTSW 8 105614990 missense probably damaging 1.00
R4930:Ripor1 UTSW 8 105617182 missense probably damaging 1.00
R5004:Ripor1 UTSW 8 105618820 frame shift probably null
R5569:Ripor1 UTSW 8 105617515 missense probably damaging 0.98
R5868:Ripor1 UTSW 8 105616004 missense probably damaging 1.00
R7187:Ripor1 UTSW 8 105617874 missense probably benign 0.22
R7311:Ripor1 UTSW 8 105617815 nonsense probably null
R8117:Ripor1 UTSW 8 105617473 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGCCCTTGATGACTATCGTGG -3'
(R):5'- AGACACATGAGGTATGCTCGG -3'

Sequencing Primer
(F):5'- GATGACTATCGTGGTCAGTTCCC -3'
(R):5'- GTATGCTCGGAAAAACACAGCTATTC -3'
Posted On2015-05-14