Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Prr5l'

638997

Institutional Source

Beutler Lab

Gene Symbol

Prr5l

Ensembl Gene

ENSMUSG00000032841

Gene Name

proline rich 5 like

Synonyms

2600010E01Rik, 4833411O04Rik

MMRRC Submission

067853-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101544630-101713372 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 101571630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043845] [ENSMUST00000125985] [ENSMUST00000163762] [ENSMUST00000171088]

AlphaFold

A2AVJ5

Predicted Effect

probably null
Transcript: ENSMUST00000043845

SMART Domains

Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	47	152	5.4e-15	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125985

SMART Domains

Protein: ENSMUSP00000122996
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	128	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141814

SMART Domains

Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
low complexity region	56	69	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163762

SMART Domains

Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	177	2.8e-36	PFAM
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171088

SMART Domains

Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	177	2.8e-36	PFAM
low complexity region	323	332	N/A	INTRINSIC

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Cd5	T	A	19: 10,697,609 (GRCm39)	R457W	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cops2	T	C	2: 125,701,028 (GRCm39)		probably benign	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or52e8b	C	T	7: 104,673,885 (GRCm39)	G97R	probably benign	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tgm6	G	A	2: 129,979,358 (GRCm39)	V163I	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vangl2	C	A	1: 171,837,513 (GRCm39)	V99F	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	Het

Other mutations in Prr5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Prr5l	APN	2	101,602,465 (GRCm39)	splice site	probably benign
IGL02946:Prr5l	APN	2	101,602,529 (GRCm39)	splice site	probably null
PIT4618001:Prr5l	UTSW	2	101,588,875 (GRCm39)	missense	probably damaging	0.99
R0652:Prr5l	UTSW	2	101,602,635 (GRCm39)	missense	possibly damaging	0.94
R0722:Prr5l	UTSW	2	101,547,819 (GRCm39)	splice site	probably benign
R0882:Prr5l	UTSW	2	101,588,886 (GRCm39)	missense	possibly damaging	0.81
R1962:Prr5l	UTSW	2	101,588,854 (GRCm39)	critical splice donor site	probably null
R3013:Prr5l	UTSW	2	101,565,050 (GRCm39)	missense	probably damaging	1.00
R4564:Prr5l	UTSW	2	101,577,094 (GRCm39)	missense	probably damaging	1.00
R4604:Prr5l	UTSW	2	101,559,793 (GRCm39)	missense	probably benign	0.44
R4902:Prr5l	UTSW	2	101,628,027 (GRCm39)	utr 5 prime	probably benign
R5338:Prr5l	UTSW	2	101,547,452 (GRCm39)	missense	probably benign	0.00
R6279:Prr5l	UTSW	2	101,547,765 (GRCm39)	nonsense	probably null
R6792:Prr5l	UTSW	2	101,547,769 (GRCm39)	missense	probably benign	0.00
R7214:Prr5l	UTSW	2	101,559,777 (GRCm39)	missense	probably benign
R7299:Prr5l	UTSW	2	101,547,631 (GRCm39)	missense	probably damaging	1.00
R7301:Prr5l	UTSW	2	101,547,631 (GRCm39)	missense	probably damaging	1.00
R7672:Prr5l	UTSW	2	101,565,083 (GRCm39)	missense	probably damaging	1.00
R7702:Prr5l	UTSW	2	101,547,442 (GRCm39)	missense	probably benign	0.04
R8086:Prr5l	UTSW	2	101,571,709 (GRCm39)	missense	probably benign	0.00
R8116:Prr5l	UTSW	2	101,627,919 (GRCm39)	frame shift	probably null
R8470:Prr5l	UTSW	2	101,547,430 (GRCm39)	missense	probably benign	0.06
R8753:Prr5l	UTSW	2	101,571,723 (GRCm39)	missense	probably damaging	1.00
RF028:Prr5l	UTSW	2	101,627,918 (GRCm39)	frame shift	probably null
RF033:Prr5l	UTSW	2	101,627,918 (GRCm39)	frame shift	probably null
RF039:Prr5l	UTSW	2	101,627,918 (GRCm39)	frame shift	probably null
X0018:Prr5l	UTSW	2	101,547,604 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAACAAGAACCTACAAATTGCTGG -3'
(R):5'- GTGTACTAGACTTTACATTTGAGGCG -3'

Sequencing Primer
(F):5'- CATAGACACGGAATGCTC -3'
(R):5'- GGAGCTGCCCTGTGGTCTG -3'

Posted On

2020-07-28