Mutagenetix > Incidental Mutation

Incidental Mutation 'R6426:Prr19'

518326

Institutional Source

Beutler Lab

Gene Symbol

Prr19

Ensembl Gene

ENSMUSG00000058741

Gene Name

proline rich 19

Synonyms

EG623131

MMRRC Submission

044565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25000836-25003557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25003262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 292 (D292G)

Ref Sequence

ENSEMBL: ENSMUSP00000104047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080288] [ENSMUST00000108409] [ENSMUST00000119703]

AlphaFold

B2RW88

Predicted Effect

probably damaging
Transcript: ENSMUST00000080288
AA Change: D292G

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

SMART Domains

Protein: ENSMUSP00000104047
Gene: ENSMUSG00000058741
AA Change: D292G

Domain	Start	End	E-Value	Type
Pfam:Pro-rich_19	1	366	3.3e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108409

SMART Domains

Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:GpcrRhopsn4	157	411	7.5e-81	PFAM
low complexity region	486	503	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119703

SMART Domains

Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:GpcrRhopsn4	143	397	4.3e-81	PFAM
low complexity region	478	493	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140016

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Adcyap1r1	T	G	6: 55,471,172 (GRCm39)	L365R	probably damaging	Het
Adgre4	A	G	17: 56,109,196 (GRCm39)	N401S	probably benign	Het
Adgrl3	A	T	5: 81,874,717 (GRCm39)	S1073C	probably damaging	Het
Bicral	G	A	17: 47,141,005 (GRCm39)	P26S	probably benign	Het
Cst3	G	T	2: 148,713,917 (GRCm39)	T129K	probably benign	Het
Cyp26a1	T	C	19: 37,687,753 (GRCm39)	M287T	probably benign	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Dmxl1	T	C	18: 49,997,645 (GRCm39)	V611A	probably damaging	Het
Fam149a	C	A	8: 45,834,611 (GRCm39)	A63S	probably benign	Het
Fhip2a	T	G	19: 57,371,610 (GRCm39)	L574R	probably damaging	Het
Foxred2	C	G	15: 77,837,508 (GRCm39)	A243P	probably damaging	Het
Gm3604	A	T	13: 62,517,436 (GRCm39)	D307E	probably damaging	Het
Lca5	G	A	9: 83,277,707 (GRCm39)	Q546*	probably null	Het
Mfsd4b1	T	C	10: 39,882,073 (GRCm39)	T71A	possibly damaging	Het
Onecut1	A	G	9: 74,769,631 (GRCm39)	H18R	probably damaging	Het
Or5a1	A	G	19: 12,097,212 (GRCm39)	V288A	probably benign	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Pcsk5	G	T	19: 17,595,093 (GRCm39)	Q414K	probably damaging	Het
Ppp4r2	T	C	6: 100,829,558 (GRCm39)	Y77H	probably damaging	Het
Pum1	G	A	4: 130,481,283 (GRCm39)	R464H	probably damaging	Het
Rhoq	G	T	17: 87,302,442 (GRCm39)	R126L	probably damaging	Het
Sdhb	A	G	4: 140,701,029 (GRCm39)	K162E	probably benign	Het
Sema3d	G	A	5: 12,613,231 (GRCm39)	G436E	probably damaging	Het
Sf3b1	A	T	1: 55,038,814 (GRCm39)	M823K	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Syne2	G	T	12: 75,969,857 (GRCm39)	E977D	probably null	Het
Tns2	A	T	15: 102,015,472 (GRCm39)	M125L	possibly damaging	Het
Ttn	T	A	2: 76,542,313 (GRCm39)	K31812*	probably null	Het
Ube4b	G	A	4: 149,510,453 (GRCm39)		probably benign	Het
Vmn2r91	G	A	17: 18,355,865 (GRCm39)		probably null	Het
Zbtb49	G	A	5: 38,360,431 (GRCm39)		probably null	Het
Zswim8	T	A	14: 20,768,594 (GRCm39)	S1035T	probably damaging	Het

Other mutations in Prr19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02202:Prr19	APN	7	25,003,462 (GRCm39)	missense	probably damaging	1.00
R3500:Prr19	UTSW	7	25,002,692 (GRCm39)	missense	probably damaging	1.00
R5547:Prr19	UTSW	7	25,003,388 (GRCm39)	missense	probably damaging	1.00
R7362:Prr19	UTSW	7	25,003,343 (GRCm39)	missense	probably damaging	0.99
R9383:Prr19	UTSW	7	25,002,335 (GRCm39)	missense	probably damaging	0.96
X0058:Prr19	UTSW	7	25,002,659 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAAGTTCCTGAGCATGCTC -3'
(R):5'- CTCTGGACTGCTCTGAGTTAC -3'

Sequencing Primer
(F):5'- TTCCTGAGCATGCTCCACGG -3'
(R):5'- TGCTCTGAGTTACTACCCAGGAGAG -3'

Posted On

2018-05-24