Incidental Mutation 'R6776:Rhpn2'
ID531291
Institutional Source Beutler Lab
Gene Symbol Rhpn2
Ensembl Gene ENSMUSG00000030494
Gene Namerhophilin, Rho GTPase binding protein 2
SynonymsD7Ertd784e, 1300002E07Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.368) question?
Stock #R6776 (G1)
Quality Score125.008
Status Not validated
Chromosome7
Chromosomal Location35334170-35392289 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 35383769 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032705] [ENSMUST00000085556]
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500015O10Rik C A 1: 43,742,391 N144K probably damaging Het
2900011O08Rik T A 16: 13,986,806 S6T possibly damaging Het
Abhd13 A G 8: 9,988,075 H224R probably benign Het
Anapc10 T C 8: 79,719,745 F68S probably damaging Het
Arid2 A G 15: 96,370,949 N981S probably benign Het
BC055324 T C 1: 163,976,749 I338M probably damaging Het
Cfap73 A G 5: 120,634,211 F9L probably damaging Het
Chd3 A C 11: 69,354,470 L1141V probably damaging Het
Daam1 C T 12: 71,989,808 L1052F possibly damaging Het
Dmxl1 C T 18: 49,893,974 R2050C probably damaging Het
Dpp10 G A 1: 123,367,656 Q552* probably null Het
Dysf A G 6: 84,064,894 D160G possibly damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,075,965 probably benign Het
Ftcd T C 10: 76,589,239 I518T probably benign Het
Gapdh A G 6: 125,162,273 S248P probably damaging Het
Gm5592 C G 7: 41,289,729 P812A probably damaging Het
Grik2 G A 10: 49,355,989 L482F probably damaging Het
Gzmg C T 14: 56,156,831 G202D probably damaging Het
Hectd4 G A 5: 121,353,511 A3671T possibly damaging Het
Hexa G T 9: 59,558,072 W203C probably damaging Het
Igdcc4 A T 9: 65,135,418 T1217S probably benign Het
Ipo7 A G 7: 110,047,065 D557G probably damaging Het
Irx3 T A 8: 91,799,835 T414S probably benign Het
Jakmip1 G A 5: 37,187,154 E1313K probably damaging Het
Kbtbd12 T C 6: 88,618,266 D194G probably damaging Het
Klk6 T C 7: 43,826,874 L46P probably damaging Het
Krt86 T C 15: 101,476,936 I329T probably benign Het
Mroh5 A G 15: 73,789,968 probably null Het
Mtrf1 T C 14: 79,413,081 V323A probably damaging Het
Oas3 A T 5: 120,758,874 I894N probably damaging Het
Oplah C T 15: 76,300,853 V887I possibly damaging Het
Pag1 T C 3: 9,699,788 T102A probably benign Het
Pcnx C T 12: 81,962,722 A1181V possibly damaging Het
Pkdrej G T 15: 85,817,309 Y1475* probably null Het
Pla2g5 A G 4: 138,800,653 S101P probably benign Het
Plekha4 C A 7: 45,534,817 A76E probably damaging Het
Plk2 T C 13: 110,399,791 I592T probably benign Het
Ppp2r3a A T 9: 101,212,862 H87Q probably benign Het
Ppp2r3c T A 12: 55,298,467 R79* probably null Het
Prpf40b C T 15: 99,314,903 R627W probably damaging Het
Prrt4 G T 6: 29,176,552 T258K possibly damaging Het
Slc11a1 T A 1: 74,384,085 I365N probably damaging Het
Slc7a7 C T 14: 54,374,651 G265D possibly damaging Het
Thsd7a T A 6: 12,555,637 T83S possibly damaging Het
Tln2 A G 9: 67,262,905 S1989P probably damaging Het
Tnfaip3 T G 10: 19,005,576 T321P probably benign Het
Tnrc6b C T 15: 80,924,119 P1623L possibly damaging Het
Trpa1 T C 1: 14,912,377 N85S probably benign Het
Trrap C T 5: 144,851,256 R3544* probably null Het
Ttf2 A T 3: 100,952,553 V695E probably benign Het
Ttll4 A G 1: 74,681,353 E509G probably damaging Het
Vdr T C 15: 97,869,828 I94V probably damaging Het
Wdfy3 G T 5: 101,884,045 Q2304K possibly damaging Het
Zfp663 T C 2: 165,359,015 Y33C probably damaging 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
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
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
R7932: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
Predicted Primers PCR Primer
(F):5'- AGAGAGTCTGCTTTGGTGAC -3'
(R):5'- TGTGTGTCACAGGAAGTCATTC -3'

Sequencing Primer
(F):5'- TGACCACTTTGGGGTCAAAC -3'
(R):5'- CCCCTTGGCTTAAACACA -3'
Posted On2018-08-29