Mutagenetix > Incidental Mutation

Incidental Mutation 'R6394:Prr5'

515981

Institutional Source

Beutler Lab

Gene Symbol

Prr5

Ensembl Gene

ENSMUSG00000036106

Gene Name

proline rich 5 (renal)

Synonyms

Protor-1, C030017C09Rik

MMRRC Submission

044543-MU

Accession Numbers

Essential gene?

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

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84553821-84587874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84583925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 175 (V175E)

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: V184E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: V184E

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: V175E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: V175E

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,760,029 (GRCm39)		probably null	Het
Alpi	T	A	1: 87,028,428 (GRCm39)	Y154F	possibly damaging	Het
Als2	A	T	1: 59,206,356 (GRCm39)	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,361,213 (GRCm39)	V60M	probably damaging	Het
Atp10b	A	G	11: 43,116,464 (GRCm39)	Y937C	probably damaging	Het
Brd4	C	A	17: 32,443,121 (GRCm39)	E167*	probably null	Het
Cacna1h	G	A	17: 25,606,455 (GRCm39)	T1048I	probably benign	Het
Ccdc113	A	G	8: 96,283,820 (GRCm39)	D298G	probably benign	Het
Cfap100	T	A	6: 90,394,605 (GRCm39)	N74I	possibly damaging	Het
Chd8	A	T	14: 52,440,042 (GRCm39)	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,284,524 (GRCm39)	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,290,172 (GRCm39)	T843A	possibly damaging	Het
Clcn3	C	T	8: 61,394,325 (GRCm39)	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,007,132 (GRCm39)	N355K	probably benign	Het
Dnah6	A	T	6: 73,132,401 (GRCm39)	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331 (GRCm39)	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,819,839 (GRCm39)	E317G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evc2	C	A	5: 37,535,619 (GRCm39)	D431E	probably damaging	Het
Gcm2	T	G	13: 41,263,373 (GRCm39)	T20P	probably damaging	Het
Gdf9	A	G	11: 53,327,524 (GRCm39)	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,523,134 (GRCm39)		probably benign	Het
Gpalpp1	A	T	14: 76,344,852 (GRCm39)	S44T	possibly damaging	Het
Grip2	T	C	6: 91,764,182 (GRCm39)	Y134C	probably damaging	Het
Hephl1	A	G	9: 14,985,397 (GRCm39)	F753S	probably benign	Het
Herc1	A	G	9: 66,302,341 (GRCm39)	T727A	probably damaging	Het
Herc2	A	G	7: 55,865,729 (GRCm39)	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Itga11	T	A	9: 62,642,548 (GRCm39)		probably null	Het
Jrkl	A	C	9: 13,245,495 (GRCm39)	Y55*	probably null	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,805,236 (GRCm39)	V303A	probably damaging	Het
Klhl29	A	T	12: 5,144,830 (GRCm39)	C423*	probably null	Het
Klhl29	T	C	12: 5,187,720 (GRCm39)	S215G	probably benign	Het
Lamp5	A	G	2: 135,902,929 (GRCm39)	D216G	possibly damaging	Het
Leo1	T	A	9: 75,352,752 (GRCm39)	D98E	probably benign	Het
Map3k3	T	C	11: 106,039,709 (GRCm39)	V283A	probably benign	Het
Med12l	A	G	3: 59,142,508 (GRCm39)	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316 (GRCm39)	D202Y	probably benign	Het
Muc21	A	T	17: 35,931,058 (GRCm39)		probably benign	Het
Onecut3	A	G	10: 80,331,847 (GRCm39)	I336V	probably damaging	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or10g9	T	C	9: 39,912,001 (GRCm39)	Q174R	probably benign	Het
Or10h1	G	A	17: 33,418,487 (GRCm39)	G155D	probably damaging	Het
Or4c11b	C	T	2: 88,625,296 (GRCm39)	T190I	probably benign	Het
Or56b1	T	A	7: 104,284,909 (GRCm39)	N9K	possibly damaging	Het
Or56b1	T	C	7: 104,285,234 (GRCm39)	S118P	possibly damaging	Het
Or5p64	C	T	7: 107,854,970 (GRCm39)	R125H	possibly damaging	Het
Or6c69	G	T	10: 129,747,789 (GRCm39)	D119E	probably damaging	Het
Osbpl6	T	C	2: 76,386,298 (GRCm39)	V207A	probably benign	Het
Pde3a	A	T	6: 141,433,237 (GRCm39)	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phyh	A	G	2: 4,940,814 (GRCm39)	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,750,030 (GRCm39)	N92K	probably benign	Het
Pole3	T	C	4: 62,442,263 (GRCm39)		probably benign	Het
Ppm1d	T	C	11: 85,230,498 (GRCm39)	V372A	probably benign	Het
Prpf40a	A	T	2: 53,034,890 (GRCm39)	I766N	probably damaging	Het
Prss59	A	T	6: 40,898,726 (GRCm39)	L174*	probably null	Het
Ptprq	T	A	10: 107,478,804 (GRCm39)	K1280*	probably null	Het
Rbp2	T	A	9: 98,389,873 (GRCm39)	V95E	possibly damaging	Het
Rictor	T	C	15: 6,798,790 (GRCm39)	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn10a	T	A	9: 119,490,386 (GRCm39)	I519F	probably benign	Het
Setd5	T	G	6: 113,092,505 (GRCm39)	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,786,176 (GRCm39)	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,276,017 (GRCm39)	G243E	probably damaging	Het
Smg9	T	C	7: 24,121,732 (GRCm39)	Y498H	probably damaging	Het
Sox5	T	C	6: 143,987,039 (GRCm39)	D175G	probably damaging	Het
Stard7	A	G	2: 127,126,161 (GRCm39)	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,774,975 (GRCm39)	Y59*	probably null	Het
Supt6	G	A	11: 78,121,891 (GRCm39)	R254C	probably damaging	Het
Syne2	C	T	12: 76,037,269 (GRCm39)	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,732,039 (GRCm39)	I116N	probably damaging	Het
Trim9	T	A	12: 70,301,987 (GRCm39)	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 9,774,253 (GRCm39)	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,687,943 (GRCm39)	E126*	probably null	Het
Zswim9	A	T	7: 12,994,889 (GRCm39)	S422R	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
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
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

PCR Primer
(F):5'- TAAGAGCAATGTGGCCAGC -3'
(R):5'- TGTACCAAGTGCCTGGATCAG -3'

Sequencing Primer
(F):5'- AATGTGGCCAGCTCGTC -3'
(R):5'- TACCAAGTGCCTGGATCAGTTGTG -3'

Posted On

2018-05-04