Mutagenetix > Incidental Mutation

Incidental Mutation 'R9308:Rhpn2'

705334

Institutional Source

Beutler Lab

Gene Symbol

Rhpn2

Ensembl Gene

ENSMUSG00000030494

Gene Name

rhophilin, Rho GTPase binding protein 2

Synonyms

D7Ertd784e, 1300002E07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R9308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35033605-35091712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35033805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 13 (L13P)

Ref Sequence

ENSEMBL: ENSMUSP00000032705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032705] [ENSMUST00000085556]

AlphaFold

Q8BWR8

PDB Structure

Solution structure of the PDZ domain of mouse Rhophilin-2 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032705
AA Change: L13P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: L13P

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000085556
AA Change: L13P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: L13P

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,220,667 (GRCm39)	E389*	probably null	Het
2700049A03Rik	T	C	12: 71,231,233 (GRCm39)	V997A	probably benign	Het
9930012K11Rik	A	G	14: 70,393,863 (GRCm39)		probably null	Het
Acss3	C	G	10: 106,959,282 (GRCm39)	G55R	possibly damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Acy3	C	T	19: 4,038,451 (GRCm39)	R193W	probably damaging	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adamts9	T	C	6: 92,857,875 (GRCm39)	D833G	probably benign	Het
Apoa2	A	G	1: 171,053,300 (GRCm39)	S40G	probably benign	Het
Arhgap21	A	T	2: 20,854,061 (GRCm39)	M1777K	probably damaging	Het
BC004004	A	G	17: 29,513,089 (GRCm39)	E171G	probably benign	Het
Cblb	A	G	16: 52,009,374 (GRCm39)		probably null	Het
Cdk5rap2	T	C	4: 70,328,504 (GRCm39)	M1V	probably null	Het
Clca4a	T	G	3: 144,676,183 (GRCm39)	E117A	probably damaging	Het
Cps1	T	C	1: 67,200,118 (GRCm39)		probably null	Het
Crygd	T	C	1: 65,101,220 (GRCm39)	N125S	probably benign	Het
Csf1	T	A	3: 107,655,585 (GRCm39)	H482L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Dgkg	C	A	16: 22,429,528 (GRCm39)		probably null	Het
Dnhd1	T	C	7: 105,353,484 (GRCm39)	V2879A	probably damaging	Het
Dock6	A	T	9: 21,728,744 (GRCm39)	C1307*	probably null	Het
Exoc1	T	A	5: 76,706,968 (GRCm39)	M505K	probably benign	Het
Fam131a	A	G	16: 20,520,582 (GRCm39)	D345G	probably damaging	Het
Fbxw17	G	T	13: 50,572,004 (GRCm39)	R24L	probably benign	Het
Gmcl1	A	C	6: 86,691,239 (GRCm39)	I252R	possibly damaging	Het
Gpr150	G	A	13: 76,203,701 (GRCm39)	R415C	probably damaging	Het
Gtf3c4	G	A	2: 28,724,982 (GRCm39)	S250L	probably damaging	Het
Irs3	G	A	5: 137,642,343 (GRCm39)	A365V	possibly damaging	Het
Jph4	C	A	14: 55,346,981 (GRCm39)	G522V	probably damaging	Het
Kcnn1	C	T	8: 71,305,434 (GRCm39)	G302R	probably damaging	Het
Ksr1	A	T	11: 78,918,291 (GRCm39)	L621H	probably damaging	Het
Lrrn3	T	C	12: 41,503,945 (GRCm39)	E124G	probably damaging	Het
Map3k6	T	C	4: 132,970,722 (GRCm39)	L203P	probably damaging	Het
Mapk15	T	A	15: 75,865,714 (GRCm39)	C2*	probably null	Het
Mga	T	A	2: 119,754,369 (GRCm39)	N959K	possibly damaging	Het
Mrgprb2	A	T	7: 48,202,655 (GRCm39)	N23K	possibly damaging	Het
Myo10	G	T	15: 25,781,862 (GRCm39)	S1119I	probably damaging	Het
Or12e13	G	A	2: 87,663,523 (GRCm39)	G47R	probably damaging	Het
Or14j4	A	G	17: 37,921,246 (GRCm39)	V132A	possibly damaging	Het
Or2a12	G	T	6: 42,904,749 (GRCm39)	V195F	probably benign	Het
Or2a25	A	T	6: 42,888,931 (GRCm39)	H158L	probably damaging	Het
Or6k6	A	G	1: 173,945,501 (GRCm39)	V27A	probably benign	Het
Ovch2	T	C	7: 107,389,560 (GRCm39)	E329G	probably benign	Het
Pkn2	C	T	3: 142,517,724 (GRCm39)	R458Q	probably benign	Het
Pnpt1	T	C	11: 29,097,535 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,556 (GRCm39)	V666A	probably benign	Het
Psmb10	T	C	8: 106,662,662 (GRCm39)	R226G	probably damaging	Het
Ptpn5	A	G	7: 46,740,569 (GRCm39)	V78A	probably benign	Het
Ptprk	A	G	10: 28,450,850 (GRCm39)	M1004V	probably benign	Het
Pygb	T	A	2: 150,668,297 (GRCm39)	S626T	probably benign	Het
Rad21l	T	C	2: 151,491,049 (GRCm39)	T473A	probably benign	Het
Rassf7	T	C	7: 140,798,063 (GRCm39)	S344P	probably benign	Het
Rbbp6	T	C	7: 122,596,221 (GRCm39)	S550P	probably damaging	Het
Rps11	C	T	7: 44,772,614 (GRCm39)	V66I	probably benign	Het
Slc22a18	T	C	7: 143,044,617 (GRCm39)	V190A	probably benign	Het
Smad1	T	C	8: 80,098,899 (GRCm39)		probably benign	Het
Spock2	A	G	10: 59,965,556 (GRCm39)	K327E	possibly damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traj22	T	C	14: 54,434,729 (GRCm39)	I8T		Het
Txnl1	T	C	18: 63,812,446 (GRCm39)	D116G	probably benign	Het
Ush1g	A	T	11: 115,209,534 (GRCm39)	L220Q	probably damaging	Het
Vmn2r10	C	A	5: 109,145,476 (GRCm39)	E544*	probably null	Het
Vmn2r17	T	C	5: 109,600,505 (GRCm39)	V601A	probably damaging	Het
Zc3h13	C	T	14: 75,565,418 (GRCm39)	R844W	unknown	Het
Zfpm1	A	C	8: 123,034,231 (GRCm39)	D55A	probably benign	Het

Other mutations in Rhpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Rhpn2	APN	7	35,070,185 (GRCm39)	missense	probably damaging	1.00
IGL01718:Rhpn2	APN	7	35,070,179 (GRCm39)	missense	probably benign	0.03
IGL01833:Rhpn2	APN	7	35,075,596 (GRCm39)	missense	probably benign	0.04
IGL02134:Rhpn2	APN	7	35,070,536 (GRCm39)	splice site	probably benign
IGL02725:Rhpn2	APN	7	35,079,031 (GRCm39)	missense	probably damaging	0.99
PIT4382001:Rhpn2	UTSW	7	35,090,178 (GRCm39)	critical splice acceptor site	probably null
R0433:Rhpn2	UTSW	7	35,084,899 (GRCm39)	missense	probably benign	0.00
R1659:Rhpn2	UTSW	7	35,076,466 (GRCm39)	missense	probably damaging	1.00
R1836:Rhpn2	UTSW	7	35,071,813 (GRCm39)	missense	probably benign	0.30
R2110:Rhpn2	UTSW	7	35,076,433 (GRCm39)	missense	probably benign	0.01
R2567:Rhpn2	UTSW	7	35,080,957 (GRCm39)	critical splice donor site	probably null
R4302:Rhpn2	UTSW	7	35,090,270 (GRCm39)	missense	probably benign	0.01
R4717:Rhpn2	UTSW	7	35,033,775 (GRCm39)	missense	possibly damaging	0.87
R4832:Rhpn2	UTSW	7	35,075,774 (GRCm39)	critical splice donor site	probably null
R4890:Rhpn2	UTSW	7	35,090,228 (GRCm39)	missense	probably benign	0.01
R5119:Rhpn2	UTSW	7	35,070,549 (GRCm39)	missense	probably damaging	1.00
R5285:Rhpn2	UTSW	7	35,080,990 (GRCm39)	intron	probably benign
R5563:Rhpn2	UTSW	7	35,070,652 (GRCm39)	missense	probably damaging	0.98
R5578:Rhpn2	UTSW	7	35,070,135 (GRCm39)	missense	probably damaging	1.00
R6061:Rhpn2	UTSW	7	35,075,636 (GRCm39)	missense	possibly damaging	0.82
R6405:Rhpn2	UTSW	7	35,071,864 (GRCm39)	missense	probably benign	0.02
R6700:Rhpn2	UTSW	7	35,075,594 (GRCm39)	missense	possibly damaging	0.91
R6776:Rhpn2	UTSW	7	35,083,194 (GRCm39)	splice site	probably null
R7326:Rhpn2	UTSW	7	35,084,888 (GRCm39)	missense	probably benign	0.00
R7342:Rhpn2	UTSW	7	35,033,771 (GRCm39)	missense	probably damaging	1.00
R7455:Rhpn2	UTSW	7	35,070,669 (GRCm39)	splice site	probably null
R7849:Rhpn2	UTSW	7	35,080,912 (GRCm39)	missense	probably benign	0.11
R8750:Rhpn2	UTSW	7	35,075,680 (GRCm39)	missense	probably benign	0.07
R8822:Rhpn2	UTSW	7	35,090,228 (GRCm39)	missense	probably benign	0.01
R8989:Rhpn2	UTSW	7	35,053,446 (GRCm39)	intron	probably benign
R9076:Rhpn2	UTSW	7	35,083,473 (GRCm39)	splice site	probably benign
Z1177:Rhpn2	UTSW	7	35,033,799 (GRCm39)	missense	probably benign	0.00
Z1177:Rhpn2	UTSW	7	35,033,798 (GRCm39)	missense	probably benign
Z1186:Rhpn2	UTSW	7	35,084,826 (GRCm39)	missense	probably benign	0.00
Z1191:Rhpn2	UTSW	7	35,084,826 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCCAGGTCTTGCTAAGAG -3'
(R):5'- GCAATCAATCCCCTTTCGAC -3'

Sequencing Primer
(F):5'- CAGGTCTTGCTAAGAGGGGCG -3'
(R):5'- CCCTTCTCCGCCCTTCG -3'

Posted On

2022-03-25