Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Prr23a3'

389506

Institutional Source

Beutler Lab

Gene Symbol

Prr23a3

Ensembl Gene

ENSMUSG00000090470

Gene Name

proline rich 23A, member 3

Synonyms

2410012M07Rik

MMRRC Submission

042626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5035 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

98746820-98748633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98747183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 46 (E46K)

Ref Sequence

ENSEMBL: ENSMUSP00000130716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167951]

AlphaFold

Q9CWP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167951
AA Change: E46K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130716
Gene: ENSMUSG00000090470
AA Change: E46K

Domain	Start	End	E-Value	Type
Pfam:DUF2476	1	251	8.2e-123	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,810 (GRCm39)	I361V	probably benign	Het
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Bcas3	C	T	11: 85,434,771 (GRCm39)	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,357,065 (GRCm39)	T121P	probably benign	Het
Bicra	C	T	7: 15,713,349 (GRCm39)	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,725,809 (GRCm39)	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,806,911 (GRCm39)		probably benign	Het
Clcnka	A	T	4: 141,122,469 (GRCm39)	Y179*	probably null	Het
Creb3l1	T	A	2: 91,817,431 (GRCm39)	I361F	probably benign	Het
Csmd3	T	C	15: 47,454,175 (GRCm39)	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,599,953 (GRCm39)	S190G	probably benign	Het
Dbx1	T	C	7: 49,282,284 (GRCm39)	H307R	unknown	Het
Dock8	C	A	19: 25,063,571 (GRCm39)	P258T	probably damaging	Het
Eml6	T	C	11: 29,804,187 (GRCm39)	I305V	probably benign	Het
Frem3	T	A	8: 81,342,543 (GRCm39)	F1612Y	probably damaging	Het
Fubp1	A	G	3: 151,920,488 (GRCm39)	T76A	probably benign	Het
Glmp	G	C	3: 88,233,951 (GRCm39)		probably benign	Het
Gm20918	A	G	Y: 5,045,992 (GRCm39)	Q183R	probably benign	Het
Krt28	T	C	11: 99,257,650 (GRCm39)	N397S	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map3k13	T	C	16: 21,740,421 (GRCm39)	Y583H	probably benign	Het
Mcm3	A	T	1: 20,873,642 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,663,790 (GRCm39)	V588A	probably benign	Het
Or1j19	A	G	2: 36,676,903 (GRCm39)	D122G	probably damaging	Het
Or2z9	T	A	8: 72,853,922 (GRCm39)	L106H	probably damaging	Het
Or4c105	A	T	2: 88,648,443 (GRCm39)	K309N	probably benign	Het
Or51a43	G	A	7: 103,717,614 (GRCm39)	T208I	possibly damaging	Het
Or8g37	G	A	9: 39,731,390 (GRCm39)	A152T	possibly damaging	Het
Osbpl9	A	G	4: 108,923,364 (GRCm39)	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,431,720 (GRCm39)	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,205,904 (GRCm39)	S247C	possibly damaging	Het
Ptprz1	A	G	6: 23,016,214 (GRCm39)	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,551,606 (GRCm39)	F263V	probably damaging	Het
Rnf4	A	G	5: 34,508,683 (GRCm39)	K182E	probably damaging	Het
Slc24a2	G	T	4: 86,929,943 (GRCm39)	R469S	possibly damaging	Het
Speer2	A	G	16: 69,654,829 (GRCm39)		probably null	Het
Tg	C	A	15: 66,553,662 (GRCm39)		probably null	Het
Tns1	G	A	1: 73,992,979 (GRCm39)		probably benign	Het
Top2b	G	T	14: 16,409,966 (GRCm38)	A878S	probably benign	Het
Trgc4	G	T	13: 19,536,506 (GRCm39)	R188L	unknown	Het
Ugt3a1	G	A	15: 9,361,704 (GRCm39)	R160Q	probably benign	Het
Ush2a	G	T	1: 188,643,005 (GRCm39)	L4122F	probably damaging	Het

Other mutations in Prr23a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02201:Prr23a3	APN	9	98,747,297 (GRCm39)	missense	possibly damaging	0.72
R4564:Prr23a3	UTSW	9	98,747,190 (GRCm39)	missense	probably damaging	1.00
R4752:Prr23a3	UTSW	9	98,747,700 (GRCm39)	missense	probably damaging	0.99
R4979:Prr23a3	UTSW	9	98,747,431 (GRCm39)	missense	possibly damaging	0.83
R6171:Prr23a3	UTSW	9	98,747,731 (GRCm39)	missense	probably benign
R9019:Prr23a3	UTSW	9	98,747,213 (GRCm39)	missense	probably damaging	1.00
R9257:Prr23a3	UTSW	9	98,747,298 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGCAGAGCACGAGACTGTAG -3'
(R):5'- GTCCAAAATGGGTGGAGTCTTG -3'

Sequencing Primer
(F):5'- ACGAGACTGTAGCCGCTC -3'
(R):5'- TGGAGTCTTGGAGCCCCTC -3'

Posted On

2016-06-06