Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Praf2'

401815

Institutional Source

Beutler Lab

Gene Symbol

Praf2

Ensembl Gene

ENSMUSG00000031149

Gene Name

PRA1 domain family 2

Synonyms

DXImx39e, JM4, Sfc20

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5267 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

7594810-7597302 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 7596641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033489] [ENSMUST00000033490] [ENSMUST00000043045] [ENSMUST00000115687] [ENSMUST00000115688] [ENSMUST00000115689] [ENSMUST00000116633] [ENSMUST00000207337] [ENSMUST00000207461] [ENSMUST00000207386] [ENSMUST00000131077] [ENSMUST00000154253] [ENSMUST00000125991] [ENSMUST00000156000] [ENSMUST00000148624] [ENSMUST00000144148] [ENSMUST00000116634] [ENSMUST00000208156] [ENSMUST00000209144] [ENSMUST00000208524] [ENSMUST00000208443] [ENSMUST00000208553] [ENSMUST00000208528] [ENSMUST00000208072] [ENSMUST00000209143] [ENSMUST00000207675] [ENSMUST00000208618] [ENSMUST00000208719] [ENSMUST00000208996] [ENSMUST00000207589] [ENSMUST00000207541]

AlphaFold

Q9JIG8

Predicted Effect

unknown
Transcript: ENSMUST00000033489
AA Change: S178P

SMART Domains

Protein: ENSMUSP00000033489
Gene: ENSMUSG00000031149
AA Change: S178P

Domain	Start	End	E-Value	Type
Pfam:PRA1	1	157	4.2e-41	PFAM
low complexity region	164	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033490

SMART Domains

Protein: ENSMUSP00000033490
Gene: ENSMUSG00000031150

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	142	5.1e-50	PFAM
low complexity region	154	165	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	279	294	N/A	INTRINSIC
low complexity region	366	386	N/A	INTRINSIC
low complexity region	411	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043045

SMART Domains

Protein: ENSMUSP00000041456
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115687

SMART Domains

Protein: ENSMUSP00000111351
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115688

SMART Domains

Protein: ENSMUSP00000111352
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-15	BLAST
Blast:WD40	33	83	1e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
Blast:WD40	224	251	7e-8	BLAST
Blast:WD40	279	322	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115689

SMART Domains

Protein: ENSMUSP00000111353
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	3e-15	BLAST
Blast:WD40	33	83	2e-18	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART
WD40	224	265	4.79e-1	SMART
Blast:WD40	293	336	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000116633

SMART Domains

Protein: ENSMUSP00000112332
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	1e-15	BLAST
Blast:WD40	33	83	1e-17	BLAST
WD40	92	127	2.37e2	SMART
WD40	181	221	2.44e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127847

Predicted Effect

probably benign
Transcript: ENSMUST00000207109

Predicted Effect

probably benign
Transcript: ENSMUST00000207337

Predicted Effect

probably benign
Transcript: ENSMUST00000207461

Predicted Effect

probably benign
Transcript: ENSMUST00000207386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124707

Predicted Effect

probably benign
Transcript: ENSMUST00000131077

SMART Domains

Protein: ENSMUSP00000117784
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154253

SMART Domains

Protein: ENSMUSP00000138122
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-17	BLAST
PDB:3VU4\|B	9	68	1e-7	PDB
Blast:WD40	33	80	3e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000125991

SMART Domains

Protein: ENSMUSP00000119766
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	2e-17	BLAST
SCOP:d1k32a2	8	54	9e-3	SMART
PDB:3VU4\|B	9	68	1e-7	PDB
Blast:WD40	33	78	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000156000

SMART Domains

Protein: ENSMUSP00000121634
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148624

SMART Domains

Protein: ENSMUSP00000122086
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	7e-18	BLAST
PDB:3VU4\|B	9	135	4e-9	PDB
Blast:WD40	33	83	5e-19	BLAST
Blast:WD40	92	127	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000144148

SMART Domains

Protein: ENSMUSP00000116483
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	1e-17	BLAST
PDB:3VU4\|B	9	95	5e-9	PDB
Blast:WD40	33	83	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000116634

SMART Domains

Protein: ENSMUSP00000112333
Gene: ENSMUSG00000039382

Domain	Start	End	E-Value	Type
Blast:WD40	1	33	4e-15	BLAST
WD40	57	92	2.37e2	SMART
WD40	146	186	2.44e-3	SMART
WD40	189	230	4.79e-1	SMART
Blast:WD40	258	301	7e-11	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000208156
AA Change: S292P

Predicted Effect

probably benign
Transcript: ENSMUST00000209144

Predicted Effect

probably benign
Transcript: ENSMUST00000208524

Predicted Effect

probably benign
Transcript: ENSMUST00000208443

Predicted Effect

probably benign
Transcript: ENSMUST00000208553

Predicted Effect

probably benign
Transcript: ENSMUST00000208528

Predicted Effect

probably benign
Transcript: ENSMUST00000208072

Predicted Effect

probably benign
Transcript: ENSMUST00000209143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208517

Predicted Effect

probably benign
Transcript: ENSMUST00000207675

Predicted Effect

probably benign
Transcript: ENSMUST00000208618

Predicted Effect

probably benign
Transcript: ENSMUST00000208719

Predicted Effect

probably benign
Transcript: ENSMUST00000208996

Predicted Effect

probably benign
Transcript: ENSMUST00000207589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209077

Predicted Effect

probably benign
Transcript: ENSMUST00000207541

Predicted Effect

probably benign
Transcript: ENSMUST00000224502

Meta Mutation Damage Score

0.0937

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	probably benign	Het

Predicted Primers

PCR Primer
(F):5'- TGCCTCTGAGTGAATTCCCC -3'
(R):5'- GACTGAGTCTCAAATTCAGGACCG -3'

Sequencing Primer
(F):5'- GAGTGAATTCCCCATTTCTTGG -3'
(R):5'- AGACTTTGGTCCCTAGGTAACAG -3'

Posted On

2016-07-06