Mutagenetix > Incidental Mutation

Incidental Mutation 'R8746:Rhpn1'

663571

Institutional Source

Beutler Lab

Gene Symbol

Rhpn1

Ensembl Gene

ENSMUSG00000022580

Gene Name

rhophilin, Rho GTPase binding protein 1

Synonyms

Grbp, Rhophilin

MMRRC Submission

068590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75576097-75586268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75585425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 593 (V593M)

Ref Sequence

ENSEMBL: ENSMUSP00000113042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023244] [ENSMUST00000121137] [ENSMUST00000149407]

AlphaFold

Q61085

Predicted Effect

probably damaging
Transcript: ENSMUST00000023244
AA Change: V575M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023244
Gene: ENSMUSG00000022580
AA Change: V575M

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	498	4.31e-147	SMART
PDZ	508	578	9.27e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121137
AA Change: V593M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113042
Gene: ENSMUSG00000022580
AA Change: V593M

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	516	1.64e-161	SMART
PDZ	526	596	9.27e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149407

SMART Domains

Protein: ENSMUSP00000116837
Gene: ENSMUSG00000022580

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	449	7.17e-103	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,451,529 (GRCm39)	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,271,256 (GRCm39)	E100A	possibly damaging	Het
Aatf	A	T	11: 84,402,338 (GRCm39)	I116N	probably benign	Het
Abcb11	G	T	2: 69,087,754 (GRCm39)		probably benign	Het
Adarb2	G	T	13: 8,802,680 (GRCm39)	A652S	probably benign	Het
Adgb	C	T	10: 10,281,028 (GRCm39)		probably null	Het
Ankrd34a	C	T	3: 96,504,791 (GRCm39)		probably benign	Het
Ano2	A	G	6: 125,840,513 (GRCm39)	I395V	probably benign	Het
Cadm2	C	A	16: 66,581,696 (GRCm39)	R203L	probably damaging	Het
Ccr2	T	C	9: 123,906,448 (GRCm39)	F243L	probably benign	Het
Ccr4	A	G	9: 114,321,918 (GRCm39)	V49A	probably damaging	Het
Cemip2	G	A	19: 21,803,465 (GRCm39)	G833R	probably damaging	Het
Corin	T	C	5: 72,592,695 (GRCm39)	D234G	probably benign	Het
Drd5	G	T	5: 38,477,433 (GRCm39)	R142I	probably benign	Het
Dsg1b	A	G	18: 20,529,056 (GRCm39)	D264G	probably damaging	Het
Ezh2	T	C	6: 47,553,534 (GRCm39)	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,269,370 (GRCm39)	T981S	probably benign	Het
Gcg	T	A	2: 62,305,325 (GRCm39)	K180N	probably damaging	Het
Gm10840	G	A	11: 106,051,742 (GRCm39)	E23K	unknown	Het
Gm2696	T	G	10: 77,651,037 (GRCm39)	C174W	unknown	Het
Grin2b	T	C	6: 135,899,985 (GRCm39)	I299V	probably benign	Het
Hepacam	T	A	9: 37,293,030 (GRCm39)	V207E	probably damaging	Het
Igf1r	T	A	7: 67,864,745 (GRCm39)	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,806,384 (GRCm39)	S96P	possibly damaging	Het
Marf1	T	A	16: 13,935,168 (GRCm39)	E1533D	probably benign	Het
Megf9	A	G	4: 70,353,511 (GRCm39)	C432R	probably damaging	Het
Mpp2	A	G	11: 101,954,040 (GRCm39)	Y236H	probably damaging	Het
Neb	T	C	2: 52,172,613 (GRCm39)	I1565V	probably damaging	Het
Or2y1f	A	G	11: 49,183,993 (GRCm39)		probably benign	Het
Or56b2j	A	T	7: 104,353,067 (GRCm39)	I98F	probably damaging	Het
Or5ac21	T	A	16: 59,123,973 (GRCm39)	F152L	probably benign	Het
Or5b3	A	G	19: 13,388,092 (GRCm39)	D53G	probably benign	Het
Or5g24-ps1	T	A	2: 85,464,221 (GRCm39)	Y149*	probably null	Het
Or6f1	C	T	7: 85,970,437 (GRCm39)	C241Y	probably damaging	Het
Or9k2b	T	C	10: 130,016,086 (GRCm39)	Y221C	probably damaging	Het
Patj	T	A	4: 98,394,067 (GRCm39)		probably benign	Het
Pknox1	A	T	17: 31,809,624 (GRCm39)	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,907,777 (GRCm39)	T953K		Het
Plekhn1	C	A	4: 156,316,682 (GRCm39)	R333L	probably damaging	Het
Plk5	T	A	10: 80,194,610 (GRCm39)	V111D	probably benign	Het
Polr1b	A	G	2: 128,954,597 (GRCm39)	I398M	possibly damaging	Het
Ranbp3	T	C	17: 57,009,826 (GRCm39)	V137A	probably benign	Het
Rc3h1	T	A	1: 160,757,744 (GRCm39)	F21I	probably damaging	Het
Rgs8	T	C	1: 153,547,537 (GRCm39)	S56P	probably damaging	Het
Sdad1	A	G	5: 92,437,784 (GRCm39)	S589P	probably benign	Het
Skp1	A	G	11: 52,136,843 (GRCm39)	K163R	probably damaging	Het
Slf2	A	G	19: 44,962,063 (GRCm39)	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,654,572 (GRCm39)		probably benign	Het
Tmem144	C	T	3: 79,732,655 (GRCm39)	V208M	probably damaging	Het
Tomm34	A	T	2: 163,902,884 (GRCm39)	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120 (GRCm39)	V2316D	unknown	Het
Yme1l1	T	A	2: 23,052,543 (GRCm39)	S66T	probably benign	Het
Zfc3h1	T	C	10: 115,243,885 (GRCm39)	S739P	probably damaging	Het
Zscan25	T	A	5: 145,224,157 (GRCm39)	V209E	possibly damaging	Het

Other mutations in Rhpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Rhpn1	APN	15	75,583,735 (GRCm39)	missense	probably damaging	0.99
IGL02211:Rhpn1	APN	15	75,582,905 (GRCm39)	missense	possibly damaging	0.94
R0049:Rhpn1	UTSW	15	75,581,088 (GRCm39)	missense	possibly damaging	0.73
R0049:Rhpn1	UTSW	15	75,581,088 (GRCm39)	missense	possibly damaging	0.73
R0240:Rhpn1	UTSW	15	75,585,971 (GRCm39)	missense	probably benign	0.05
R0240:Rhpn1	UTSW	15	75,585,971 (GRCm39)	missense	probably benign	0.05
R0324:Rhpn1	UTSW	15	75,583,437 (GRCm39)	missense	probably damaging	0.99
R0426:Rhpn1	UTSW	15	75,583,721 (GRCm39)	missense	possibly damaging	0.71
R0453:Rhpn1	UTSW	15	75,585,428 (GRCm39)	missense	possibly damaging	0.93
R0893:Rhpn1	UTSW	15	75,583,503 (GRCm39)	missense	probably damaging	1.00
R1051:Rhpn1	UTSW	15	75,584,241 (GRCm39)	missense	probably damaging	0.99
R1571:Rhpn1	UTSW	15	75,585,967 (GRCm39)	missense	possibly damaging	0.93
R1906:Rhpn1	UTSW	15	75,583,673 (GRCm39)	missense	probably benign	0.02
R1907:Rhpn1	UTSW	15	75,583,673 (GRCm39)	missense	probably benign	0.02
R2110:Rhpn1	UTSW	15	75,585,083 (GRCm39)	missense	probably damaging	1.00
R2153:Rhpn1	UTSW	15	75,576,243 (GRCm39)	start codon destroyed	probably null	0.00
R3943:Rhpn1	UTSW	15	75,583,655 (GRCm39)	missense	probably damaging	0.97
R4030:Rhpn1	UTSW	15	75,582,406 (GRCm39)	missense	probably damaging	1.00
R4552:Rhpn1	UTSW	15	75,585,968 (GRCm39)	missense	probably benign	0.00
R5015:Rhpn1	UTSW	15	75,580,090 (GRCm39)	missense	probably damaging	1.00
R5103:Rhpn1	UTSW	15	75,586,064 (GRCm39)	missense	possibly damaging	0.83
R5121:Rhpn1	UTSW	15	75,581,109 (GRCm39)	missense	probably damaging	1.00
R5337:Rhpn1	UTSW	15	75,580,054 (GRCm39)	missense	probably benign
R7324:Rhpn1	UTSW	15	75,576,246 (GRCm39)	missense	possibly damaging	0.89
R7596:Rhpn1	UTSW	15	75,584,162 (GRCm39)	missense	probably benign	0.00
R7610:Rhpn1	UTSW	15	75,584,245 (GRCm39)	missense	unknown
R7808:Rhpn1	UTSW	15	75,585,299 (GRCm39)	missense	probably benign	0.09
R8103:Rhpn1	UTSW	15	75,581,115 (GRCm39)	missense	probably null	1.00
R8128:Rhpn1	UTSW	15	75,583,032 (GRCm39)	critical splice donor site	probably null
R9275:Rhpn1	UTSW	15	75,585,120 (GRCm39)	missense	possibly damaging	0.91
R9781:Rhpn1	UTSW	15	75,582,543 (GRCm39)	nonsense	probably null
Z1177:Rhpn1	UTSW	15	75,583,451 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTAGAGGACCGCTAGATACTGC -3'
(R):5'- CTTCATCTGGAGTAGGACAGTAGCC -3'

Sequencing Primer
(F):5'- GCTAGATACTGCCACCACCTC -3'
(R):5'- TAGGACAGTAGCCACGCTATG -3'

Posted On

2021-03-08