Mutagenetix > Incidental Mutation

Incidental Mutation 'R4464:Prxl2a'

377809

Institutional Source

Beutler Lab

Gene Symbol

Prxl2a

Ensembl Gene

ENSMUSG00000021792

Gene Name

peroxiredoxin like 2A

Synonyms

5730469M10Rik, Adrx, Adiporedoxin, Fam213a

MMRRC Submission

041722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40715697-40735745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40719832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 127 (K127N)

Ref Sequence

ENSEMBL: ENSMUSP00000121795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022317] [ENSMUST00000118466] [ENSMUST00000128236] [ENSMUST00000130166] [ENSMUST00000134715] [ENSMUST00000136661] [ENSMUST00000143143] [ENSMUST00000153830]

AlphaFold

Q9CYH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022317
AA Change: K127N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022317
Gene: ENSMUSG00000021792
AA Change: K127N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:AhpC-TSA	37	130	1.1e-6	PFAM
Pfam:AhpC-TSA_2	83	191	3.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118466
AA Change: K138N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112377
Gene: ENSMUSG00000021792
AA Change: K138N

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:AhpC-TSA	48	141	6.6e-7	PFAM
Pfam:AhpC-TSA_2	94	202	5.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128236

SMART Domains

Protein: ENSMUSP00000120052
Gene: ENSMUSG00000021792

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130166
AA Change: K127N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122866
Gene: ENSMUSG00000021792
AA Change: K127N

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC
Pfam:AhpC-TSA	37	130	6.2e-7	PFAM
Pfam:AhpC-TSA_2	83	176	2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134715

SMART Domains

Protein: ENSMUSP00000115439
Gene: ENSMUSG00000021792

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135797

Predicted Effect

probably damaging
Transcript: ENSMUST00000136661
AA Change: K127N

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

SMART Domains

Protein: ENSMUSP00000121795
Gene: ENSMUSG00000021792
AA Change: K127N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:AhpC-TSA	37	130	8.6e-7	PFAM
Pfam:AhpC-TSA_2	83	191	3.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143143
AA Change: K127N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115839
Gene: ENSMUSG00000021792
AA Change: K127N

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC
Pfam:AhpC-TSA	37	130	6.1e-7	PFAM
Pfam:AhpC-TSA_2	83	175	5.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153830
AA Change: K138N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117278
Gene: ENSMUSG00000021792
AA Change: K138N

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:AhpC-TSA_2	94	202	5e-18	PFAM

Meta Mutation Damage Score

0.3700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (35/36)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Abcc3	A	G	11: 94,249,612 (GRCm39)	V1111A	probably benign	Het
Acot10	G	A	15: 20,665,830 (GRCm39)	R304*	probably null	Het
Aldh8a1	C	A	10: 21,264,840 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,597,003 (GRCm39)	T1079A	possibly damaging	Het
Armc3	T	C	2: 19,253,470 (GRCm39)	Y204H	probably damaging	Het
Asnsd1	C	A	1: 53,391,686 (GRCm39)		probably null	Het
Atad5	T	A	11: 79,991,137 (GRCm39)		probably null	Het
Cst12	G	A	2: 148,631,437 (GRCm39)	V53I	possibly damaging	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dennd1a	A	T	2: 38,133,402 (GRCm39)		probably benign	Het
Gm7535	C	A	17: 18,131,924 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Ifngr1	G	A	10: 19,473,265 (GRCm39)	V72I	possibly damaging	Het
Kifap3	C	A	1: 163,645,464 (GRCm39)	Q269K	probably benign	Het
Krt86	G	A	15: 101,371,795 (GRCm39)	D122N	probably damaging	Het
Lrrcc1	A	G	3: 14,622,378 (GRCm39)	K694E	probably damaging	Het
Mbd4	A	G	6: 115,826,463 (GRCm39)	L155S	probably damaging	Het
Nalcn	T	C	14: 123,560,762 (GRCm39)	N772D	probably benign	Het
Or12d17	C	T	17: 37,777,742 (GRCm39)	S215F	probably damaging	Het
Psg29	A	T	7: 16,944,575 (GRCm39)	N362Y	possibly damaging	Het
Ptpn23	G	A	9: 110,215,881 (GRCm39)	T1325I	probably damaging	Het
Rad51ap1	T	C	6: 126,911,731 (GRCm39)	N52S	possibly damaging	Het
Rb1	C	A	14: 73,436,638 (GRCm39)		probably null	Het
Slc34a2	T	C	5: 53,226,524 (GRCm39)	L490P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
St3gal2	A	G	8: 111,694,134 (GRCm39)	N207D	probably benign	Het
Stat1	T	G	1: 52,176,575 (GRCm39)	D257E	possibly damaging	Het
Tkt	A	G	14: 30,290,231 (GRCm39)	T165A	possibly damaging	Het
Trim66	A	T	7: 109,076,897 (GRCm39)	S347R	possibly damaging	Het
Zfp429	T	C	13: 67,538,617 (GRCm39)	I276V	probably benign	Het

Other mutations in Prxl2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5549:Prxl2a	UTSW	14	40,726,013 (GRCm39)	missense	possibly damaging	0.83
R5742:Prxl2a	UTSW	14	40,724,460 (GRCm39)	missense	possibly damaging	0.86
R6761:Prxl2a	UTSW	14	40,716,578 (GRCm39)	missense	probably damaging	0.99
R7014:Prxl2a	UTSW	14	40,724,451 (GRCm39)	missense	probably benign	0.00
R7206:Prxl2a	UTSW	14	40,726,142 (GRCm39)	missense	probably benign	0.00
R8000:Prxl2a	UTSW	14	40,716,483 (GRCm39)	makesense	probably null
R8482:Prxl2a	UTSW	14	40,719,723 (GRCm39)	missense	probably benign	0.01
R8717:Prxl2a	UTSW	14	40,720,836 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGTAGAGATTCAGTCTGGGGCC -3'
(R):5'- AGCTTTCTGTTTCCCTAGGCAG -3'

Sequencing Primer
(F):5'- CCCATGGGTCTGAAGTCAATACTG -3'
(R):5'- CCCTAGGCAGTTGAGTATGATCC -3'

Posted On

2016-04-07