Mutagenetix > Incidental Mutation

Incidental Mutation 'R3437:Pwwp2a'

267245

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2a

Ensembl Gene

ENSMUSG00000044950

Gene Name

PWWP domain containing 2A

Synonyms

4631424J17Rik, D930040F23Rik

MMRRC Submission

040655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43572825-43612318 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43597015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 452 (Q452*)

Ref Sequence

ENSEMBL: ENSMUSP00000104903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061070] [ENSMUST00000094294] [ENSMUST00000109280]

AlphaFold

Q69Z61

Predicted Effect

probably null
Transcript: ENSMUST00000061070
AA Change: Q727*

SMART Domains

Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: Q727*

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	488	509	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	566	576	N/A	INTRINSIC
low complexity region	588	598	N/A	INTRINSIC
Pfam:PWWP	628	714	5.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094294

SMART Domains

Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109280
AA Change: Q452*

SMART Domains

Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: Q452*

Domain	Start	End	E-Value	Type
low complexity region	213	234	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	291	301	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC
Pfam:PWWP	353	438	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129229

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,616,253 (GRCm39)	L127R	probably null	Het
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Amy1	G	A	3: 113,349,658 (GRCm39)	A504V	probably damaging	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Avl9	T	C	6: 56,713,612 (GRCm39)	V290A	probably benign	Het
Bad	A	G	19: 6,919,799 (GRCm39)	R37G	probably benign	Het
Bicra	T	C	7: 15,723,223 (GRCm39)	D98G	possibly damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Col4a4	G	A	1: 82,474,889 (GRCm39)	T650M	unknown	Het
Cyp11b2	T	C	15: 74,727,298 (GRCm39)	R128G	probably benign	Het
Dst	T	C	1: 34,229,303 (GRCm39)	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,178,595 (GRCm39)	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,779,217 (GRCm39)	H221Q	probably benign	Het
Homer1	T	C	13: 93,502,929 (GRCm39)		probably benign	Het
Kit	A	G	5: 75,806,565 (GRCm39)	D690G	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mc3r	C	T	2: 172,091,588 (GRCm39)	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,239,314 (GRCm39)	L204W	probably damaging	Het
Mroh1	C	T	15: 76,317,808 (GRCm39)	T839I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or5af1	A	T	11: 58,722,150 (GRCm39)	M57L	probably damaging	Het
P4ha3	C	T	7: 99,934,831 (GRCm39)	A31V	possibly damaging	Het
Plch2	A	G	4: 155,075,470 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Pter	T	A	2: 13,005,805 (GRCm39)	L326H	probably benign	Het
Slc8a2	T	G	7: 15,892,810 (GRCm39)	V824G	probably damaging	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Tro	G	A	X: 149,429,252 (GRCm39)		probably benign	Het
Uspl1	T	A	5: 149,151,507 (GRCm39)		probably benign	Het
Uty	A	G	Y: 1,158,336 (GRCm39)	I522T	probably benign	Het
Vmn1r120	A	C	7: 20,787,582 (GRCm39)	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,478,362 (GRCm39)	D39V	probably damaging	Het
Washc4	T	A	10: 83,405,866 (GRCm39)	I454N	probably benign	Het
Wnt16	T	C	6: 22,298,133 (GRCm39)	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfy1	A	T	Y: 726,357 (GRCm39)	D469E	possibly damaging	Het

Other mutations in Pwwp2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Pwwp2a	APN	11	43,596,955 (GRCm39)	missense	possibly damaging	0.46
IGL02227:Pwwp2a	APN	11	43,596,448 (GRCm39)	missense	possibly damaging	0.93
IGL02653:Pwwp2a	APN	11	43,596,862 (GRCm39)	missense	possibly damaging	0.69
IGL03258:Pwwp2a	APN	11	43,595,392 (GRCm39)	missense	probably benign	0.21
R0376:Pwwp2a	UTSW	11	43,595,499 (GRCm39)	missense	probably benign	0.00
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R2127:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2128:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2173:Pwwp2a	UTSW	11	43,573,313 (GRCm39)	missense	probably benign	0.01
R3077:Pwwp2a	UTSW	11	43,596,212 (GRCm39)	missense	probably damaging	1.00
R3436:Pwwp2a	UTSW	11	43,597,015 (GRCm39)	nonsense	probably null
R4427:Pwwp2a	UTSW	11	43,573,344 (GRCm39)	missense	possibly damaging	0.52
R5597:Pwwp2a	UTSW	11	43,573,422 (GRCm39)	missense	probably benign	0.34
R5672:Pwwp2a	UTSW	11	43,596,968 (GRCm39)	missense	probably damaging	1.00
R6132:Pwwp2a	UTSW	11	43,596,455 (GRCm39)	missense	probably damaging	1.00
R6197:Pwwp2a	UTSW	11	43,595,423 (GRCm39)	missense	probably benign	0.00
R6563:Pwwp2a	UTSW	11	43,596,592 (GRCm39)	missense	possibly damaging	0.88
R6709:Pwwp2a	UTSW	11	43,595,554 (GRCm39)	missense	probably damaging	1.00
R7049:Pwwp2a	UTSW	11	43,597,018 (GRCm39)	missense	probably damaging	0.99
R7305:Pwwp2a	UTSW	11	43,607,878 (GRCm39)	missense	probably damaging	0.98
R7351:Pwwp2a	UTSW	11	43,573,107 (GRCm39)	missense	probably benign	0.12
R7767:Pwwp2a	UTSW	11	43,596,696 (GRCm39)	missense	probably damaging	1.00
R8921:Pwwp2a	UTSW	11	43,596,344 (GRCm39)	missense	probably damaging	0.96
R9144:Pwwp2a	UTSW	11	43,596,721 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CATGGTTTGCATCTCCAACCAC -3'
(R):5'- TGGCAATTAACAGTCCCTGC -3'

Sequencing Primer
(F):5'- GGTTTGCATCTCCAACCACATCTTC -3'
(R):5'- ACAGTCCCTGCAAAAATTGTTTC -3'

Posted On

2015-02-18