Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01464:Pnrc1'

88057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnrc1

Ensembl Gene

ENSMUSG00000040128

Gene Name

proline-rich nuclear receptor coactivator 1

Synonyms

Prol2, B4-2, 5730463C12Rik, PRR2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL01464

Quality Score

Status

Chromosome

Chromosomal Location

33245423-33248787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33246395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 188 (Y188C)

Ref Sequence

ENSEMBL: ENSMUSP00000040377 (fasta)

Gene Model

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

AlphaFold

Q3TWH3

Predicted Effect

probably benign
Transcript: ENSMUST00000049357
AA Change: Y188C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040377
Gene: ENSMUSG00000040128
AA Change: Y188C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	C	A	1: 165,374,156 (GRCm39)	H748Q	probably damaging	Het
Aebp1	T	C	11: 5,819,822 (GRCm39)	V329A	possibly damaging	Het
Ankk1	T	C	9: 49,327,272 (GRCm39)	T636A	probably benign	Het
Apoh	A	T	11: 108,286,716 (GRCm39)	I47F	probably damaging	Het
Atg9a	A	G	1: 75,167,010 (GRCm39)	S14P	probably damaging	Het
Calb1	T	A	4: 15,881,485 (GRCm39)		probably benign	Het
Ccdc121rt3	A	G	5: 112,503,399 (GRCm39)	S102P	possibly damaging	Het
Cd86	T	C	16: 36,441,315 (GRCm39)	S51G	probably benign	Het
Ctsll3	C	T	13: 60,948,134 (GRCm39)	G181D	probably damaging	Het
Elmod2	G	A	8: 84,043,421 (GRCm39)		probably benign	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Greb1	T	C	12: 16,764,827 (GRCm39)	I435M	probably damaging	Het
Itpr1	A	G	6: 108,363,688 (GRCm39)	D770G	possibly damaging	Het
Kmt2c	G	A	5: 25,557,242 (GRCm39)	T1155I	possibly damaging	Het
Lrp2	T	C	2: 69,302,783 (GRCm39)	D2982G	probably damaging	Het
Map1b	C	T	13: 99,569,251 (GRCm39)	V1157I	unknown	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Nlrp9b	T	A	7: 19,796,580 (GRCm39)	N976K	probably benign	Het
Nos1	T	C	5: 118,081,257 (GRCm39)	F1153S	probably damaging	Het
Polr3a	A	C	14: 24,520,749 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,083,787 (GRCm39)	T512A	possibly damaging	Het
Rhbdf2	C	T	11: 116,491,734 (GRCm39)	G574S	probably benign	Het
Rnf123	T	C	9: 107,929,501 (GRCm39)	D1217G	probably damaging	Het
Slc19a2	T	C	1: 164,088,430 (GRCm39)	S92P	probably damaging	Het
Sycp2	A	T	2: 178,043,425 (GRCm39)	I139N	probably damaging	Het
Vmn2r91	A	G	17: 18,327,864 (GRCm39)	N486S	probably null	Het
Xpo1	T	A	11: 23,217,703 (GRCm39)	H56Q	probably damaging	Het
Zbtb44	T	A	9: 30,965,580 (GRCm39)	L330H	probably damaging	Het

Other mutations in Pnrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5059:Pnrc1	UTSW	4	33,246,072 (GRCm39)	nonsense	probably null
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

Posted On

2013-11-18