Mutagenetix > Incidental Mutation

Incidental Mutation 'R8717:Prxl2a'

669979

Institutional Source

Beutler Lab

Gene Symbol

Prxl2a

Ensembl Gene

ENSMUSG00000021792

Gene Name

peroxiredoxin like 2A

Synonyms

5730469M10Rik, Adrx, Adiporedoxin, Fam213a

MMRRC Submission

068570-MU

Accession Numbers

Essential gene?

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

Stock #

R8717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40715697-40735745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40720836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 126 (P126S)

Ref Sequence

ENSEMBL: ENSMUSP00000112377 (fasta)

Gene Model

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

AlphaFold

Q9CYH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022317
AA Change: P115S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022317
Gene: ENSMUSG00000021792
AA Change: P115S

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

possibly damaging
Transcript: ENSMUST00000118466
AA Change: P126S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112377
Gene: ENSMUSG00000021792
AA Change: P126S

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

possibly damaging
Transcript: ENSMUST00000130166
AA Change: P115S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122866
Gene: ENSMUSG00000021792
AA Change: P115S

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

possibly damaging
Transcript: ENSMUST00000136661
AA Change: P115S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121795
Gene: ENSMUSG00000021792
AA Change: P115S

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

possibly damaging
Transcript: ENSMUST00000143143
AA Change: P115S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115839
Gene: ENSMUSG00000021792
AA Change: P115S

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

possibly damaging
Transcript: ENSMUST00000153830
AA Change: P126S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117278
Gene: ENSMUSG00000021792
AA Change: P126S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,543,958 (GRCm39)	F528L	probably benign	Het
Aadacl3	T	G	4: 144,182,778 (GRCm39)	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,403,579 (GRCm39)		probably benign	Het
Agtr1a	A	C	13: 30,565,357 (GRCm39)	T141P	probably damaging	Het
Ankfy1	T	A	11: 72,621,300 (GRCm39)	D195E	probably benign	Het
AY074887	G	A	9: 54,857,786 (GRCm39)	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,034,314 (GRCm39)	A71V		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cntrl	T	A	2: 35,003,351 (GRCm39)	V78E	probably benign	Het
Cyp2c67	T	A	19: 39,627,155 (GRCm39)	Y225F	probably benign	Het
Cyp2j13	T	A	4: 95,933,777 (GRCm39)	H369L	probably benign	Het
Dagla	T	C	19: 10,225,587 (GRCm39)	E859G	probably benign	Het
Duox1	C	A	2: 122,168,152 (GRCm39)	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,556,561 (GRCm39)	S662I	probably benign	Het
Epor	A	T	9: 21,870,741 (GRCm39)	C380S	probably benign	Het
Fsd2	T	C	7: 81,190,090 (GRCm39)	E564G	probably benign	Het
Hace1	C	T	10: 45,481,694 (GRCm39)	T117I	unknown	Het
Ift172	A	G	5: 31,412,985 (GRCm39)	M1488T	probably benign	Het
Insyn1	A	G	9: 58,406,623 (GRCm39)	T178A	probably damaging	Het
Kdm3b	A	G	18: 34,952,840 (GRCm39)	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,434,711 (GRCm39)	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,783,253 (GRCm39)	E33K	probably damaging	Het
Magel2	T	C	7: 62,027,420 (GRCm39)	M108T	unknown	Het
Mief1	T	C	15: 80,132,584 (GRCm39)	S127P	probably benign	Het
Mprip	T	C	11: 59,650,526 (GRCm39)	V1410A	probably benign	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,738,687 (GRCm39)	M25K	possibly damaging	Het
Neb	T	G	2: 52,073,781 (GRCm39)	H5942P	probably damaging	Het
Nf2	A	T	11: 4,766,099 (GRCm39)	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,368,225 (GRCm39)	M1166L	probably benign	Het
Npnt	A	T	3: 132,614,136 (GRCm39)	L206Q	probably damaging	Het
Or10ak13	T	C	4: 118,638,996 (GRCm39)	Y262C	probably damaging	Het
Or4g7	A	G	2: 111,309,992 (GRCm39)	T288A	probably damaging	Het
Or6c65	T	A	10: 129,604,127 (GRCm39)	I254N	probably damaging	Het
Parg	A	G	14: 31,932,492 (GRCm39)	K444R	probably benign	Het
Pcbp4	A	T	9: 106,337,202 (GRCm39)		probably null	Het
Pcdhgb4	A	G	18: 37,853,847 (GRCm39)	S81G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekho2	T	C	9: 65,464,058 (GRCm39)	N264D	probably benign	Het
Pmpca	T	A	2: 26,281,893 (GRCm39)	M182K	probably damaging	Het
Prdm10	A	G	9: 31,252,695 (GRCm39)	H476R	probably benign	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rbp3	G	A	14: 33,678,395 (GRCm39)	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695 (GRCm39)	S409R	probably damaging	Het
Ryr1	C	A	7: 28,751,753 (GRCm39)	R3680L	probably benign	Het
Sbno1	T	C	5: 124,512,618 (GRCm39)	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,685,763 (GRCm39)	D271G	probably benign	Het
Sin3a	C	T	9: 57,034,510 (GRCm39)	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,294,620 (GRCm39)	R294G	probably benign	Het
Smcr8	T	A	11: 60,670,254 (GRCm39)	S467R	probably damaging	Het
Spaca7	A	G	8: 12,636,480 (GRCm39)	Y102C	probably damaging	Het
Tacr1	A	G	6: 82,380,706 (GRCm39)	Y39C	probably damaging	Het
Tenm3	G	A	8: 48,752,680 (GRCm39)	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,415,132 (GRCm39)	M307K	possibly damaging	Het
Tnn	A	G	1: 159,943,846 (GRCm39)	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,460,186 (GRCm39)	N441K	probably damaging	Het
Ttll1	T	C	15: 83,373,709 (GRCm39)	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,576,705 (GRCm39)	V858I	probably benign	Het
Ufsp2	G	T	8: 46,436,614 (GRCm39)	V122L	probably benign	Het
Wdr26	A	G	1: 181,011,913 (GRCm39)	C470R	possibly damaging	Het
Xab2	T	C	8: 3,663,845 (GRCm39)	H358R	probably benign	Het
Xrcc5	A	G	1: 72,422,905 (GRCm39)	I697V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TAGTCCCACCAGTGTACAGC -3'
(R):5'- GGTTTGCTCTTTGACTGCACAG -3'

Sequencing Primer
(F):5'- TGTCCATGTGAGCAAAGTGC -3'
(R):5'- TTGACTGCACAGCTCTGG -3'

Posted On

2021-04-30