Mutagenetix > Incidental Mutation

Incidental Mutation 'R6197:Pwwp2a'

502991

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2a

Ensembl Gene

ENSMUSG00000044950

Gene Name

PWWP domain containing 2A

Synonyms

4631424J17Rik, D930040F23Rik

MMRRC Submission

044337-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43572825-43612318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43595423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 196 (D196G)

Ref Sequence

ENSEMBL: ENSMUSP00000091852 (fasta)

Gene Model

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

AlphaFold

Q69Z61

Predicted Effect

probably benign
Transcript: ENSMUST00000061070
AA Change: D196G

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

SMART Domains

Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: D196G

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
AA Change: D196G

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

SMART Domains

Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
AA Change: D196G

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 benign
Transcript: ENSMUST00000109280

SMART Domains

Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

92% (49/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	A	5: 3,630,442 (GRCm39)	Y119*	probably null	Het
Abcb9	C	A	5: 124,209,812 (GRCm39)	E664*	probably null	Het
Adgrl2	T	C	3: 148,564,578 (GRCm39)	D334G	probably damaging	Het
Ak9	T	G	10: 41,193,826 (GRCm39)	C57G	probably damaging	Het
Als2cl	A	G	9: 110,724,952 (GRCm39)	K809E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp11a	A	G	8: 12,896,099 (GRCm39)	I223V	probably benign	Het
Cacna2d3	A	T	14: 28,630,278 (GRCm39)	V1022E	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cd37	A	G	7: 44,886,598 (GRCm39)	C85R	probably damaging	Het
Ces1g	T	C	8: 94,063,764 (GRCm39)	S7G	probably benign	Het
Cltc	T	C	11: 86,611,188 (GRCm39)	N561S	probably benign	Het
Cnbd2	A	G	2: 156,217,494 (GRCm39)	E661G	possibly damaging	Het
Col6a3	A	T	1: 90,750,063 (GRCm39)	F257Y	probably damaging	Het
Cpt1b	T	C	15: 89,309,037 (GRCm39)	Y55C	possibly damaging	Het
Csmd1	A	G	8: 15,976,611 (GRCm39)	V2869A	probably benign	Het
Dnah11	T	C	12: 118,143,482 (GRCm39)	E387G	probably benign	Het
Eny2	T	A	15: 44,292,949 (GRCm39)		probably null	Het
Fbxo10	G	T	4: 45,043,857 (GRCm39)	H655Q	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gpx2	C	T	12: 76,842,068 (GRCm39)	G28S	probably damaging	Het
H2-Q5	G	T	17: 35,613,918 (GRCm39)	A156S	probably benign	Het
Hoxd4	A	G	2: 74,558,807 (GRCm39)	D210G	possibly damaging	Het
Hoxd9	A	G	2: 74,529,166 (GRCm39)	Q256R	probably damaging	Het
Macf1	A	G	4: 123,346,085 (GRCm39)	V2571A	probably damaging	Het
Mtus1	A	G	8: 41,537,074 (GRCm39)	V214A	possibly damaging	Het
Myh1	C	T	11: 67,111,793 (GRCm39)	A1716V	probably benign	Het
Nbeal1	A	G	1: 60,261,287 (GRCm39)	D249G	probably damaging	Het
Nup54	TCTGCTGCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTGCTGCTG	5: 92,578,663 (GRCm39)		probably benign	Het
Or10v9	G	T	19: 11,833,148 (GRCm39)	H56Q	probably damaging	Het
Or4c124	A	T	2: 89,155,677 (GRCm39)	N282K	probably damaging	Het
Or5w17	C	T	2: 87,583,696 (GRCm39)	V214I	probably benign	Het
Or7a37	T	G	10: 78,805,974 (GRCm39)	L164V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,886 (GRCm39)	Y301C	possibly damaging	Het
Prss59	A	G	6: 40,897,939 (GRCm39)	I248T	probably benign	Het
Rarg	A	T	15: 102,150,327 (GRCm39)	C93S	possibly damaging	Het
Rcc1	T	C	4: 132,065,073 (GRCm39)	D150G	possibly damaging	Het
Ripk2	A	G	4: 16,163,330 (GRCm39)	Y23H	probably damaging	Het
Rragc	A	G	4: 123,811,340 (GRCm39)	Y5C	possibly damaging	Het
Rubcnl	G	A	14: 75,269,369 (GRCm39)	G9D	probably damaging	Het
Sephs2	A	T	7: 126,872,073 (GRCm39)	V340E	probably damaging	Het
Slc22a3	C	T	17: 12,677,438 (GRCm39)	M243I	probably benign	Het
Slco6c1	A	G	1: 97,000,518 (GRCm39)		probably null	Het
Sncaip	T	G	18: 53,039,966 (GRCm39)	I308R	probably damaging	Het
Supt16	G	A	14: 52,408,338 (GRCm39)	T869M	probably damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Usp4	C	A	9: 108,248,154 (GRCm39)	Q395K	probably damaging	Het
Usp49	T	A	17: 47,984,272 (GRCm39)	S210T	possibly damaging	Het
Virma	A	G	4: 11,505,498 (GRCm39)	I124M	probably damaging	Het
Vmn1r234	G	A	17: 21,449,589 (GRCm39)	V168I	probably benign	Het
Vnn3	T	A	10: 23,732,187 (GRCm39)	C146S	probably damaging	Het
Ylpm1	A	G	12: 85,088,953 (GRCm39)	D1234G	probably damaging	Het
Zfp617	T	A	8: 72,687,098 (GRCm39)	V476E	probably benign	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
R3437: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
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'- TTGTTACTTTGGAGACAGCAGTAG -3'
(R):5'- TCGCTTAATTTTCCGAGGCG -3'

Sequencing Primer
(F):5'- TTGGAGACAGCAGTAGTTTATTTTAG -3'
(R):5'- TATGTGTCCCTGATAAACAAGGG -3'

Posted On

2018-02-27