Mutagenetix > Incidental Mutation

Incidental Mutation 'R1195:Prr16'

164524

Institutional Source

Beutler Lab

Gene Symbol

Prr16

Ensembl Gene

ENSMUSG00000073565

Gene Name

proline rich 16

Synonyms

5430406M13Rik

MMRRC Submission

039267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1195 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

51250970-51437713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51435755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 78 (D78V)

Ref Sequence

ENSEMBL: ENSMUSP00000112338 (fasta)

Gene Model

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

AlphaFold

A3KMN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000116639
AA Change: D78V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: D78V

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

0.1756

Coding Region Coverage

1x: 99.7%
3x: 98.6%
10x: 92.8%
20x: 76.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	C	A	13: 30,565,901 (GRCm39)	P322Q	probably damaging	Het
Brd1	T	C	15: 88,585,014 (GRCm39)	E940G	probably benign	Het
Cd163	T	A	6: 124,302,209 (GRCm39)		probably benign	Het
Cd28	C	T	1: 60,802,303 (GRCm39)	T74I	possibly damaging	Het
Cntnap2	T	A	6: 46,460,902 (GRCm39)	M646K	probably benign	Het
Cyb5d1	C	T	11: 69,285,797 (GRCm39)		probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dab2ip	T	C	2: 35,608,757 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,235 (GRCm39)	D4063G	probably damaging	Het
Elmod1	T	C	9: 53,843,052 (GRCm39)	Y42C	probably damaging	Het
Hdac5	T	C	11: 102,096,332 (GRCm39)	I310V	probably damaging	Het
Hpx	A	G	7: 105,248,856 (GRCm39)		probably benign	Het
Ighv10-1	A	T	12: 114,443,015 (GRCm39)		probably benign	Het
Igsf3	A	G	3: 101,365,419 (GRCm39)	D1130G	probably benign	Het
Katnip	A	G	7: 125,465,654 (GRCm39)	R1343G	probably damaging	Het
Kdm4d	A	G	9: 14,374,395 (GRCm39)	S488P	probably benign	Het
Lingo2	A	G	4: 35,708,538 (GRCm39)	Y481H	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Map3k20	C	T	2: 72,268,562 (GRCm39)	P523L	probably damaging	Het
Myo9a	A	G	9: 59,802,483 (GRCm39)	D1990G	probably damaging	Het
Niban2	T	C	2: 32,809,815 (GRCm39)	V304A	probably benign	Het
Perp	C	A	10: 18,731,483 (GRCm39)	Y147*	probably null	Het
Rfx7	C	T	9: 72,525,228 (GRCm39)	T806M	probably damaging	Het
Robo2	T	C	16: 73,713,016 (GRCm39)		probably null	Het
Spdl1	T	C	11: 34,710,644 (GRCm39)	Y368C	probably damaging	Het
Sptbn2	G	C	19: 4,795,921 (GRCm39)	R1700P	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tln2	T	G	9: 67,165,848 (GRCm39)	K1000Q	probably damaging	Het
Tmbim7	A	G	5: 3,711,943 (GRCm39)	T63A	probably benign	Het
Tmed11	T	C	5: 108,926,885 (GRCm39)	D129G	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttll6	T	C	11: 96,026,555 (GRCm39)	I113T	probably damaging	Het
Uso1	T	A	5: 92,318,606 (GRCm39)	F210L	probably damaging	Het
Uspl1	T	A	5: 149,131,131 (GRCm39)	V224E	probably benign	Het
Zfp639	G	A	3: 32,573,345 (GRCm39)	V86I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCAGTTCAGGATCAGTCAGGGC -3'
(R):5'- TGCATCAGAGACTGCAACGGAG -3'

Sequencing Primer
(F):5'- AGGATCAGTCAGGGCTTTTG -3'
(R):5'- ACGGAGCCTTGTCCAAGTTAC -3'

Posted On

2014-03-28