Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Prr30'

97997

Institutional Source

Beutler Lab

Gene Symbol

Prr30

Ensembl Gene

ENSMUSG00000042888

Gene Name

proline rich 30

Synonyms

1700110M21Rik

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101435126-101437766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101436529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 11 (L11P)

Ref Sequence

ENSEMBL: ENSMUSP00000139590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057718] [ENSMUST00000187304]

AlphaFold

Q9D9B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000057718
AA Change: L11P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060206
Gene: ENSMUSG00000042888
AA Change: L11P

Domain	Start	End	E-Value	Type
Pfam:DUF4679	1	400	8.4e-186	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187304
AA Change: L11P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139590
Gene: ENSMUSG00000042888
AA Change: L11P

Domain	Start	End	E-Value	Type
low complexity region	83	94	N/A	INTRINSIC
low complexity region	123	147	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,042,780 (GRCm39)	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,780,386 (GRCm39)	E453V	probably damaging	Het
Agxt	A	G	1: 93,063,421 (GRCm39)	M108V	possibly damaging	Het
Akap13	T	C	7: 75,337,034 (GRCm39)	I831T	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arid1a	A	G	4: 133,414,586 (GRCm39)	M1215T	unknown	Het
Cd163	G	T	6: 124,302,306 (GRCm39)	D957Y	probably damaging	Het
Ces2e	A	G	8: 105,656,370 (GRCm39)	D200G	probably damaging	Het
Cfap54	T	C	10: 92,902,558 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 113,888,671 (GRCm39)		probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dpp4	T	A	2: 62,162,984 (GRCm39)	Q754L	probably benign	Het
Ece1	A	G	4: 137,653,550 (GRCm39)	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544 (GRCm39)	V779M	possibly damaging	Het
Gatm	C	T	2: 122,440,141 (GRCm39)		probably benign	Het
Gpc2	A	G	5: 138,276,487 (GRCm39)	L213P	probably damaging	Het
Hook1	A	C	4: 95,910,524 (GRCm39)	N713H	probably benign	Het
Kdm5b	T	A	1: 134,516,642 (GRCm39)	I178K	possibly damaging	Het
Mettl9	G	A	7: 120,675,460 (GRCm39)	V287I	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,378,353 (GRCm39)	T3774I	probably benign	Het
Nup58	C	A	14: 60,484,930 (GRCm39)		probably benign	Het
Nxf1	A	T	19: 8,741,681 (GRCm39)	T119S	probably benign	Het
Oaz3	T	A	3: 94,342,350 (GRCm39)	H102L	probably damaging	Het
Or8g2b	T	C	9: 39,751,276 (GRCm39)	F182S	probably benign	Het
Pfpl	A	T	19: 12,407,789 (GRCm39)	Q680L	probably benign	Het
Poli	T	A	18: 70,658,509 (GRCm39)	Q75L	probably benign	Het
Ppp2r3d	C	T	9: 101,075,829 (GRCm39)		probably null	Het
Ptchd4	A	T	17: 42,688,493 (GRCm39)	Y345F	probably benign	Het
Ric1	A	G	19: 29,579,757 (GRCm39)	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,518,225 (GRCm39)		probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Skp1	G	C	11: 52,128,207 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,320,786 (GRCm39)	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,595,763 (GRCm39)	N35S	probably damaging	Het
Tcstv2c	T	A	13: 120,616,558 (GRCm39)	D132E	probably benign	Het
Xrcc5	A	G	1: 72,422,937 (GRCm39)		probably benign	Het
Zfp235	T	A	7: 23,840,169 (GRCm39)	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,133,103 (GRCm39)		probably benign	Het

Other mutations in Prr30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02434:Prr30	APN	14	101,435,804 (GRCm39)	missense	possibly damaging	0.71
IGL02504:Prr30	APN	14	101,436,056 (GRCm39)	missense	probably benign	0.06
IGL02824:Prr30	APN	14	101,435,954 (GRCm39)	missense	probably benign	0.32
IGL02898:Prr30	APN	14	101,435,917 (GRCm39)	missense	probably benign
IGL03333:Prr30	APN	14	101,435,827 (GRCm39)	missense	possibly damaging	0.93
PIT4453001:Prr30	UTSW	14	101,436,371 (GRCm39)	missense	probably benign	0.23
R1950:Prr30	UTSW	14	101,435,377 (GRCm39)	missense	probably benign	0.00
R2290:Prr30	UTSW	14	101,436,211 (GRCm39)	missense	possibly damaging	0.71
R3123:Prr30	UTSW	14	101,436,425 (GRCm39)	missense	probably benign
R4854:Prr30	UTSW	14	101,435,879 (GRCm39)	missense	probably benign
R6796:Prr30	UTSW	14	101,436,380 (GRCm39)	missense	probably benign	0.01
R7919:Prr30	UTSW	14	101,436,547 (GRCm39)	missense	possibly damaging	0.95
R8270:Prr30	UTSW	14	101,435,822 (GRCm39)	missense	possibly damaging	0.93
R8749:Prr30	UTSW	14	101,436,365 (GRCm39)	missense	probably benign	0.12
R9140:Prr30	UTSW	14	101,436,430 (GRCm39)	missense	probably benign	0.01
Z1088:Prr30	UTSW	14	101,435,576 (GRCm39)	missense	probably benign	0.02
Z1177:Prr30	UTSW	14	101,436,068 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTTTGTAAGTCCTGAAGGCGGGAAG -3'
(R):5'- TGCACAGAAGGCAGTCTTGACCAC -3'

Sequencing Primer
(F):5'- ACAAAGTCAGAATTTGAGTCCG -3'
(R):5'- CAGTCTTGACCACCAGCC -3'

Posted On

2014-01-05