Mutagenetix > Incidental Mutation

Incidental Mutation 'R6761:Prxl2a'

531716

Institutional Source

Beutler Lab

Gene Symbol

Prxl2a

Ensembl Gene

ENSMUSG00000021792

Gene Name

peroxiredoxin like 2A

Synonyms

5730469M10Rik, Adrx, Adiporedoxin, Fam213a

MMRRC Submission

044877-MU

Accession Numbers

Essential gene?

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

Stock #

R6761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40715697-40735745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40716578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 198 (H198L)

Ref Sequence

ENSEMBL: ENSMUSP00000117278 (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: H187L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022317
Gene: ENSMUSG00000021792
AA Change: H187L

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: H198L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112377
Gene: ENSMUSG00000021792
AA Change: H198L

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 benign
Transcript: ENSMUST00000130166

SMART Domains

Protein: ENSMUSP00000122866
Gene: ENSMUSG00000021792

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

probably damaging
Transcript: ENSMUST00000136661
AA Change: H187L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121795
Gene: ENSMUSG00000021792
AA Change: H187L

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

SMART Domains

Protein: ENSMUSP00000115839
Gene: ENSMUSG00000021792

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: H198L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117278
Gene: ENSMUSG00000021792
AA Change: H198L

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

0.7524

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (34/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Actr3b	C	T	5: 26,030,137 (GRCm39)	S67F	probably damaging	Het
Ap3m1	T	C	14: 21,088,096 (GRCm39)	M107V	probably benign	Het
Ccdc27	C	T	4: 154,122,155 (GRCm39)	G241D	unknown	Het
Cit	T	G	5: 116,046,734 (GRCm39)	D382E	probably damaging	Het
Clec3b	G	T	9: 122,986,004 (GRCm39)	G134V	probably damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Dst	T	C	1: 34,253,631 (GRCm39)	S4300P	probably damaging	Het
Ebna1bp2	C	T	4: 118,480,558 (GRCm39)	R134*	probably null	Het
Efcab14	T	C	4: 115,596,024 (GRCm39)	S57P	probably damaging	Het
Exosc2	T	C	2: 31,560,875 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,043,145 (GRCm39)	T630A	probably damaging	Het
Hkdc1	A	T	10: 62,244,477 (GRCm39)	I203N	possibly damaging	Het
Hltf	T	A	3: 20,137,996 (GRCm39)		probably null	Het
Igkv3-2	G	T	6: 70,675,501 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,965,047 (GRCm39)	D471G	probably damaging	Het
Msmo1	A	G	8: 65,172,061 (GRCm39)	Y281H	probably benign	Het
Nid1	A	G	13: 13,656,620 (GRCm39)	T584A	probably benign	Het
Olfr908	A	G	9: 38,427,561 (GRCm39)	T78A	probably damaging	Het
Or52a24	C	T	7: 103,381,691 (GRCm39)	A186V	probably damaging	Het
Otoa	G	A	7: 120,721,173 (GRCm39)	G396D	probably damaging	Het
Prss45	G	T	9: 110,669,487 (GRCm39)	A197S	probably damaging	Het
Rpap2	T	A	5: 107,768,104 (GRCm39)	I314N	probably benign	Het
Sash1	A	G	10: 8,620,286 (GRCm39)	M458T	probably damaging	Het
Slc44a5	A	G	3: 153,945,714 (GRCm39)		probably null	Het
Sorbs2	T	C	8: 46,225,651 (GRCm39)	S254P	probably damaging	Het
Sycp2	T	C	2: 178,016,144 (GRCm39)		probably null	Het
Tedc1	A	G	12: 113,125,334 (GRCm39)	D252G	probably damaging	Het
Uty	T	C	Y: 1,186,790 (GRCm39)	H145R	probably damaging	Homo
Vmn1r9	A	G	6: 57,048,291 (GRCm39)	Y122C	probably benign	Het
Wdfy4	T	A	14: 32,817,908 (GRCm39)	N1491Y	possibly damaging	Het
Wdr37	T	C	13: 8,899,684 (GRCm39)	T140A	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
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'- TATGGTGCAAGGGCCTTCTG -3'
(R):5'- TGTCCCAAATATAAGGACATGACTTCC -3'

Sequencing Primer
(F):5'- CTTCTGGCTCTTGGGGCC -3'
(R):5'- ACTTCCTCAGTCCCCTTCCTCAG -3'

Posted On

2018-08-29