Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01483:Prr23a1'

88685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr23a1

Ensembl Gene

ENSMUSG00000091080

Gene Name

proline rich 23A, member 1

Synonyms

Gm6400, Prr23a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01483

Quality Score

Status

Chromosome

Chromosomal Location

98724556-98725438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98725369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 244 (S244A)

Ref Sequence

ENSEMBL: ENSMUSP00000127711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170349]

AlphaFold

G3UW32

Predicted Effect

probably benign
Transcript: ENSMUST00000170349
AA Change: S244A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127711
Gene: ENSMUSG00000091080
AA Change: S244A

Domain	Start	End	E-Value	Type
Pfam:DUF2476	2	255	2.6e-96	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	G	T	16: 90,351,201 (GRCm39)		noncoding transcript	Het
Abcb4	T	C	5: 8,977,871 (GRCm39)	I483T	probably damaging	Het
Ank3	A	T	10: 69,710,639 (GRCm39)	H388L	probably damaging	Het
Arhgap24	T	C	5: 103,008,243 (GRCm39)	Y52H	possibly damaging	Het
Atf7ip	A	G	6: 136,564,457 (GRCm39)	N900S	probably damaging	Het
Bmp10	A	T	6: 87,410,933 (GRCm39)	D242V	probably damaging	Het
Ceacam12	A	G	7: 17,801,446 (GRCm39)	R142G	probably benign	Het
Cilp2	T	A	8: 70,335,496 (GRCm39)	I501F	probably damaging	Het
Cplane1	T	G	15: 8,216,591 (GRCm39)	I603S	probably damaging	Het
Dglucy	T	C	12: 100,819,476 (GRCm39)	V426A	probably damaging	Het
Dyrk1b	A	G	7: 27,882,101 (GRCm39)	D94G	probably damaging	Het
Efcab3	T	C	11: 104,630,173 (GRCm39)	V968A	probably benign	Het
Erbb2	C	T	11: 98,325,365 (GRCm39)	R898C	probably damaging	Het
Fbxo7	T	C	10: 85,880,445 (GRCm39)	Y298H	probably damaging	Het
Gcg	T	C	2: 62,310,827 (GRCm39)	D25G	possibly damaging	Het
Helb	A	G	10: 119,947,043 (GRCm39)	V90A	probably damaging	Het
Krt40	T	A	11: 99,433,553 (GRCm39)	E144D	probably damaging	Het
Lpo	G	A	11: 87,711,964 (GRCm39)	T31I	probably benign	Het
Mc5r	A	G	18: 68,472,315 (GRCm39)	I225V	probably damaging	Het
Mccc1	A	G	3: 36,044,009 (GRCm39)	F245L	probably damaging	Het
Mindy4	A	G	6: 55,193,670 (GRCm39)	D121G	probably damaging	Het
Nap1l4	A	T	7: 143,081,053 (GRCm39)		probably null	Het
Noc4l	T	A	5: 110,796,824 (GRCm39)	K486M	probably damaging	Het
Notum	T	C	11: 120,547,482 (GRCm39)	D271G	probably damaging	Het
Pan3	T	A	5: 147,466,783 (GRCm39)	L550Q	probably benign	Het
Pde4dip	A	G	3: 97,661,465 (GRCm39)	S594P	probably damaging	Het
Pramel12	A	T	4: 143,144,047 (GRCm39)	E131V	probably damaging	Het
Rarb	T	C	14: 16,432,273 (GRCm38)		probably benign	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Slco6c1	T	C	1: 97,055,832 (GRCm39)	N23S	probably benign	Het
Smarcc1	G	T	9: 110,051,128 (GRCm39)	G983*	probably null	Het
Tbc1d22a	A	T	15: 86,275,404 (GRCm39)	Q442L	probably benign	Het
Tuba1b	A	G	15: 98,830,338 (GRCm39)	Y161H	possibly damaging	Het
Zdhhc14	G	A	17: 5,762,733 (GRCm39)	M212I	probably benign	Het

Other mutations in Prr23a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1677:Prr23a1	UTSW	9	98,725,406 (GRCm39)	missense	probably benign	0.06
R2105:Prr23a1	UTSW	9	98,724,709 (GRCm39)	missense	probably damaging	0.99
R6854:Prr23a1	UTSW	9	98,724,988 (GRCm39)	missense	possibly damaging	0.91
R7524:Prr23a1	UTSW	9	98,724,917 (GRCm39)	missense	probably damaging	1.00
R9134:Prr23a1	UTSW	9	98,724,935 (GRCm39)	missense
Z1088:Prr23a1	UTSW	9	98,725,400 (GRCm39)	missense	possibly damaging	0.71

Posted On

2013-11-18