Mutagenetix > Incidental Mutation

Incidental Mutation 'R0566:Prr23a2'

46190

Institutional Source

Beutler Lab

Gene Symbol

Prr23a2

Ensembl Gene

ENSMUSG00000063058

Gene Name

proline rich 23A, member 2

Synonyms

Gm6406

MMRRC Submission

038757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0566 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98738644-98739405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98739041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 133 (L133H)

Ref Sequence

ENSEMBL: ENSMUSP00000071270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071302]

AlphaFold

D3YWX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071302
AA Change: L133H

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071270
Gene: ENSMUSG00000063058
AA Change: L133H

Domain	Start	End	E-Value	Type
Pfam:DUF2476	2	250	1.5e-92	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (24/25)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,266 (GRCm39)	L254P	possibly damaging	Het
Adamts6	C	A	13: 104,581,435 (GRCm39)	A850E	probably benign	Het
Ccdc112	A	C	18: 46,423,877 (GRCm39)	V287G	probably damaging	Het
Ctbp2	A	G	7: 132,592,876 (GRCm39)	V811A	probably damaging	Het
Dchs1	A	G	7: 105,408,402 (GRCm39)	V1810A	probably benign	Het
Dhx15	T	G	5: 52,328,767 (GRCm39)	K287T	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,221,840 (GRCm39)		probably benign	Het
Gnpda2	A	G	5: 69,742,304 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,355,583 (GRCm39)	F2S	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,768 (GRCm39)	L494P	probably benign	Het
Or2r2	T	A	6: 42,464,025 (GRCm39)	Y34F	probably damaging	Het
Paqr8	C	A	1: 21,005,687 (GRCm39)	H280Q	possibly damaging	Het
Perm1	A	T	4: 156,302,316 (GRCm39)	M287L	probably benign	Het
Piwil2	A	G	14: 70,647,843 (GRCm39)	V323A	probably damaging	Het
Pon3	A	G	6: 5,232,408 (GRCm39)	V131A	possibly damaging	Het
Prima1	C	A	12: 103,163,573 (GRCm39)	A133S	probably benign	Het
Prl7c1	A	G	13: 27,962,961 (GRCm39)	L14P	probably damaging	Het
Samd3	T	C	10: 26,120,396 (GRCm39)	V157A	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tep1	A	T	14: 51,082,871 (GRCm39)		probably null	Het
Tmem208	T	C	8: 106,061,475 (GRCm39)	V167A	probably benign	Het
Tnrc6a	A	T	7: 122,770,136 (GRCm39)	N642I	probably benign	Het
Vps26a	A	G	10: 62,316,325 (GRCm39)		probably benign	Het
Zfp112	T	C	7: 23,825,102 (GRCm39)	S357P	probably benign	Het

Other mutations in Prr23a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Prr23a2	APN	9	98,739,014 (GRCm39)	missense	probably benign	0.03
IGL01867:Prr23a2	APN	9	98,739,113 (GRCm39)	missense	probably benign
R0542:Prr23a2	UTSW	9	98,739,086 (GRCm39)	missense	probably benign	0.00
R0831:Prr23a2	UTSW	9	98,738,917 (GRCm39)	missense	probably damaging	1.00
R5382:Prr23a2	UTSW	9	98,739,229 (GRCm39)	missense	probably damaging	1.00
R7309:Prr23a2	UTSW	9	98,739,027 (GRCm39)	missense	probably benign	0.43
R9439:Prr23a2	UTSW	9	98,738,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCCTAGTGTGACATTTCACGAC -3'
(R):5'- CCTGGGACTTGTTCCTGCAACAAAG -3'

Sequencing Primer
(F):5'- AGAGCCGTCCATCATGCTG -3'
(R):5'- CTTGTTCCTGCAACAAAGGACTG -3'

Posted On

2013-06-11