Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Prr5'

66044

Institutional Source

Beutler Lab

Gene Symbol

Prr5

Ensembl Gene

ENSMUSG00000036106

Gene Name

proline rich 5 (renal)

Synonyms

Protor-1, C030017C09Rik

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0234 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

84553821-84587874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84587322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 357 (F357L)

Ref Sequence

ENSEMBL: ENSMUSP00000127890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065499] [ENSMUST00000171460]

AlphaFold

Q812A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065499
AA Change: F366L

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

SMART Domains

Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: F366L

Domain	Start	End	E-Value	Type
Pfam:HbrB	38	144	6.9e-17	PFAM
low complexity region	333	344	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171460
AA Change: F357L

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

SMART Domains

Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: F357L

Domain	Start	End	E-Value	Type
Pfam:HbrB	27	159	1.3e-36	PFAM
low complexity region	324	335	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.1%
20x: 83.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	probably damaging	Het

Other mutations in Prr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Prr5	APN	15	84,583,856 (GRCm39)	missense	possibly damaging	0.47
IGL01790:Prr5	APN	15	84,651,415 (GRCm39)	missense	possibly damaging	0.87
IGL01950:Prr5	APN	15	84,650,550 (GRCm39)	missense	probably benign	0.33
IGL02156:Prr5	APN	15	84,654,236 (GRCm39)	missense	possibly damaging	0.87
IGL02656:Prr5	APN	15	84,583,337 (GRCm39)	missense	probably damaging	1.00
IGL03102:Prr5	APN	15	84,650,508 (GRCm39)	splice site	probably benign
R0234:Prr5	UTSW	15	84,587,322 (GRCm39)	missense	probably damaging	1.00
R0389:Prr5	UTSW	15	84,587,152 (GRCm39)	missense	probably benign	0.00
R0514:Prr5	UTSW	15	84,586,967 (GRCm39)	missense	probably benign	0.19
R1414:Prr5	UTSW	15	84,583,912 (GRCm39)	nonsense	probably null
R2027:Prr5	UTSW	15	84,585,580 (GRCm39)	missense	probably damaging	0.99
R2230:Prr5	UTSW	15	84,586,981 (GRCm39)	missense	probably benign	0.15
R2231:Prr5	UTSW	15	84,586,981 (GRCm39)	missense	probably benign	0.15
R2232:Prr5	UTSW	15	84,586,981 (GRCm39)	missense	probably benign	0.15
R3003:Prr5	UTSW	15	84,656,031 (GRCm39)	missense	probably damaging	0.99
R3498:Prr5	UTSW	15	84,587,345 (GRCm39)	missense	probably benign	0.12
R3791:Prr5	UTSW	15	84,565,417 (GRCm39)	missense	probably damaging	1.00
R3910:Prr5	UTSW	15	84,587,345 (GRCm39)	missense	probably benign	0.12
R4562:Prr5	UTSW	15	84,626,114 (GRCm39)	missense	probably damaging	0.99
R4866:Prr5	UTSW	15	84,626,105 (GRCm39)	missense	probably damaging	1.00
R4867:Prr5	UTSW	15	84,624,967 (GRCm39)	missense	probably benign	0.17
R5514:Prr5	UTSW	15	84,587,096 (GRCm39)	missense	probably benign	0.01
R5620:Prr5	UTSW	15	84,640,570 (GRCm39)	missense	probably benign	0.09
R5793:Prr5	UTSW	15	84,656,223 (GRCm39)	missense	probably benign
R5905:Prr5	UTSW	15	84,626,178 (GRCm39)	missense	possibly damaging	0.53
R5911:Prr5	UTSW	15	84,585,635 (GRCm39)	nonsense	probably null
R6033:Prr5	UTSW	15	84,626,126 (GRCm39)	missense	probably damaging	1.00
R6033:Prr5	UTSW	15	84,626,126 (GRCm39)	missense	probably damaging	1.00
R6085:Prr5	UTSW	15	84,572,106 (GRCm39)	missense	probably damaging	1.00
R6187:Prr5	UTSW	15	84,577,973 (GRCm39)	missense	probably damaging	1.00
R6394:Prr5	UTSW	15	84,583,925 (GRCm39)	missense	probably damaging	0.99
R6422:Prr5	UTSW	15	84,578,005 (GRCm39)	missense	probably damaging	1.00
R6631:Prr5	UTSW	15	84,586,978 (GRCm39)	missense	probably damaging	0.99
R7212:Prr5	UTSW	15	84,629,993 (GRCm39)	missense	probably null	0.99
R7548:Prr5	UTSW	15	84,641,259 (GRCm39)	missense	possibly damaging	0.76
R7614:Prr5	UTSW	15	84,641,276 (GRCm39)	missense	probably benign	0.44
R7822:Prr5	UTSW	15	84,649,933 (GRCm39)	missense	probably damaging	1.00
R8113:Prr5	UTSW	15	84,577,993 (GRCm39)	missense	probably damaging	1.00
R8268:Prr5	UTSW	15	84,587,192 (GRCm39)	missense	probably benign	0.02
R8328:Prr5	UTSW	15	84,587,387 (GRCm39)	makesense	probably null
R8488:Prr5	UTSW	15	84,578,005 (GRCm39)	missense	probably damaging	1.00
R8874:Prr5	UTSW	15	84,583,916 (GRCm39)	missense	probably damaging	1.00
R9058:Prr5	UTSW	15	84,641,241 (GRCm39)	missense	probably benign	0.00
R9317:Prr5	UTSW	15	84,583,324 (GRCm39)	nonsense	probably null
R9456:Prr5	UTSW	15	84,585,682 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2013-08-19