Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01867:Prr23a2'

178569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr23a2

Ensembl Gene

ENSMUSG00000063058

Gene Name

proline rich 23A, member 2

Synonyms

Gm6406

Accession Numbers

Essential gene?

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

Stock #

IGL01867

Quality Score

Status

Chromosome

Chromosomal Location

98738644-98739405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98739113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 157 (E157G)

Ref Sequence

ENSEMBL: ENSMUSP00000071270 (fasta)

Gene Model

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

AlphaFold

D3YWX5

Predicted Effect

probably benign
Transcript: ENSMUST00000071302
AA Change: E157G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071270
Gene: ENSMUSG00000063058
AA Change: E157G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,635,364 (GRCm39)	E213G	probably benign	Het
Akap6	T	C	12: 52,934,791 (GRCm39)	L761P	probably damaging	Het
Bbs7	A	C	3: 36,627,696 (GRCm39)	L697R	probably benign	Het
Cd74	G	A	18: 60,941,352 (GRCm39)	R99H	probably benign	Het
Cpne6	A	G	14: 55,751,137 (GRCm39)	N182S	probably benign	Het
Cyp4f17	A	G	17: 32,747,057 (GRCm39)	H429R	probably benign	Het
Dact2	A	T	17: 14,415,932 (GRCm39)	M756K	probably damaging	Het
Ets1	A	G	9: 32,645,455 (GRCm39)	D234G	probably damaging	Het
Fat3	A	C	9: 16,289,197 (GRCm39)	S109A	probably benign	Het
Fras1	G	T	5: 96,735,990 (GRCm39)	M528I	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gtf3c1	A	G	7: 125,261,548 (GRCm39)	F1189L	probably benign	Het
Ift81	A	T	5: 122,740,739 (GRCm39)		probably benign	Het
Insyn2b	A	G	11: 34,353,065 (GRCm39)	E369G	probably benign	Het
Lag3	A	G	6: 124,887,869 (GRCm39)	S22P	probably benign	Het
Mos	G	T	4: 3,870,845 (GRCm39)	Q324K	probably benign	Het
Mtx2	T	A	2: 74,706,733 (GRCm39)	V236E	probably damaging	Het
Naip6	T	C	13: 100,436,820 (GRCm39)	T568A	probably benign	Het
Or5k8	A	G	16: 58,644,337 (GRCm39)	F245S	probably damaging	Het
Or6c35	T	A	10: 129,169,232 (GRCm39)	L161M	probably damaging	Het
Or6c68	T	C	10: 129,157,585 (GRCm39)	I31T	probably benign	Het
Or6c88	G	A	10: 129,406,696 (GRCm39)	M57I	possibly damaging	Het
Or8b53	A	C	9: 38,667,194 (GRCm39)	D70A	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Pde8b	T	C	13: 95,237,446 (GRCm39)	D116G	probably damaging	Het
Plxnc1	A	G	10: 94,634,008 (GRCm39)	V1365A	possibly damaging	Het
Prex2	G	T	1: 11,168,727 (GRCm39)	C241F	probably benign	Het
Ptpn4	A	T	1: 119,603,329 (GRCm39)	H836Q	probably benign	Het
Ptprd	C	T	4: 76,161,884 (GRCm39)	R117H	probably damaging	Het
Rab11fip4	T	C	11: 79,574,216 (GRCm39)	S102P	probably benign	Het
Slc44a1	G	T	4: 53,536,405 (GRCm39)	V194F	probably damaging	Het
Synm	T	A	7: 67,383,222 (GRCm39)	H1480L	probably benign	Het
Tmem63a	A	G	1: 180,783,570 (GRCm39)	Y175C	possibly damaging	Het
Trmt61a	C	T	12: 111,645,150 (GRCm39)	R29C	probably benign	Het
Ubap1	C	T	4: 41,379,236 (GRCm39)	T150I	probably benign	Het
Uimc1	T	C	13: 55,223,214 (GRCm39)	M353V	probably benign	Het
Usp34	T	C	11: 23,334,411 (GRCm39)	M1135T	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,196 (GRCm39)	L31R	probably damaging	Het
Wtap	T	C	17: 13,188,342 (GRCm39)	E186G	probably benign	Het
Wwc2	T	G	8: 48,336,615 (GRCm39)	N216H	probably benign	Het
Zhx1	A	T	15: 57,917,841 (GRCm39)	M135K	probably damaging	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
R0542:Prr23a2	UTSW	9	98,739,086 (GRCm39)	missense	probably benign	0.00
R0566:Prr23a2	UTSW	9	98,739,041 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2014-05-07