Mutagenetix > Incidental Mutation

Incidental Mutation 'R1350:Prxl2b'

159520

Institutional Source

Beutler Lab

Gene Symbol

Prxl2b

Ensembl Gene

ENSMUSG00000029059

Gene Name

peroxiredoxin like 2B

Synonyms

PM/PGFS, Fam213b, 2810405K02Rik

MMRRC Submission

039415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1350 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

154980884-154983522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154982585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 107 (R107L)

Ref Sequence

ENSEMBL: ENSMUSP00000030935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030935] [ENSMUST00000079269] [ENSMUST00000080559] [ENSMUST00000105634] [ENSMUST00000105635] [ENSMUST00000132281] [ENSMUST00000163732]

AlphaFold

Q9DB60

Predicted Effect

probably damaging
Transcript: ENSMUST00000030935
AA Change: R107L

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

SMART Domains

Protein: ENSMUSP00000030935
Gene: ENSMUSG00000029059
AA Change: R107L

Domain	Start	End	E-Value	Type
Pfam:AhpC-TSA_2	53	166	9.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079269

SMART Domains

Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	99	498	1.7e-135	PFAM
Pfam:Peptidase_M13	559	767	1.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080559

SMART Domains

Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	512	4.8e-131	PFAM
Pfam:Peptidase_M13	573	779	3.4e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105634

SMART Domains

Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	512	1.4e-105	PFAM
Pfam:Peptidase_M13	573	781	4e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105635

SMART Domains

Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	76	475	1.6e-135	PFAM
Pfam:Peptidase_M13	536	744	1.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129623

Predicted Effect

probably damaging
Transcript: ENSMUST00000132281
AA Change: R63L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116611
Gene: ENSMUSG00000029059
AA Change: R63L

Domain	Start	End	E-Value	Type
Pfam:AhpC-TSA_2	9	114	4.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163732

SMART Domains

Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Peptidase_M13_N	99	498	1.7e-135	PFAM
Pfam:Peptidase_M13	559	765	3.3e-71	PFAM

Meta Mutation Damage Score

0.7644

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,400,925 (GRCm39)	V640A	probably benign	Het
AI661453	C	T	17: 47,778,853 (GRCm39)	Q860*	probably null	Het
Atp10d	A	G	5: 72,418,469 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,205,950 (GRCm39)		probably null	Het
Bivm	T	A	1: 44,165,863 (GRCm39)	N104K	possibly damaging	Het
Capn15	A	G	17: 26,183,666 (GRCm39)	S338P	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccn6	C	T	10: 39,034,302 (GRCm39)	C100Y	probably damaging	Het
Col13a1	G	A	10: 61,729,848 (GRCm39)		probably benign	Het
Crb2	A	G	2: 37,682,081 (GRCm39)	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,771,081 (GRCm39)	I1105F	probably damaging	Het
Dnaja2	A	T	8: 86,266,717 (GRCm39)	F337I	probably damaging	Het
Dntt	C	T	19: 41,025,578 (GRCm39)		probably benign	Het
Dock3	C	T	9: 106,791,831 (GRCm39)	E1381K	possibly damaging	Het
Fibp	T	C	19: 5,511,419 (GRCm39)	Y96H	probably damaging	Het
Garnl3	A	G	2: 32,942,226 (GRCm39)	V85A	probably damaging	Het
Gsdme	A	T	6: 50,223,108 (GRCm39)		probably null	Het
Gucy2c	A	T	6: 136,720,912 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,809,217 (GRCm39)	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530 (GRCm39)	Q384*	probably null	Het
Itga10	T	A	3: 96,564,793 (GRCm39)	M961K	probably benign	Het
Kcnk1	C	T	8: 126,751,967 (GRCm39)	T191I	probably benign	Het
Khdrbs1	G	A	4: 129,614,545 (GRCm39)	P336L	probably benign	Het
Klhdc2	T	A	12: 69,352,484 (GRCm39)		probably null	Het
Lipc	T	C	9: 70,705,649 (GRCm39)	H478R	probably benign	Het
Lrp12	A	T	15: 39,741,646 (GRCm39)	C356*	probably null	Het
Nf1	T	A	11: 79,303,513 (GRCm39)	C397S	probably damaging	Het
Nox3	A	G	17: 3,700,396 (GRCm39)	F439S	probably damaging	Het
Or12e9	T	A	2: 87,202,701 (GRCm39)	V275E	probably benign	Het
Or13a18	T	C	7: 140,190,622 (GRCm39)	V181A	probably damaging	Het
Or3a1b	T	C	11: 74,013,039 (GRCm39)	L308P	possibly damaging	Het
Or4b12	A	T	2: 90,096,690 (GRCm39)	L28Q	probably damaging	Het
Or51b17	A	G	7: 103,542,937 (GRCm39)	W2R	probably benign	Het
Or7g29	T	G	9: 19,286,710 (GRCm39)	S156R	possibly damaging	Het
Or8b37	G	A	9: 37,959,111 (GRCm39)	V198I	probably benign	Het
Pcif1	T	C	2: 164,728,687 (GRCm39)	F288L	probably damaging	Het
Skint7	G	T	4: 111,837,521 (GRCm39)	A100S	possibly damaging	Het
Ssu2	A	T	6: 112,351,807 (GRCm39)	L306*	probably null	Het
Tasp1	T	C	2: 139,899,341 (GRCm39)	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,595,955 (GRCm39)	D99E	probably benign	Het
Ube3b	A	G	5: 114,544,198 (GRCm39)		probably null	Het
Uox	A	G	3: 146,330,330 (GRCm39)	D162G	probably damaging	Het
Usp18	A	G	6: 121,239,651 (GRCm39)	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,685,886 (GRCm39)	N177S	probably benign	Het
Vwa2	T	A	19: 56,897,558 (GRCm39)	M621K	probably damaging	Het
Wdfy3	C	A	5: 102,046,418 (GRCm39)	D1797Y	probably damaging	Het
Ylpm1	A	T	12: 85,060,856 (GRCm39)		probably benign	Het
Zbtb9	G	A	17: 27,193,380 (GRCm39)	V262I	probably benign	Het

Other mutations in Prxl2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Prxl2b	APN	4	154,981,059 (GRCm39)	unclassified	probably benign
IGL03102:Prxl2b	APN	4	154,981,058 (GRCm39)	unclassified	probably benign
R1676:Prxl2b	UTSW	4	154,981,520 (GRCm39)	missense	probably benign	0.05
R1778:Prxl2b	UTSW	4	154,981,814 (GRCm39)	missense	probably damaging	0.98
R2164:Prxl2b	UTSW	4	154,982,606 (GRCm39)	missense	probably damaging	1.00
R4468:Prxl2b	UTSW	4	154,981,507 (GRCm39)	missense	probably benign	0.01
R5007:Prxl2b	UTSW	4	154,981,531 (GRCm39)	splice site	probably null
R5386:Prxl2b	UTSW	4	154,983,462 (GRCm39)	start codon destroyed	probably benign	0.01
R6820:Prxl2b	UTSW	4	154,982,623 (GRCm39)	missense	probably damaging	1.00
R7437:Prxl2b	UTSW	4	154,981,053 (GRCm39)	missense	possibly damaging	0.53
X0063:Prxl2b	UTSW	4	154,983,410 (GRCm39)	missense	probably benign	0.03
Z1176:Prxl2b	UTSW	4	154,983,446 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACAGGCAGTCTGTGGCAAC -3'
(R):5'- AGACCTAGTGGCAAAGTCCCAGTG -3'

Sequencing Primer
(F):5'- AGGTCCCTCCTGTTTATGAAATAGC -3'
(R):5'- GCAAAGTCCCAGTGACTCTTG -3'

Posted On

2014-03-14