Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Prr5l'

377854

Institutional Source

Beutler Lab

Gene Symbol

Prr5l

Ensembl Gene

ENSMUSG00000032841

Gene Name

proline rich 5 like

Synonyms

2600010E01Rik, 4833411O04Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

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

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101544630-101713372 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 101628027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043845] [ENSMUST00000124802] [ENSMUST00000125985] [ENSMUST00000144549] [ENSMUST00000154525] [ENSMUST00000163762] [ENSMUST00000171088]

AlphaFold

A2AVJ5

Predicted Effect

probably benign
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: ENSMUST00000124802

SMART Domains

Protein: ENSMUSP00000118502
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	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

noncoding transcript
Transcript: ENSMUST00000140387

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: ENSMUST00000144549

Predicted Effect

probably benign
Transcript: ENSMUST00000154525

SMART Domains

Protein: ENSMUSP00000120192
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	95	2.8e-11	PFAM

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly 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
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
R8297:Prr5l	UTSW	2	101,571,630 (GRCm39)	critical splice donor site	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'- TTTCCGGTGTTCCAGGGAAAG -3'
(R):5'- AGTTCCCCTGATTTGCAGC -3'

Sequencing Primer
(F):5'- AGTTTTCTTGCTGGAGAGAAACTAGC -3'
(R):5'- AGGACCACGACCTTGGATTTC -3'

Posted On

2016-04-15