Mutagenetix > Incidental Mutation

Incidental Mutation 'R3981:Prb1b'

351167

Institutional Source

Beutler Lab

Gene Symbol

Prb1b

Ensembl Gene

ENSMUSG00000107874

Gene Name

proline-rich protein BstNI subfamily 1B

Synonyms

MP5, Prpmp5

MMRRC Submission

040943-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132288553-132291706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132289657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 56 (P56S)

Ref Sequence

ENSEMBL: ENSMUSP00000047347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048686]

AlphaFold

E9PXN1

Predicted Effect

unknown
Transcript: ENSMUST00000048686
AA Change: P56S

SMART Domains

Protein: ENSMUSP00000047347
Gene: ENSMUSG00000107874
AA Change: P56S

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	136	2.2e-36	PFAM
Pfam:Pro-rich	84	169	6.1e-17	PFAM
Pfam:Pro-rich	131	182	2.5e-10	PFAM
Pfam:Pro-rich	171	228	4.7e-10	PFAM
Pfam:Pro-rich	222	290	1.1e-11	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,482,407 (GRCm39)	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,109,058 (GRCm39)	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,609,314 (GRCm39)	E18G	probably benign	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cep295	G	T	9: 15,228,363 (GRCm39)		probably benign	Het
Cep89	A	G	7: 35,137,808 (GRCm39)	R731G	probably damaging	Het
Chrnb3	C	T	8: 27,884,034 (GRCm39)	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Clca4b	T	C	3: 144,631,797 (GRCm39)	K236R	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cry1	A	T	10: 84,982,456 (GRCm39)	Y297N	probably damaging	Het
Defb38	A	G	8: 19,076,483 (GRCm39)		probably null	Het
Dlgap1	A	G	17: 70,823,780 (GRCm39)	K255R	probably damaging	Het
Erich6	T	C	3: 58,544,125 (GRCm39)	E154G	probably benign	Het
Esf1	G	A	2: 140,000,476 (GRCm39)	P437S	probably benign	Het
Fkbp7	A	C	2: 76,493,601 (GRCm39)	N197K	probably damaging	Het
Fsip2	T	A	2: 82,789,006 (GRCm39)	D342E	probably benign	Het
Gbx1	T	C	5: 24,731,213 (GRCm39)	D201G	probably benign	Het
Gm15056	T	A	8: 21,390,957 (GRCm39)	K25N	possibly damaging	Het
Grb7	T	G	11: 98,345,391 (GRCm39)		probably benign	Het
H2-M3	C	T	17: 37,582,021 (GRCm39)	A159V	probably damaging	Het
Hcar1	T	C	5: 124,016,683 (GRCm39)	N336S	probably benign	Het
Ift122	T	C	6: 115,890,882 (GRCm39)	V807A	probably benign	Het
Maml2	T	C	9: 13,532,364 (GRCm39)	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Mras	T	C	9: 99,293,469 (GRCm39)	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,367,512 (GRCm39)	C2274R	possibly damaging	Het
Or8j3c	T	A	2: 86,253,186 (GRCm39)	Y278F	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Ros1	G	A	10: 51,996,974 (GRCm39)	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,830,248 (GRCm39)	R225G	probably null	Het
Slc7a11	C	A	3: 50,382,223 (GRCm39)	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,182,925 (GRCm39)	T156A	possibly damaging	Het
Spata31g1	C	T	4: 42,971,534 (GRCm39)	T289I	probably damaging	Het
Spmip9	T	C	6: 70,890,283 (GRCm39)	N170D	possibly damaging	Het
Stxbp5	T	C	10: 9,665,060 (GRCm39)		probably benign	Het
Tec	T	A	5: 72,980,942 (GRCm39)		probably benign	Het
Vps16	T	C	2: 130,284,514 (GRCm39)	W728R	possibly damaging	Het
Xirp1	T	C	9: 119,846,810 (GRCm39)	E691G	probably damaging	Het
Zfp605	T	C	5: 110,275,604 (GRCm39)	S241P	probably damaging	Het
Zfp839	G	A	12: 110,832,765 (GRCm39)	G561D	probably damaging	Het

Other mutations in Prb1b

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01392:Prb1b	APN	6	132,289,383 (GRCm39)	missense	unknown
IGL02259:Prb1b	APN	6	132,289,637 (GRCm39)	missense	unknown
IGL02434:Prb1b	APN	6	132,289,339 (GRCm39)	missense	unknown
IGL03238:Prb1b	APN	6	132,289,308 (GRCm39)	missense	unknown
R0971:Prb1b	UTSW	6	132,290,618 (GRCm39)	missense	unknown
R1900:Prb1b	UTSW	6	132,291,661 (GRCm39)	missense	unknown
R3800:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R3951:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R3952:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R4083:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R4348:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4351:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4352:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4353:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R6190:Prb1b	UTSW	6	132,289,692 (GRCm39)	missense	unknown
R7001:Prb1b	UTSW	6	132,289,527 (GRCm39)	missense	unknown
R9023:Prb1b	UTSW	6	132,289,174 (GRCm39)	frame shift	probably null
R9028:Prb1b	UTSW	6	132,289,618 (GRCm39)	missense	unknown
R9193:Prb1b	UTSW	6	132,288,996 (GRCm39)	missense	unknown
R9256:Prb1b	UTSW	6	132,288,972 (GRCm39)	missense	unknown
R9388:Prb1b	UTSW	6	132,289,437 (GRCm39)	missense	unknown
R9644:Prb1b	UTSW	6	132,289,218 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGGTTTCCAGGCCTAAGGG -3'
(R):5'- TTTGCACAGCATTTAAGGACG -3'

Sequencing Primer
(F):5'- TAAGGGGACTCTGTGGGCC -3'
(R):5'- TGCACAGCATTTAAGGACGAATACTC -3'

Posted On

2015-10-08