Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Pde2a'

99303

Institutional Source

Beutler Lab

Gene Symbol

Pde2a

Ensembl Gene

ENSMUSG00000110195

Gene Name

phosphodiesterase 2A, cGMP-stimulated

Synonyms

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101070905-101162026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101133750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000081956 (fasta)

Gene Model

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

AlphaFold

Q922S4

Predicted Effect

probably benign
Transcript: ENSMUST00000084894
AA Change: E103G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: E103G

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: E77G

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

SMART Domains

Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: E77G

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: E77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: E77G

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: ENSMUST00000209537
AA Change: E87G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209695

Predicted Effect

probably benign
Transcript: ENSMUST00000210092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210100

Predicted Effect

probably benign
Transcript: ENSMUST00000211368
AA Change: E77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211051

Predicted Effect

probably benign
Transcript: ENSMUST00000210364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210348

Meta Mutation Damage Score

0.1829

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Alk	T	C	17: 72,207,729 (GRCm39)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,566,175 (GRCm39)	L452*	probably null	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,368,177 (GRCm39)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem131	A	T	1: 36,873,979 (GRCm39)	Y271*	probably null	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Wdtc1	A	G	4: 133,024,857 (GRCm39)	Y447H	probably damaging	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		probably benign	Het

Other mutations in Pde2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Pde2a	APN	7	101,133,796 (GRCm39)	nonsense	probably null
IGL00731:Pde2a	APN	7	101,157,306 (GRCm39)	missense	probably benign	0.04
IGL00807:Pde2a	APN	7	101,153,619 (GRCm39)	missense	probably damaging	1.00
IGL01339:Pde2a	APN	7	101,156,366 (GRCm39)	missense	probably benign
IGL01503:Pde2a	APN	7	101,151,143 (GRCm39)	splice site	probably benign
IGL01646:Pde2a	APN	7	101,156,918 (GRCm39)	missense	possibly damaging	0.95
IGL01960:Pde2a	APN	7	101,153,947 (GRCm39)	missense	probably benign	0.40
IGL02281:Pde2a	APN	7	101,130,599 (GRCm39)	missense	probably benign	0.34
IGL02318:Pde2a	APN	7	101,152,550 (GRCm39)	missense	possibly damaging	0.79
IGL02479:Pde2a	APN	7	101,150,290 (GRCm39)	missense	probably damaging	1.00
IGL02632:Pde2a	APN	7	101,153,863 (GRCm39)	missense	probably damaging	1.00
IGL02725:Pde2a	APN	7	101,156,425 (GRCm39)	missense	probably null	0.00
IGL02888:Pde2a	APN	7	101,154,276 (GRCm39)	missense	probably damaging	0.98
IGL03027:Pde2a	APN	7	101,130,627 (GRCm39)	missense	probably benign	0.01
IGL03114:Pde2a	APN	7	101,157,890 (GRCm39)	splice site	probably benign
PIT1430001:Pde2a	UTSW	7	101,100,684 (GRCm39)	splice site	probably benign
PIT4131001:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	0.98
PIT4431001:Pde2a	UTSW	7	101,151,104 (GRCm39)	missense	probably damaging	1.00
R1298:Pde2a	UTSW	7	101,156,409 (GRCm39)	missense	probably benign	0.12
R1300:Pde2a	UTSW	7	101,159,611 (GRCm39)	missense	possibly damaging	0.48
R1451:Pde2a	UTSW	7	101,071,198 (GRCm39)	nonsense	probably null
R1731:Pde2a	UTSW	7	101,150,867 (GRCm39)	missense	probably damaging	1.00
R1863:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	1.00
R2258:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R2259:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R2260:Pde2a	UTSW	7	101,133,774 (GRCm39)	missense	probably damaging	1.00
R4179:Pde2a	UTSW	7	101,130,590 (GRCm39)	makesense	probably null
R4688:Pde2a	UTSW	7	101,152,041 (GRCm39)	missense	probably benign
R4717:Pde2a	UTSW	7	101,143,879 (GRCm39)	missense	probably benign	0.00
R4723:Pde2a	UTSW	7	101,143,825 (GRCm39)	missense	possibly damaging	0.80
R4758:Pde2a	UTSW	7	101,160,706 (GRCm39)	missense	probably damaging	1.00
R4965:Pde2a	UTSW	7	101,152,140 (GRCm39)	missense	probably benign	0.01
R5034:Pde2a	UTSW	7	101,151,231 (GRCm39)	missense	probably benign	0.01
R5219:Pde2a	UTSW	7	101,153,811 (GRCm39)	missense	probably damaging	1.00
R5533:Pde2a	UTSW	7	101,155,187 (GRCm39)	missense	probably damaging	0.97
R6083:Pde2a	UTSW	7	101,152,086 (GRCm39)	missense	possibly damaging	0.93
R6114:Pde2a	UTSW	7	101,160,319 (GRCm39)	critical splice acceptor site	probably null
R6365:Pde2a	UTSW	7	101,159,570 (GRCm39)	missense	probably damaging	1.00
R6372:Pde2a	UTSW	7	101,130,599 (GRCm39)	missense	probably benign	0.34
R6395:Pde2a	UTSW	7	101,150,242 (GRCm39)	missense	probably benign	0.00
R6482:Pde2a	UTSW	7	101,150,244 (GRCm39)	missense	probably benign	0.11
R6492:Pde2a	UTSW	7	101,149,649 (GRCm39)	missense	possibly damaging	0.71
R6971:Pde2a	UTSW	7	101,159,520 (GRCm39)	nonsense	probably null
R7027:Pde2a	UTSW	7	101,160,804 (GRCm39)	missense	probably damaging	1.00
R7082:Pde2a	UTSW	7	101,157,303 (GRCm39)	missense	probably damaging	1.00
R7107:Pde2a	UTSW	7	101,071,175 (GRCm39)	missense	probably benign	0.01
R7142:Pde2a	UTSW	7	101,153,857 (GRCm39)	missense	probably damaging	1.00
R7203:Pde2a	UTSW	7	101,159,151 (GRCm39)	missense	possibly damaging	0.70
R7231:Pde2a	UTSW	7	101,155,160 (GRCm39)	missense	probably damaging	0.99
R7248:Pde2a	UTSW	7	101,152,597 (GRCm39)	missense	possibly damaging	0.88
R7570:Pde2a	UTSW	7	101,152,041 (GRCm39)	missense	probably benign	0.03
R7632:Pde2a	UTSW	7	101,133,801 (GRCm39)	missense	possibly damaging	0.64
R7658:Pde2a	UTSW	7	101,160,788 (GRCm39)	missense	possibly damaging	0.79
R8061:Pde2a	UTSW	7	101,153,179 (GRCm39)	missense	probably benign	0.29
R8098:Pde2a	UTSW	7	101,071,178 (GRCm39)	missense	probably benign
R8165:Pde2a	UTSW	7	101,149,655 (GRCm39)	critical splice donor site	probably null
R8297:Pde2a	UTSW	7	101,153,880 (GRCm39)	missense	possibly damaging	0.86
R8513:Pde2a	UTSW	7	101,158,972 (GRCm39)	missense	probably damaging	1.00
R8708:Pde2a	UTSW	7	101,159,588 (GRCm39)	missense	probably damaging	1.00
R8794:Pde2a	UTSW	7	101,155,136 (GRCm39)	missense	possibly damaging	0.89
R9045:Pde2a	UTSW	7	101,152,498 (GRCm39)	missense	unknown
R9054:Pde2a	UTSW	7	101,156,927 (GRCm39)	missense	probably damaging	1.00
R9344:Pde2a	UTSW	7	101,144,891 (GRCm39)	missense	possibly damaging	0.88
R9367:Pde2a	UTSW	7	101,160,361 (GRCm39)	missense	probably damaging	1.00
R9590:Pde2a	UTSW	7	101,160,757 (GRCm39)	missense	probably benign	0.34

Predicted Primers

Posted On

2014-01-15