Mutagenetix > Incidental Mutation

Incidental Mutation 'R5059:Pnrc1'

386502

Institutional Source

Beutler Lab

Gene Symbol

Pnrc1

Ensembl Gene

ENSMUSG00000040128

Gene Name

proline-rich nuclear receptor coactivator 1

Synonyms

Prol2, B4-2, 5730463C12Rik, PRR2

MMRRC Submission

042649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R5059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33245423-33248787 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 33246072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 296 (Q296*)

Ref Sequence

ENSEMBL: ENSMUSP00000040377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049357]

AlphaFold

Q3TWH3

Predicted Effect

probably null
Transcript: ENSMUST00000049357
AA Change: Q296*

SMART Domains

Protein: ENSMUSP00000040377
Gene: ENSMUSG00000040128
AA Change: Q296*

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
low complexity region	77	99	N/A	INTRINSIC
Pfam:PNRC	247	295	7e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155616

Meta Mutation Damage Score

0.9700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,973,637 (GRCm39)	N455I	probably damaging	Het
Alg12	A	G	15: 88,695,659 (GRCm39)	F279S	probably damaging	Het
Angpt4	A	G	2: 151,776,360 (GRCm39)	D296G	probably damaging	Het
Ank1	T	A	8: 23,586,204 (GRCm39)	S437T	probably damaging	Het
Apol7a	G	A	15: 77,274,012 (GRCm39)		probably benign	Het
Arhgef38	T	A	3: 132,843,175 (GRCm39)	Y465F	probably damaging	Het
Atp8a2	T	G	14: 59,928,986 (GRCm39)	T1023P	probably benign	Het
Cdh20	C	A	1: 109,993,430 (GRCm39)	A295E	probably damaging	Het
Cela3b	T	C	4: 137,152,181 (GRCm39)	E92G	probably benign	Het
Cntnap5a	T	C	1: 116,356,224 (GRCm39)	S752P	probably benign	Het
Dlx2	T	C	2: 71,376,585 (GRCm39)	H51R	probably damaging	Het
Dnm2	T	C	9: 21,415,874 (GRCm39)	I736T	probably damaging	Het
Dst	A	G	1: 34,202,427 (GRCm39)	T252A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,658 (GRCm39)	R151G	possibly damaging	Het
Gapdhs	C	T	7: 30,431,410 (GRCm39)	A357T	probably benign	Het
Gon4l	T	A	3: 88,807,319 (GRCm39)	M1671K	probably benign	Het
Gpi1	T	C	7: 33,907,113 (GRCm39)	Y327C	probably damaging	Het
Gucy2g	T	C	19: 55,214,503 (GRCm39)	R542G	probably benign	Het
Hectd3	A	G	4: 116,854,361 (GRCm39)	K308E	possibly damaging	Het
Hip1	A	G	5: 135,478,675 (GRCm39)	F178S	probably damaging	Het
Hydin	A	G	8: 111,232,401 (GRCm39)	D1640G	probably damaging	Het
Il18r1	G	A	1: 40,520,227 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,910,250 (GRCm39)	S23P	possibly damaging	Het
Lactb	T	C	9: 66,882,426 (GRCm39)	E83G	probably benign	Het
Larp4	A	T	15: 99,903,171 (GRCm39)	D414V	probably damaging	Het
Map2k5	T	C	9: 63,164,296 (GRCm39)	H336R	probably benign	Het
Mast4	T	C	13: 102,887,071 (GRCm39)	E1006G	probably damaging	Het
Mbd5	T	C	2: 49,146,467 (GRCm39)	S226P	probably damaging	Het
Micall1	A	T	15: 79,007,034 (GRCm39)		probably benign	Het
Mtpap	T	A	18: 4,375,827 (GRCm39)		probably benign	Het
Or52ae7	A	T	7: 103,119,488 (GRCm39)	K81*	probably null	Het
Or5p58	A	G	7: 107,694,522 (GRCm39)	L85P	probably damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,691,565 (GRCm39)	V386A	probably damaging	Het
Prkcsh	T	A	9: 21,924,046 (GRCm39)	L439Q	probably damaging	Het
Prkdc	T	C	16: 15,655,882 (GRCm39)	L3970P	probably damaging	Het
Ptcd1	G	A	5: 145,089,034 (GRCm39)	P542L	probably benign	Het
Rps6ka5	G	A	12: 100,520,634 (GRCm39)	T631I	probably damaging	Het
Rxfp1	T	C	3: 79,570,619 (GRCm39)	N271S	probably benign	Het
Taf6	A	G	5: 138,177,709 (GRCm39)	M541T	probably benign	Het
Tek	T	A	4: 94,692,551 (GRCm39)	C169S	probably benign	Het
Tgfbr3l	T	A	8: 4,299,343 (GRCm39)		probably null	Het
Trpv3	A	G	11: 73,186,149 (GRCm39)	N647D	probably benign	Het
Ube3c	A	G	5: 29,836,293 (GRCm39)	K638R	probably null	Het
Vmn1r191	G	A	13: 22,363,163 (GRCm39)	A197V	probably damaging	Het
Vmn2r6	T	C	3: 64,445,044 (GRCm39)	T894A	possibly damaging	Het
Vstm4	T	G	14: 32,585,687 (GRCm39)	Y85D	probably damaging	Het
Wnt7a	A	G	6: 91,371,482 (GRCm39)	I160T	probably benign	Het
Zc3h7a	TAGAGAG	TAGAGAGAG	16: 10,978,985 (GRCm39)		probably null	Het
Zfp988	A	T	4: 147,416,372 (GRCm39)	K269*	probably null	Het

Other mutations in Pnrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01464:Pnrc1	APN	4	33,246,395 (GRCm39)	missense	probably benign	0.00
R1733:Pnrc1	UTSW	4	33,246,438 (GRCm39)	missense	probably damaging	0.97
R3848:Pnrc1	UTSW	4	33,246,252 (GRCm39)	missense	probably damaging	1.00
R6298:Pnrc1	UTSW	4	33,246,315 (GRCm39)	missense	probably benign
R7255:Pnrc1	UTSW	4	33,248,045 (GRCm39)	missense	probably benign	0.27
R7353:Pnrc1	UTSW	4	33,248,300 (GRCm39)	missense	probably damaging	1.00
R7830:Pnrc1	UTSW	4	33,248,057 (GRCm39)	missense	probably damaging	1.00
R9105:Pnrc1	UTSW	4	33,246,207 (GRCm39)	nonsense	probably null
R9408:Pnrc1	UTSW	4	33,246,488 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCAGGGCAAAATACATACTTTC -3'
(R):5'- AGCATTTCTAACAGAAGTGAGCC -3'

Sequencing Primer
(F):5'- GTCCTCTCAAGTATGAACAATGTAC -3'
(R):5'- CATTTCTAACAGAAGTGAGCCAAAAG -3'

Posted On

2016-06-06