Incidental Mutation 'IGL02134:Rhpn2'
ID281250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhpn2
Ensembl Gene ENSMUSG00000030494
Gene Namerhophilin, Rho GTPase binding protein 2
SynonymsD7Ertd784e, 1300002E07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #IGL02134
Quality Score
Status
Chromosome7
Chromosomal Location35334170-35392289 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 35371111 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032705] [ENSMUST00000085556]
Predicted Effect probably benign
Transcript: ENSMUST00000032705
SMART Domains Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494

DomainStartEndE-ValueType
Hr1 38 101 2.42e-12 SMART
BRO1 111 513 1.27e-167 SMART
PDZ 524 594 1.73e-9 SMART
low complexity region 623 637 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085556
SMART Domains Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494

DomainStartEndE-ValueType
Hr1 38 101 2.42e-12 SMART
BRO1 111 513 1.27e-167 SMART
PDZ 524 594 1.73e-9 SMART
low complexity region 623 637 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Rhpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Rhpn2 APN 7 35370760 missense probably damaging 1.00
IGL01718:Rhpn2 APN 7 35370754 missense probably benign 0.03
IGL01833:Rhpn2 APN 7 35376171 missense probably benign 0.04
IGL02725:Rhpn2 APN 7 35379606 missense probably damaging 0.99
PIT4382001:Rhpn2 UTSW 7 35390753 critical splice acceptor site probably null
R0433:Rhpn2 UTSW 7 35385474 missense probably benign 0.00
R1659:Rhpn2 UTSW 7 35377041 missense probably damaging 1.00
R1836:Rhpn2 UTSW 7 35372388 missense probably benign 0.30
R2110:Rhpn2 UTSW 7 35377008 missense probably benign 0.01
R2567:Rhpn2 UTSW 7 35381532 critical splice donor site probably null
R4302:Rhpn2 UTSW 7 35390845 missense probably benign 0.01
R4717:Rhpn2 UTSW 7 35334350 missense possibly damaging 0.87
R4832:Rhpn2 UTSW 7 35376349 critical splice donor site probably null
R4890:Rhpn2 UTSW 7 35390803 missense probably benign 0.01
R5119:Rhpn2 UTSW 7 35371124 missense probably damaging 1.00
R5285:Rhpn2 UTSW 7 35381565 intron probably benign
R5563:Rhpn2 UTSW 7 35371227 missense probably damaging 0.98
R5578:Rhpn2 UTSW 7 35370710 missense probably damaging 1.00
R6061:Rhpn2 UTSW 7 35376211 missense possibly damaging 0.82
R6405:Rhpn2 UTSW 7 35372439 missense probably benign 0.02
R6700:Rhpn2 UTSW 7 35376169 missense possibly damaging 0.91
R6776:Rhpn2 UTSW 7 35383769 splice site probably null
R7326:Rhpn2 UTSW 7 35385463 missense probably benign 0.00
R7342:Rhpn2 UTSW 7 35334346 missense probably damaging 1.00
R7455:Rhpn2 UTSW 7 35371244 splice site probably null
R7849:Rhpn2 UTSW 7 35381487 missense probably benign 0.11
Z1177:Rhpn2 UTSW 7 35334373 missense probably benign
Z1177:Rhpn2 UTSW 7 35334374 missense probably benign 0.00
Posted On2015-04-16