Mutagenetix > Incidental Mutation

Incidental Mutation 'R5742:Prxl2a'

445631

Institutional Source

Beutler Lab

Gene Symbol

Prxl2a

Ensembl Gene

ENSMUSG00000021792

Gene Name

peroxiredoxin like 2A

Synonyms

5730469M10Rik, Adrx, Adiporedoxin, Fam213a

MMRRC Submission

043352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R5742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40715697-40735745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40724460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 57 (E57G)

Ref Sequence

ENSEMBL: ENSMUSP00000121795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022317] [ENSMUST00000118466] [ENSMUST00000128236] [ENSMUST00000130166] [ENSMUST00000134715] [ENSMUST00000136661] [ENSMUST00000143143] [ENSMUST00000153830] [ENSMUST00000152837]

AlphaFold

Q9CYH2

Predicted Effect

probably benign
Transcript: ENSMUST00000022317
AA Change: E57G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022317
Gene: ENSMUSG00000021792
AA Change: E57G

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 benign
Transcript: ENSMUST00000118466
AA Change: E68G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112377
Gene: ENSMUSG00000021792
AA Change: E68G

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

possibly damaging
Transcript: ENSMUST00000128236
AA Change: E57G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120052
Gene: ENSMUSG00000021792
AA Change: E57G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130166
AA Change: E57G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122866
Gene: ENSMUSG00000021792
AA Change: E57G

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
AA Change: E57G

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115439
Gene: ENSMUSG00000021792
AA Change: E57G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135797

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136661
AA Change: E57G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121795
Gene: ENSMUSG00000021792
AA Change: E57G

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 benign
Transcript: ENSMUST00000143143
AA Change: E57G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115839
Gene: ENSMUSG00000021792
AA Change: E57G

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 benign
Transcript: ENSMUST00000153830
AA Change: E68G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117278
Gene: ENSMUSG00000021792
AA Change: E68G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152837

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,056,379 (GRCm39)	A794T	possibly damaging	Het
Abca9	T	G	11: 110,051,243 (GRCm39)	E151A	probably damaging	Het
Abcb5	A	G	12: 118,881,992 (GRCm39)	V579A	probably damaging	Het
Apob	T	A	12: 8,057,191 (GRCm39)	L1858Q	probably damaging	Het
Cerk	C	T	15: 86,025,773 (GRCm39)	E223K	probably damaging	Het
Cntnap2	T	A	6: 45,897,860 (GRCm39)	Y179*	probably null	Het
Ddx60	A	T	8: 62,401,955 (GRCm39)	Y277F	probably benign	Het
Dlgap1	T	G	17: 71,025,194 (GRCm39)	V538G	probably benign	Het
Duox2	A	G	2: 122,115,402 (GRCm39)	I1050T	probably benign	Het
Dusp10	A	G	1: 183,769,853 (GRCm39)		probably null	Het
Dync2h1	T	A	9: 7,165,762 (GRCm39)	I500F	possibly damaging	Het
Erich3	T	A	3: 154,438,960 (GRCm39)	C398S	probably damaging	Het
Fez1	G	A	9: 36,761,743 (GRCm39)		probably null	Het
Fkbp3	A	C	12: 65,116,812 (GRCm39)	H41Q	probably benign	Het
Fras1	C	G	5: 96,916,240 (GRCm39)	Q3425E	possibly damaging	Het
Fuca1	T	C	4: 135,650,286 (GRCm39)	V119A	probably damaging	Het
Grhl2	A	G	15: 37,328,616 (GRCm39)	K414R	probably damaging	Het
Heatr5a	A	T	12: 52,002,335 (GRCm39)	C200*	probably null	Het
Hmgcs2	A	G	3: 98,204,832 (GRCm39)	N330S	probably benign	Het
Hspd1	A	G	1: 55,123,766 (GRCm39)	V118A	probably benign	Het
Jmjd1c	A	G	10: 67,056,112 (GRCm39)	T511A	probably benign	Het
Kat6b	T	C	14: 21,718,503 (GRCm39)	S1061P	probably damaging	Het
Kcnh6	T	C	11: 105,899,968 (GRCm39)	V79A	probably benign	Het
Kel	C	T	6: 41,675,961 (GRCm39)	G243E	probably damaging	Het
Klc4	C	T	17: 46,953,197 (GRCm39)	R111Q	probably damaging	Het
Lrp1	T	C	10: 127,384,216 (GRCm39)	D3641G	probably damaging	Het
Map2k1	A	T	9: 64,101,053 (GRCm39)	D208E	probably damaging	Het
Masp1	T	A	16: 23,273,675 (GRCm39)	M588L	probably benign	Het
Mgl2	T	A	11: 70,027,510 (GRCm39)	N239K	probably benign	Het
Mki67	G	A	7: 135,306,102 (GRCm39)	T625M	probably benign	Het
Ndufb5	T	C	3: 32,801,930 (GRCm39)	Y112H	probably damaging	Het
Npr3	A	G	15: 11,883,494 (GRCm39)	S312P	probably damaging	Het
Nuf2	A	T	1: 169,344,191 (GRCm39)	I125N	probably damaging	Het
Obox1	G	A	7: 15,289,430 (GRCm39)	G73D	possibly damaging	Het
Odad4	G	A	11: 100,436,699 (GRCm39)	G25R	possibly damaging	Het
Or51a43	G	T	7: 103,717,412 (GRCm39)	H275Q	probably damaging	Het
Or8g19	T	A	9: 39,055,974 (GRCm39)	F193I	probably benign	Het
Pcdhb15	T	C	18: 37,607,820 (GRCm39)	S351P	probably damaging	Het
Phc2	G	T	4: 128,639,661 (GRCm39)	R121L	probably damaging	Het
Pla2g2a	A	G	4: 138,560,653 (GRCm39)	K87E	probably benign	Het
Plekhh2	T	A	17: 84,905,408 (GRCm39)	S1101T	probably damaging	Het
Ppp4r1	T	C	17: 66,144,741 (GRCm39)	I786T	probably damaging	Het
Ros1	A	T	10: 52,018,234 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,927,023 (GRCm39)	V863E	probably benign	Het
Trnt1	T	A	6: 106,755,878 (GRCm39)	L311*	probably null	Het
Vmn1r47	T	A	6: 89,999,500 (GRCm39)	L211M	probably damaging	Het
Zfp12	A	G	5: 143,230,945 (GRCm39)	E424G	probably damaging	Het
Zranb2	T	A	3: 157,246,340 (GRCm39)	Y17*	probably null	Het

Other mutations in Prxl2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4464:Prxl2a	UTSW	14	40,719,832 (GRCm39)	missense	probably damaging	0.99
R5549:Prxl2a	UTSW	14	40,726,013 (GRCm39)	missense	possibly damaging	0.83
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'- AATGTCAGAAGGCTCAGAGC -3'
(R):5'- GTTGGATCATTAAGCCCTCCTTG -3'

Sequencing Primer
(F):5'- GAGCACACATAAGCCCTTGGTC -3'
(R):5'- GGATCATTAAGCCCTCCTTGTTAGTG -3'

Posted On

2016-11-21