Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02345:Prr16'

289233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr16

Ensembl Gene

ENSMUSG00000073565

Gene Name

proline rich 16

Synonyms

5430406M13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02345

Quality Score

Status

Chromosome

Chromosomal Location

51250970-51437713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51436301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 260 (F260S)

Ref Sequence

ENSEMBL: ENSMUSP00000112338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116639]

AlphaFold

A3KMN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000116639
AA Change: F260S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: F260S

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:DUF4589	53	304	4.4e-80	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,214,215 (GRCm39)	D177Y	possibly damaging	Het
Casc3	T	C	11: 98,718,390 (GRCm39)		probably benign	Het
Catspere2	G	A	1: 177,842,754 (GRCm39)	V60I	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Dcun1d4	A	G	5: 73,668,495 (GRCm39)	D41G	probably damaging	Het
Dnm1l	T	C	16: 16,147,758 (GRCm39)	S181G	possibly damaging	Het
Dyrk1a	T	G	16: 94,472,221 (GRCm39)	S242A	possibly damaging	Het
Fcgbp	T	A	7: 27,771,068 (GRCm39)		probably benign	Het
Fibcd1	T	C	2: 31,706,604 (GRCm39)	Y409C	probably damaging	Het
Fig4	A	T	10: 41,143,770 (GRCm39)	W230R	probably null	Het
Flt1	T	C	5: 147,519,436 (GRCm39)	S960G	probably benign	Het
Fyb1	A	G	15: 6,649,143 (GRCm39)	S390G	possibly damaging	Het
Gbx2	T	C	1: 89,856,698 (GRCm39)	T231A	probably benign	Het
Gm5852	T	A	3: 93,635,055 (GRCm39)		noncoding transcript	Het
Lmo7	T	C	14: 102,124,909 (GRCm39)	V456A	probably damaging	Het
Mark3	A	G	12: 111,593,541 (GRCm39)	N191S	probably damaging	Het
Or7h8	C	A	9: 20,124,314 (GRCm39)	S223Y	possibly damaging	Het
Pik3c2a	C	T	7: 116,005,126 (GRCm39)	E381K	probably damaging	Het
Pik3r5	A	G	11: 68,383,552 (GRCm39)	D457G	probably benign	Het
Plcg2	T	C	8: 118,311,919 (GRCm39)	S404P	probably damaging	Het
Psd4	T	C	2: 24,291,835 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,132,983 (GRCm39)	D327G	probably null	Het
Rgsl1	C	T	1: 153,679,755 (GRCm39)		probably null	Het
Spart	T	A	3: 55,025,147 (GRCm39)		probably null	Het
Sugp1	A	G	8: 70,495,734 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Usp19	A	G	9: 108,371,057 (GRCm39)	T240A	probably benign	Het
Vash2	A	G	1: 190,710,412 (GRCm39)	V81A	probably benign	Het
Vmn2r41	T	G	7: 8,141,767 (GRCm39)	N566H	probably damaging	Het
Wdr31	A	G	4: 62,377,083 (GRCm39)	I42T	possibly damaging	Het
Zfp292	C	T	4: 34,809,244 (GRCm39)	V1272I	possibly damaging	Het
Zfp638	C	T	6: 83,961,857 (GRCm39)	R1899C	probably damaging	Het

Other mutations in Prr16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Prr16	APN	18	51,436,192 (GRCm39)	missense	possibly damaging	0.82
IGL00951:Prr16	APN	18	51,436,411 (GRCm39)	missense	probably damaging	1.00
IGL01744:Prr16	APN	18	51,436,061 (GRCm39)	missense	possibly damaging	0.73
IGL02833:Prr16	APN	18	51,436,164 (GRCm39)	missense	probably damaging	1.00
LCD18:Prr16	UTSW	18	51,333,396 (GRCm39)	intron	probably benign
R1195:Prr16	UTSW	18	51,435,755 (GRCm39)	missense	probably damaging	1.00
R1195:Prr16	UTSW	18	51,435,755 (GRCm39)	missense	probably damaging	1.00
R1195:Prr16	UTSW	18	51,435,755 (GRCm39)	missense	probably damaging	1.00
R1572:Prr16	UTSW	18	51,436,042 (GRCm39)	missense	probably benign	0.01
R1988:Prr16	UTSW	18	51,436,349 (GRCm39)	missense	probably damaging	1.00
R3436:Prr16	UTSW	18	51,436,195 (GRCm39)	missense	probably benign	0.00
R3685:Prr16	UTSW	18	51,435,892 (GRCm39)	missense	probably damaging	0.99
R4609:Prr16	UTSW	18	51,251,139 (GRCm39)	missense	possibly damaging	0.79
R4626:Prr16	UTSW	18	51,435,911 (GRCm39)	missense	probably damaging	1.00
R5443:Prr16	UTSW	18	51,436,225 (GRCm39)	missense	probably damaging	1.00
R5713:Prr16	UTSW	18	51,435,910 (GRCm39)	missense	probably damaging	1.00
R6525:Prr16	UTSW	18	51,436,227 (GRCm39)	missense	probably benign	0.01
R9619:Prr16	UTSW	18	51,435,797 (GRCm39)	missense	possibly damaging	0.53
Z1176:Prr16	UTSW	18	51,436,222 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16