Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:Prr16'

152981

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 #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

51250970-51437713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51436061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

Ref Sequence

ENSEMBL: ENSMUSP00000112338 (fasta)

Gene Model

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

AlphaFold

A3KMN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116639
AA Change: D180G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: D180G

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	C	7: 12,284,459 (GRCm39)	I102T	possibly damaging	Het
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Copa	A	G	1: 171,940,756 (GRCm39)	E714G	probably benign	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,966 (GRCm39)	S188G	unknown	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt1	T	C	5: 147,508,271 (GRCm39)	N1161S	probably benign	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	probably benign	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
IGL02345:Prr16	APN	18	51,436,301 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04