Incidental Mutation 'PIT4382001:Rhpn2'
ID554683
Institutional Source Beutler Lab
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: 0.378) question?
Stock #PIT4382001 (G1)
Quality Score191.009
Status Not validated
Chromosome7
Chromosomal Location35334170-35392289 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 35390753 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032704] [ENSMUST00000032705] [ENSMUST00000032705] [ENSMUST00000085556] [ENSMUST00000085556] [ENSMUST00000154597]
PDB Structure
Solution structure of the PDZ domain of mouse Rhophilin-2 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000032704
SMART Domains Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493

DomainStartEndE-ValueType
Pfam:HHH_2 162 219 1.3e-13 PFAM
Predicted Effect probably null
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 null
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 null
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
Predicted Effect probably null
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
Predicted Effect probably benign
Transcript: ENSMUST00000154597
SMART Domains Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493

DomainStartEndE-ValueType
Pfam:HHH_2 162 219 2.3e-13 PFAM
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.5%
  • 10x: 84.6%
  • 20x: 72.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik G T 7: 137,376,982 H144N unknown Het
Acsm4 C T 7: 119,698,575 T145M probably damaging Het
Adam10 T C 9: 70,766,081 L498P probably damaging Het
Adgrl2 A G 3: 148,817,298 L430P Het
Alk T C 17: 71,949,921 M648V probably benign Het
Arhgap35 T C 7: 16,563,869 R424G possibly damaging Het
Baiap2l1 T C 5: 144,278,670 K342E possibly damaging Het
Ccdc54 C T 16: 50,590,856 V16M probably damaging Het
Chil3 T G 3: 106,148,659 D366A probably damaging Het
Chuk A G 19: 44,098,607 V151A probably damaging Het
Cpd T G 11: 76,797,788 H886P probably benign Het
Cped1 T A 6: 22,222,450 C736* probably null Het
Creb3l3 T C 10: 81,084,912 E428G probably benign Het
Csad G A 15: 102,188,650 L7F probably benign Het
Dnah1 C T 14: 31,284,455 D2255N probably damaging Het
Dnajb12 T C 10: 59,892,686 Y159H probably damaging Het
Dpysl4 T A 7: 139,089,578 Y57* probably null Het
F2rl1 T G 13: 95,513,646 N243H probably benign Het
Fhl4 T C 10: 85,098,429 K163E possibly damaging Het
Flot2 T C 11: 78,053,367 S46P possibly damaging Het
Fsip2 C A 2: 82,990,852 T5643K possibly damaging Het
Gm853 A T 4: 130,219,161 N147K possibly damaging Het
Gm8765 A T 13: 50,700,971 E215V probably damaging Het
Golga4 T A 9: 118,553,453 Y542N possibly damaging Het
Il17re A G 6: 113,469,077 T426A probably benign Het
Kdm2a T A 19: 4,343,173 M385L probably benign Het
Kdm3b T C 18: 34,809,087 S744P probably damaging Het
Krtap6-3 T A 16: 89,084,160 Y26* probably null Het
Lama2 T C 10: 27,204,905 D974G probably damaging Het
Lipo5 A T 19: 33,465,939 L159Q probably null Het
Mau2 C T 8: 70,030,652 E187K possibly damaging Het
Mrpl9 T C 3: 94,447,829 L236P probably benign Het
Mta1 A G 12: 113,133,250 T564A probably benign Het
Mylk C T 16: 34,875,642 S249L probably damaging Het
Ncor1 G T 11: 62,344,663 T331K probably damaging Het
Nsun3 T A 16: 62,785,865 K15N probably damaging Het
Nsun5 A G 5: 135,371,501 Y132C probably benign Het
Obsl1 T A 1: 75,487,963 T1605S probably benign Het
Olfr1463 T C 19: 13,234,895 I215T probably damaging Het
Olfr519 A G 7: 108,894,102 Y107H probably damaging Het
Olfr566 A G 7: 102,856,602 Y227H probably damaging Het
Olfr574 A T 7: 102,949,449 Y328F probably benign Het
Oraov1 T A 7: 144,916,444 Y37N probably damaging Het
P2rx1 A G 11: 73,009,200 N148D probably benign Het
Pogz T A 3: 94,879,796 S1232T probably damaging Het
Polr3b C A 10: 84,684,185 T655N probably damaging Het
Prss34 T C 17: 25,298,908 probably null Het
Runx1 T A 16: 92,613,760 D256V probably damaging Het
Shc1 C A 3: 89,427,408 Q525K probably benign Het
Slc10a5 T C 3: 10,335,447 D51G probably benign Het
Slc6a3 A T 13: 73,571,523 N557I probably benign Het
Slmap C T 14: 26,533,431 R32H probably damaging Het
Spata31d1c T C 13: 65,036,171 I509T probably benign Het
Srr C A 11: 74,910,308 V138F probably benign Het
Tas2r118 G A 6: 23,969,786 T92I possibly damaging Het
Tcaf2 A T 6: 42,624,366 *920K probably null Het
Tenm2 T A 11: 36,063,902 Y1141F probably damaging Het
Thoc6 T C 17: 23,668,867 N322S probably benign Het
Tlcd2 A G 11: 75,468,591 I70V probably benign Het
Tmem214 A G 5: 30,871,451 D128G possibly damaging Het
Trav13-4-dv7 T C 14: 53,757,781 V64A probably benign Het
Tyro3 T C 2: 119,802,364 W122R probably damaging Het
Ugcg A G 4: 59,213,246 D144G possibly damaging Het
Uimc1 T C 13: 55,031,015 D627G probably benign Het
Utp6 T C 11: 79,962,273 I13V probably benign Het
Vmn2r99 A G 17: 19,394,343 K775R probably damaging Het
Wdfy3 CG C 5: 101,882,961 probably null Het
Zw10 C T 9: 49,071,644 T525I 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
IGL02134:Rhpn2 APN 7 35371111 splice site probably benign
IGL02725:Rhpn2 APN 7 35379606 missense probably damaging 0.99
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 intron probably null
R7326:Rhpn2 UTSW 7 35385463 missense probably benign 0.00
R7342:Rhpn2 UTSW 7 35334346 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTGTGAGCCTCCAACTTTTAG -3'
(R):5'- TGTCAGAGTTGAGCAGGCTG -3'

Sequencing Primer
(F):5'- GTACAACATCTGCTGTGACTCAGG -3'
(R):5'- CTGAAGGGAGTCGGGAGTTTC -3'
Posted On2019-06-07