Mutagenetix > Incidental Mutation

Incidental Mutation 'R8750:Rhpn2'

663773

Institutional Source

Beutler Lab

Gene Symbol

Rhpn2

Ensembl Gene

ENSMUSG00000030494

Gene Name

rhophilin, Rho GTPase binding protein 2

Synonyms

D7Ertd784e, 1300002E07Rik

MMRRC Submission

068593-MU

Accession Numbers

Essential gene?

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

Stock #

R8750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35033605-35091712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35075680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 286 (Q286K)

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

probably benign
Transcript: ENSMUST00000032705
AA Change: Q286K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: Q286K

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

probably benign
Transcript: ENSMUST00000085556
AA Change: Q286K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: Q286K

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,247 (GRCm39)	Q172*	probably null	Het
Ankib1	A	G	5: 3,752,890 (GRCm39)		probably null	Het
Avpr1b	C	T	1: 131,527,674 (GRCm39)	R66C	probably damaging	Het
Bbs7	A	T	3: 36,661,744 (GRCm39)	C152S	possibly damaging	Het
Cacna1a	C	A	8: 85,285,784 (GRCm39)	R810S	probably damaging	Het
Ccdc17	G	A	4: 116,457,129 (GRCm39)	A538T	possibly damaging	Het
Cd93	T	C	2: 148,285,080 (GRCm39)	M89V	probably benign	Het
Clec11a	G	T	7: 43,955,323 (GRCm39)	D157E	probably benign	Het
Crtam	A	C	9: 40,895,641 (GRCm39)	D228E	probably benign	Het
Cyp2a4	A	G	7: 26,012,209 (GRCm39)	I331V	probably benign	Het
Cysltr2	T	C	14: 73,267,078 (GRCm39)	I211V	probably benign	Het
Dcaf13	T	C	15: 38,982,836 (GRCm39)	S123P	probably damaging	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dnah1	A	T	14: 31,026,924 (GRCm39)	L700Q	probably benign	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dpyd	C	T	3: 118,935,585 (GRCm39)	S670L	probably damaging	Het
Dsg2	A	T	18: 20,708,069 (GRCm39)	I57F	possibly damaging	Het
Dzip3	A	C	16: 48,801,338 (GRCm39)	I62S	probably damaging	Het
Ern1	A	T	11: 106,312,776 (GRCm39)	S202T	probably damaging	Het
Foxm1	T	A	6: 128,350,206 (GRCm39)	C517*	probably null	Het
Galnt16	G	A	12: 80,644,879 (GRCm39)	V501I	probably benign	Het
Gmip	A	T	8: 70,273,134 (GRCm39)	R840S	probably benign	Het
Gna14	A	C	19: 16,585,458 (GRCm39)	I279L		Het
Irak2	T	C	6: 113,663,783 (GRCm39)	M444T	probably benign	Het
Itfg2	T	C	6: 128,389,755 (GRCm39)		probably null	Het
Kif5a	T	A	10: 127,083,909 (GRCm39)	H94L	probably damaging	Het
Kmt2e	A	G	5: 23,698,215 (GRCm39)	T636A	probably benign	Het
Krba1	T	C	6: 48,382,212 (GRCm39)	S152P	probably damaging	Het
Mad1l1	T	A	5: 140,300,822 (GRCm39)	M25L	probably benign	Het
Map7d1	T	C	4: 126,132,315 (GRCm39)	N286D	probably benign	Het
Mfrp	A	G	9: 44,014,802 (GRCm39)	K280E	probably benign	Het
Mlh3	G	T	12: 85,308,488 (GRCm39)	L1100I	probably damaging	Het
Mrgprx2	T	C	7: 48,131,778 (GRCm39)	I347V	probably benign	Het
Mtnr1b	A	T	9: 15,785,724 (GRCm39)	C11*	probably null	Het
Mx1	T	C	16: 97,252,917 (GRCm39)	E401G	probably damaging	Het
Mypn	T	C	10: 63,003,036 (GRCm39)	D367G	probably benign	Het
Nherf2	T	C	17: 24,861,233 (GRCm39)	I176V	probably damaging	Het
Or52a33	T	A	7: 103,289,059 (GRCm39)	D96V	probably damaging	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8s8	T	G	15: 98,354,929 (GRCm39)	I246R	probably damaging	Het
Or9g19	T	A	2: 85,600,307 (GRCm39)	L54H	probably damaging	Het
Plcb1	T	G	2: 135,177,369 (GRCm39)	M567R	probably damaging	Het
Plekhd1	A	T	12: 80,752,861 (GRCm39)	D109V	probably damaging	Het
Polr2e	A	G	10: 79,875,424 (GRCm39)	I17T	probably benign	Het
Pot1b	T	C	17: 55,973,537 (GRCm39)	D421G	probably benign	Het
Prkar1b	A	T	5: 139,036,451 (GRCm39)	W224R	probably damaging	Het
Psmd1	C	A	1: 86,016,585 (GRCm39)	R490S	probably damaging	Het
Pwp2	A	G	10: 78,013,659 (GRCm39)	W521R	probably damaging	Het
Rnf103	T	A	6: 71,486,602 (GRCm39)	M411K	probably benign	Het
Scpep1	A	C	11: 88,835,298 (GRCm39)	V125G	probably damaging	Het
Serpinb9c	C	T	13: 33,335,793 (GRCm39)	V248M	probably null	Het
Snx15	T	A	19: 6,170,593 (GRCm39)	N282I	probably benign	Het
Spaca3	A	T	11: 80,758,514 (GRCm39)	D159V	probably benign	Het
Srrm4	A	G	5: 116,605,567 (GRCm39)	V230A	unknown	Het
Ssu2	T	A	6: 112,359,312 (GRCm39)	I103F	possibly damaging	Het
Strip2	T	A	6: 29,931,815 (GRCm39)	F453I	probably damaging	Het
Tac2	C	T	10: 127,564,319 (GRCm39)	P72L	possibly damaging	Het
Tiparp	T	G	3: 65,460,125 (GRCm39)	S473R	probably damaging	Het
Tmem135	C	T	7: 88,956,456 (GRCm39)	R53Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,406 (GRCm39)	F109I	probably damaging	Het
Tmem245	A	T	4: 56,886,141 (GRCm39)	I825N	probably damaging	Het
Tmem63c	G	T	12: 87,103,306 (GRCm39)	V27F	probably damaging	Het
Tshz1	T	C	18: 84,033,162 (GRCm39)	I415M	probably damaging	Het
Tut4	C	G	4: 108,407,940 (GRCm39)	A1403G	probably damaging	Het
Wfdc2	T	A	2: 164,407,818 (GRCm39)	N162K	probably damaging	Het
Zeb2	T	A	2: 44,887,939 (GRCm39)	I373F	probably damaging	Het
Zfp27	T	C	7: 29,594,804 (GRCm39)	N387S	possibly damaging	Het
Zfp760	A	T	17: 21,941,356 (GRCm39)	H177L	possibly damaging	Het
Zg16	A	G	7: 126,649,518 (GRCm39)	S148P	possibly damaging	Het
Zic2	A	G	14: 122,714,129 (GRCm39)	N348D	probably benign	Het
Zswim4	A	T	8: 84,939,313 (GRCm39)	D856E	possibly damaging	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
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
R9308:Rhpn2	UTSW	7	35,033,805 (GRCm39)	missense	possibly damaging	0.87
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'- TTTCTGTGCATAGCCAGGGG -3'
(R):5'- AATAAACATAGGCCGGCCGC -3'

Sequencing Primer
(F):5'- GGCTCCTGTAAGCTAAGCACTC -3'
(R):5'- GAAATCTGATGCCCACTTCTGGAG -3'

Posted On

2021-03-08