Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Pde2a'

589698

Institutional Source

Beutler Lab

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101421691-101512827 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101484594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

Ref Sequence

ENSEMBL: ENSMUSP00000147553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084894] [ENSMUST00000163751] [ENSMUST00000166652] [ENSMUST00000209537] [ENSMUST00000210092] [ENSMUST00000210364] [ENSMUST00000211368]

AlphaFold

Q922S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084894
AA Change: D120G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D120G

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	382	2.2e-21	SMART
GAF	404	553	6.11e-38	SMART
HDc	648	817	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163751
AA Change: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D94G

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	386	2.22e-17	SMART
GAF	408	557	6.11e-38	SMART
HDc	652	821	9.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166652
AA Change: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D94G

Domain	Start	End	E-Value	Type
Blast:GAF	57	181	4e-76	BLAST
low complexity region	182	196	N/A	INTRINSIC
GAF	235	382	2.2e-21	SMART
GAF	404	553	6.11e-38	SMART
HDc	648	817	9.04e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209537
AA Change: D104G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000210092

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

probably benign
Transcript: ENSMUST00000211368
AA Change: D94G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	probably benign	Het

Other mutations in Pde2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Pde2a	APN	7	101484589	nonsense	probably null
IGL00731:Pde2a	APN	7	101508099	missense	probably benign	0.04
IGL00807:Pde2a	APN	7	101504412	missense	probably damaging	1.00
IGL01339:Pde2a	APN	7	101507159	missense	probably benign
IGL01503:Pde2a	APN	7	101501936	splice site	probably benign
IGL01646:Pde2a	APN	7	101507711	missense	possibly damaging	0.95
IGL01960:Pde2a	APN	7	101504740	missense	probably benign	0.40
IGL02281:Pde2a	APN	7	101481392	missense	probably benign	0.34
IGL02318:Pde2a	APN	7	101503343	missense	possibly damaging	0.79
IGL02479:Pde2a	APN	7	101501083	missense	probably damaging	1.00
IGL02632:Pde2a	APN	7	101504656	missense	probably damaging	1.00
IGL02725:Pde2a	APN	7	101507218	missense	probably null	0.00
IGL02888:Pde2a	APN	7	101505069	missense	probably damaging	0.98
IGL03027:Pde2a	APN	7	101481420	missense	probably benign	0.01
IGL03114:Pde2a	APN	7	101508683	splice site	probably benign
PIT1430001:Pde2a	UTSW	7	101451477	splice site	probably benign
PIT4131001:Pde2a	UTSW	7	101511154	missense	probably damaging	0.98
PIT4431001:Pde2a	UTSW	7	101501897	missense	probably damaging	1.00
R1170:Pde2a	UTSW	7	101484543	missense	probably benign	0.00
R1298:Pde2a	UTSW	7	101507202	missense	probably benign	0.12
R1300:Pde2a	UTSW	7	101510404	missense	possibly damaging	0.48
R1451:Pde2a	UTSW	7	101421991	nonsense	probably null
R1731:Pde2a	UTSW	7	101501660	missense	probably damaging	1.00
R1863:Pde2a	UTSW	7	101511154	missense	probably damaging	1.00
R2258:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R2259:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R2260:Pde2a	UTSW	7	101484567	missense	probably damaging	1.00
R4179:Pde2a	UTSW	7	101481383	makesense	probably null
R4688:Pde2a	UTSW	7	101502834	missense	probably benign
R4717:Pde2a	UTSW	7	101494672	missense	probably benign	0.00
R4723:Pde2a	UTSW	7	101494618	missense	possibly damaging	0.80
R4758:Pde2a	UTSW	7	101511499	missense	probably damaging	1.00
R4965:Pde2a	UTSW	7	101502933	missense	probably benign	0.01
R5034:Pde2a	UTSW	7	101502024	missense	probably benign	0.01
R5219:Pde2a	UTSW	7	101504604	missense	probably damaging	1.00
R5533:Pde2a	UTSW	7	101505980	missense	probably damaging	0.97
R6083:Pde2a	UTSW	7	101502879	missense	possibly damaging	0.93
R6114:Pde2a	UTSW	7	101511112	critical splice acceptor site	probably null
R6365:Pde2a	UTSW	7	101510363	missense	probably damaging	1.00
R6372:Pde2a	UTSW	7	101481392	missense	probably benign	0.34
R6395:Pde2a	UTSW	7	101501035	missense	probably benign	0.00
R6482:Pde2a	UTSW	7	101501037	missense	probably benign	0.11
R6492:Pde2a	UTSW	7	101500442	missense	possibly damaging	0.71
R6971:Pde2a	UTSW	7	101510313	nonsense	probably null
R7027:Pde2a	UTSW	7	101511597	missense	probably damaging	1.00
R7082:Pde2a	UTSW	7	101508096	missense	probably damaging	1.00
R7107:Pde2a	UTSW	7	101421968	missense	probably benign	0.01
R7142:Pde2a	UTSW	7	101504650	missense	probably damaging	1.00
R7203:Pde2a	UTSW	7	101509944	missense	possibly damaging	0.70
R7231:Pde2a	UTSW	7	101505953	missense	probably damaging	0.99
R7248:Pde2a	UTSW	7	101503390	missense	possibly damaging	0.88
R7570:Pde2a	UTSW	7	101502834	missense	probably benign	0.03
R7658:Pde2a	UTSW	7	101511581	missense	possibly damaging	0.79
R8061:Pde2a	UTSW	7	101503972	missense	probably benign	0.29
R8098:Pde2a	UTSW	7	101421971	missense	probably benign
R8165:Pde2a	UTSW	7	101500448	critical splice donor site	probably null
R8297:Pde2a	UTSW	7	101504673	missense	possibly damaging	0.86
R8513:Pde2a	UTSW	7	101509765	missense	probably damaging	1.00
R8708:Pde2a	UTSW	7	101510381	missense	probably damaging	1.00
R8794:Pde2a	UTSW	7	101505929	missense	possibly damaging	0.89
R9045:Pde2a	UTSW	7	101503291	missense	unknown
R9054:Pde2a	UTSW	7	101507720	missense	probably damaging	1.00
R9344:Pde2a	UTSW	7	101495684	missense	possibly damaging	0.88
R9367:Pde2a	UTSW	7	101511154	missense	probably damaging	1.00
R9590:Pde2a	UTSW	7	101511550	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TTGGCTCACACCTTGGATTGAG -3'
(R):5'- ATTACTTCGCAGTAGACCCAC -3'

Sequencing Primer
(F):5'- GAGTAACAGATTCCTGGATCTCTGC -3'
(R):5'- CCACTTGGGCAGGGAGAC -3'

Posted On

2019-10-24