Mutagenetix > Incidental Mutation

Incidental Mutation 'R7919:Prr30'

648248

Institutional Source

Beutler Lab

Gene Symbol

Prr30

Ensembl Gene

ENSMUSG00000042888

Gene Name

proline rich 30

Synonyms

1700110M21Rik

Accession Numbers

Essential gene?

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

Stock #

R7919 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101435126-101437766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101436547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

Ref Sequence

ENSEMBL: ENSMUSP00000060206 (fasta)

Gene Model

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

AlphaFold

Q9D9B7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057718
AA Change: N5S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060206
Gene: ENSMUSG00000042888
AA Change: N5S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187304
AA Change: N5S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139590
Gene: ENSMUSG00000042888
AA Change: N5S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	G	3: 137,885,311 (GRCm39)	K95T	probably damaging	Het
9430097D07Rik	T	C	2: 32,464,461 (GRCm39)	T113A	unknown	Het
Abcc2	T	C	19: 43,805,248 (GRCm39)	Y701H	probably damaging	Het
Adcy2	T	A	13: 69,036,091 (GRCm39)	H190L	probably benign	Het
Arhgef15	T	C	11: 68,838,431 (GRCm39)	T623A	probably benign	Het
Armc3	A	G	2: 19,290,906 (GRCm39)	T462A	probably benign	Het
Calhm2	C	T	19: 47,121,447 (GRCm39)	V241M	possibly damaging	Het
Cdc25c	T	C	18: 34,868,429 (GRCm39)	I314V	probably damaging	Het
Cntrl	G	A	2: 35,017,413 (GRCm39)	D407N	probably benign	Het
Dnah5	A	G	15: 28,350,742 (GRCm39)	E2588G	probably damaging	Het
Dnm1	T	A	2: 32,229,990 (GRCm39)	N178Y	probably damaging	Het
Eaf2	T	A	16: 36,630,914 (GRCm39)	E86D	probably damaging	Het
Elf1	C	A	14: 79,798,339 (GRCm39)	D75E	probably benign	Het
Fem1c	T	C	18: 46,657,370 (GRCm39)	T115A	probably damaging	Het
Garnl3	A	G	2: 32,936,611 (GRCm39)	V186A	probably benign	Het
Gatb	T	A	3: 85,511,828 (GRCm39)	S194R	probably damaging	Het
Gm10775	T	A	13: 65,407,913 (GRCm39)	N71K	unknown	Het
Gm19965	T	A	1: 116,749,850 (GRCm39)	C510*	probably null	Het
Hydin	A	G	8: 110,993,971 (GRCm39)	T2A	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jag1	G	A	2: 136,930,366 (GRCm39)	T726M	probably damaging	Het
Kank1	A	G	19: 25,408,439 (GRCm39)	D1306G	probably damaging	Het
Krt26	T	A	11: 99,224,420 (GRCm39)	E366V	probably damaging	Het
Ksr2	A	G	5: 117,899,418 (GRCm39)	E872G	possibly damaging	Het
Med6	G	A	12: 81,620,621 (GRCm39)	R242*	probably null	Het
Meis2	A	G	2: 115,697,788 (GRCm39)	V370A	probably benign	Het
Mta2	C	T	19: 8,926,498 (GRCm39)	R480*	probably null	Het
Mup3	A	T	4: 62,002,829 (GRCm39)	N177K	probably damaging	Het
Myo15a	T	A	11: 60,417,356 (GRCm39)	V3435E	probably damaging	Het
Ncapg	A	G	5: 45,853,390 (GRCm39)	T880A	probably benign	Het
Obox1	A	T	7: 15,290,256 (GRCm39)	K200*	probably null	Het
Or8j3	A	T	2: 86,028,609 (GRCm39)	C162*	probably null	Het
Ovgp1	T	A	3: 105,888,601 (GRCm39)	V319D	probably damaging	Het
Plxdc2	A	T	2: 16,553,036 (GRCm39)	I145F	probably damaging	Het
Ptcd3	T	C	6: 71,880,438 (GRCm39)	Y95C	probably damaging	Het
Rsl1d1	A	G	16: 11,020,297 (GRCm39)	S44P	probably benign	Het
Sh3gl2	A	G	4: 85,273,595 (GRCm39)	E49G	probably benign	Het
Shroom1	A	G	11: 53,354,220 (GRCm39)	T47A	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Stx1b	A	G	7: 127,406,507 (GRCm39)	S281P	probably benign	Het
Tg	A	T	15: 66,555,923 (GRCm39)	I872F	possibly damaging	Het
Ubqln3	C	T	7: 103,790,399 (GRCm39)	A564T	probably benign	Het
Vsnl1	T	C	12: 11,382,087 (GRCm39)	E98G	possibly damaging	Het
Vwf	T	C	6: 125,624,822 (GRCm39)	L1857P		Het
Wars1	C	T	12: 108,847,030 (GRCm39)	E125K	probably benign	Het
Wnt16	G	A	6: 22,291,049 (GRCm39)	S159N	probably benign	Het
Zcchc14	A	G	8: 122,330,912 (GRCm39)	F817S	probably damaging	Het
Zup1	A	G	10: 33,825,108 (GRCm39)	S125P	possibly damaging	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
R1004:Prr30	UTSW	14	101,436,529 (GRCm39)	missense	probably damaging	0.99
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
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'- ACAAAGTCAGAATTTGAGTCCGAAG -3'
(R):5'- AGCTTAGATGCAGGCTCTGG -3'

Sequencing Primer
(F):5'- CCCAGGAGAGTGAGTCTGAGTC -3'
(R):5'- TAGAAGAGGCTGCGTGTCCTC -3'

Posted On

2020-09-15