Mutagenetix > Incidental Mutation

Incidental Mutation 'R5713:Prr16'

451024

Institutional Source

Beutler Lab

Gene Symbol

Prr16

Ensembl Gene

ENSMUSG00000073565

Gene Name

proline rich 16

Synonyms

5430406M13Rik

MMRRC Submission

043335-MU

Accession Numbers

Essential gene?

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

Stock #

R5713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51250970-51437713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51435910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 130 (T130A)

Ref Sequence

ENSEMBL: ENSMUSP00000112338 (fasta)

Gene Model

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

AlphaFold

A3KMN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000116639
AA Change: T130A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: T130A

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

Meta Mutation Damage Score

0.0946

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,889,414 (GRCm39)	Y431*	probably null	Het
Abtb3	A	T	10: 85,487,516 (GRCm39)	I995F	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arid1b	C	A	17: 5,387,091 (GRCm39)	R1515S	probably damaging	Het
Atp5mc3	A	G	2: 73,739,651 (GRCm39)	V63A	probably benign	Het
Bmp6	C	T	13: 38,682,928 (GRCm39)	P473S	probably damaging	Het
Casp3	C	A	8: 47,089,349 (GRCm39)	T199K	probably damaging	Het
Ccl3	C	T	11: 83,540,066 (GRCm39)	C13Y	possibly damaging	Het
Cdc42bpa	T	C	1: 179,911,975 (GRCm39)	S518P	probably benign	Het
Clic3	A	T	2: 25,348,179 (GRCm39)	I109F	probably damaging	Het
Dnah9	T	A	11: 65,916,049 (GRCm39)	D2301V	possibly damaging	Het
Gm26627	A	G	6: 29,507,850 (GRCm39)		probably benign	Het
Gm4887	A	T	7: 104,471,000 (GRCm39)		noncoding transcript	Het
Hc	A	C	2: 34,903,543 (GRCm39)	I1037S	probably damaging	Het
Il2rb	A	G	15: 78,376,048 (GRCm39)	M1T	probably null	Het
Ing5	T	A	1: 93,740,452 (GRCm39)	D124E	probably benign	Het
Jak2	A	G	19: 29,248,793 (GRCm39)	E90G	probably damaging	Het
Kalrn	A	T	16: 33,836,949 (GRCm39)	I522N	probably benign	Het
Lipa	A	T	19: 34,500,832 (GRCm39)	H71Q	probably benign	Het
Lmnb2	C	T	10: 80,741,921 (GRCm39)	V57M	probably damaging	Het
Mllt3	A	T	4: 87,759,448 (GRCm39)	M200K	probably benign	Het
Mtpap	G	A	18: 4,396,280 (GRCm39)	S524N	probably benign	Het
Mup21	C	G	4: 62,068,511 (GRCm39)	E52Q	probably damaging	Het
Nasp	A	G	4: 116,471,558 (GRCm39)	F90L	probably benign	Het
Nr1d1	T	C	11: 98,661,237 (GRCm39)	D343G	probably benign	Het
Otop2	T	A	11: 115,219,870 (GRCm39)	F237I	probably damaging	Het
Pax4	A	G	6: 28,446,184 (GRCm39)	I103T	probably damaging	Het
Pde4a	T	A	9: 21,114,813 (GRCm39)	S430T	probably damaging	Het
Phf20l1	A	G	15: 66,508,669 (GRCm39)	N843D	possibly damaging	Het
Pla2g7	T	A	17: 43,905,183 (GRCm39)	M37K	probably benign	Het
Plcb3	T	C	19: 6,935,060 (GRCm39)	I864V	probably damaging	Het
Rbm24	A	G	13: 46,582,780 (GRCm39)	D233G	probably damaging	Het
Rps29	C	A	12: 69,205,502 (GRCm39)	R32L	probably benign	Het
Serpind1	A	G	16: 17,154,851 (GRCm39)	E226G	probably damaging	Het
Siglecg	A	T	7: 43,058,226 (GRCm39)	I38F	probably damaging	Het
Slc26a8	T	A	17: 28,880,853 (GRCm39)	M308L	probably benign	Het
Supv3l1	A	G	10: 62,266,283 (GRCm39)	V631A	possibly damaging	Het
Tcf12	T	C	9: 71,792,545 (GRCm39)	*58W	probably null	Het
Trgc2	T	A	13: 19,491,515 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,293,515 (GRCm39)	V203E	possibly damaging	Het
Vmn2r108	A	G	17: 20,691,290 (GRCm39)	L411P	probably damaging	Het
Zfp874a	A	T	13: 67,597,476 (GRCm39)	D42E	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
IGL01744:Prr16	APN	18	51,436,061 (GRCm39)	missense	possibly damaging	0.73
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACCAGATTGACACCCTG -3'
(R):5'- ATCAGAGACTGCAACGGAGC -3'

Sequencing Primer
(F):5'- CCTCTGATCTACAGCTGGAAGATG -3'
(R):5'- ACGGAGCCTTGTCCAAGTTACTG -3'

Posted On

2017-01-03