Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Pde12'

228509

Institutional Source

Beutler Lab

Gene Symbol

Pde12

Ensembl Gene

ENSMUSG00000043702

Gene Name

phosphodiesterase 12

Synonyms

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26659958-26669883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26668880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 225 (I225V)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052932]

AlphaFold

Q3TIU4

Predicted Effect

probably benign
Transcript: ENSMUST00000052932
AA Change: I225V

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

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: I225V

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC
Pfam:Exo_endo_phos	297	598	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167376

SMART Domains

Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
Pfam:Arf	1	60	4.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184349

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	G	A	6: 41,032,381 (GRCm38)	T173I	probably benign	Het
Adgrf3	G	A	5: 30,199,491 (GRCm38)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,428,586 (GRCm38)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,660,637 (GRCm38)	L42F	probably damaging	Het
Alas1	T	C	9: 106,241,290 (GRCm38)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,443,750 (GRCm38)		probably benign	Het
Als2cl	T	C	9: 110,885,438 (GRCm38)	V118A	probably benign	Het
Ano1	G	C	7: 144,611,390 (GRCm38)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,188,752 (GRCm38)		probably null	Het
Atf6b	A	T	17: 34,648,575 (GRCm38)		probably null	Het
Atf7ip	T	G	6: 136,609,348 (GRCm38)		probably benign	Het
Atp2b4	G	T	1: 133,726,537 (GRCm38)	Q777K	probably benign	Het
Baz2a	T	A	10: 128,113,578 (GRCm38)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,455,493 (GRCm38)		probably benign	Het
Cage1	A	G	13: 38,023,380 (GRCm38)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,740 (GRCm38)	N555K	probably benign	Het
Cenpj	G	A	14: 56,563,955 (GRCm38)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,519,261 (GRCm38)		probably null	Het
Cfap54	A	T	10: 92,942,979 (GRCm38)		probably benign	Het
Cgref1	T	G	5: 30,933,645 (GRCm38)	D275A	possibly damaging	Het
Clgn	A	C	8: 83,399,978 (GRCm38)	N103H	probably benign	Het
Corin	A	G	5: 72,316,051 (GRCm38)	V905A	possibly damaging	Het
Csta1	A	C	16: 36,122,322 (GRCm38)	D72E	probably benign	Het
Cul5	A	T	9: 53,667,156 (GRCm38)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 131,106,170 (GRCm38)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,249,853 (GRCm38)		probably null	Het
Enoph1	A	G	5: 100,059,219 (GRCm38)	D55G	probably damaging	Het
Fam160b2	A	G	14: 70,585,049 (GRCm38)	V744A	possibly damaging	Het
Fat4	T	A	3: 38,891,170 (GRCm38)	M1404K	possibly damaging	Het
Foxi2	G	T	7: 135,410,677 (GRCm38)	G98V	probably damaging	Het
Galr2	T	C	11: 116,282,939 (GRCm38)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,109,954 (GRCm38)	M1V	probably null	Het
Gm15446	C	T	5: 109,942,496 (GRCm38)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm38)	I153N	probably benign	Het
Grip1	A	G	10: 120,038,698 (GRCm38)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,187,909 (GRCm38)	D192E	probably benign	Het
Herc2	T	A	7: 56,163,897 (GRCm38)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,984,123 (GRCm38)	D256G	probably benign	Het
Il7	A	T	3: 7,573,915 (GRCm38)	N130K	probably damaging	Het
Irf2	A	T	8: 46,807,345 (GRCm38)	N104I	probably damaging	Het
Kat6a	A	G	8: 22,939,305 (GRCm38)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,698,002 (GRCm38)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,613,214 (GRCm38)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,725,721 (GRCm38)	E209G	probably damaging	Het
Lama3	A	T	18: 12,528,333 (GRCm38)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,785,713 (GRCm38)	E65*	probably null	Het
Mphosph10	T	A	7: 64,376,751 (GRCm38)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,549,333 (GRCm38)	E204G	probably damaging	Het
Msl3l2	T	A	10: 56,115,944 (GRCm38)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,454,179 (GRCm38)	K225*	probably null	Het
Nf1	T	C	11: 79,556,723 (GRCm38)	V435A	probably damaging	Het
Nid1	A	C	13: 13,500,473 (GRCm38)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,557,362 (GRCm38)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,139,860 (GRCm38)	M359K	probably null	Het
Nox1	T	C	X: 134,095,244 (GRCm38)		probably benign	Het
Ogdhl	G	A	14: 32,332,884 (GRCm38)	R263K	probably damaging	Het
Olfr1388	T	A	11: 49,444,451 (GRCm38)	V200E	probably damaging	Het
Olfr293	A	T	7: 86,664,383 (GRCm38)	K240N	probably damaging	Het
Pbsn	T	C	X: 77,847,976 (GRCm38)	K72E	probably damaging	Het
Ppt2	A	T	17: 34,622,844 (GRCm38)		probably benign	Het
Prl3a1	A	G	13: 27,270,144 (GRCm38)	D35G	probably benign	Het
Ptprk	T	A	10: 28,566,603 (GRCm38)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,323 (GRCm38)		probably benign	Het
Rab3c	A	G	13: 110,260,516 (GRCm38)	V72A	probably damaging	Het
Rbms2	A	G	10: 128,137,518 (GRCm38)	S251P	probably benign	Het
Rfwd3	A	G	8: 111,297,495 (GRCm38)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,139,623 (GRCm38)	Y211F	probably benign	Het
Saal1	T	C	7: 46,699,456 (GRCm38)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,665,716 (GRCm38)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,854,332 (GRCm38)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,260,785 (GRCm38)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,156,871 (GRCm38)	C81*	probably null	Het
Sgpp2	T	A	1: 78,416,951 (GRCm38)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,683,784 (GRCm38)	T40S	probably damaging	Het
Sik1	A	G	17: 31,848,797 (GRCm38)	S435P	probably benign	Het
Slc7a3	A	G	X: 101,080,767 (GRCm38)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,207 (GRCm38)	F517S	probably damaging	Het
Spata13	A	C	14: 60,759,591 (GRCm38)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,254,763 (GRCm38)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,787,332 (GRCm38)	S652T	probably benign	Het
Stom	A	G	2: 35,316,025 (GRCm38)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,535,033 (GRCm38)	Y18H	probably damaging	Het
Tgm4	T	C	9: 123,061,770 (GRCm38)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,836,333 (GRCm38)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,369,292 (GRCm38)	I457N	probably damaging	Het
Trim12c	A	G	7: 104,348,191 (GRCm38)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,737,693 (GRCm38)	D1849E	probably benign	Het
Ubap2l	A	T	3: 90,031,376 (GRCm38)		probably benign	Het
Ush2a	T	G	1: 188,381,549 (GRCm38)		probably null	Het
Usp17la	A	C	7: 104,861,171 (GRCm38)	T328P	probably damaging	Het
Ust	A	G	10: 8,207,566 (GRCm38)	Y349H	probably damaging	Het
V1rd19	A	T	7: 24,003,834 (GRCm38)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,612,202 (GRCm38)	M123L	probably benign	Het
Vps13c	A	T	9: 67,860,833 (GRCm38)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,758,949 (GRCm38)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,397,024 (GRCm38)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,704,434 (GRCm38)	S416P	possibly damaging	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Pde12	APN	14	26,666,464 (GRCm38)	unclassified	probably benign
IGL02306:Pde12	APN	14	26,668,378 (GRCm38)	missense	possibly damaging	0.83
IGL02630:Pde12	APN	14	26,666,397 (GRCm38)	missense	probably damaging	1.00
IGL02830:Pde12	APN	14	26,668,585 (GRCm38)	missense	probably damaging	1.00
IGL03268:Pde12	APN	14	26,668,459 (GRCm38)	missense	probably benign	0.32
R1727:Pde12	UTSW	14	26,668,867 (GRCm38)	missense	probably benign	0.02
R2057:Pde12	UTSW	14	26,668,880 (GRCm38)	missense	probably benign
R2510:Pde12	UTSW	14	26,665,526 (GRCm38)	makesense	probably null
R4174:Pde12	UTSW	14	26,668,989 (GRCm38)	missense	probably benign	0.00
R5121:Pde12	UTSW	14	26,669,422 (GRCm38)	nonsense	probably null
R5190:Pde12	UTSW	14	26,666,377 (GRCm38)	critical splice donor site	probably null
R5387:Pde12	UTSW	14	26,666,453 (GRCm38)	missense	probably benign	0.00
R5847:Pde12	UTSW	14	26,665,631 (GRCm38)	missense	possibly damaging	0.96
R5987:Pde12	UTSW	14	26,669,098 (GRCm38)	missense	probably benign	0.02
R7495:Pde12	UTSW	14	26,668,839 (GRCm38)	missense	probably benign	0.19
R8021:Pde12	UTSW	14	26,665,699 (GRCm38)	nonsense	probably null
R8865:Pde12	UTSW	14	26,669,125 (GRCm38)	missense	possibly damaging	0.51
R8898:Pde12	UTSW	14	26,669,422 (GRCm38)	missense	probably benign	0.22
R9300:Pde12	UTSW	14	26,665,776 (GRCm38)	missense	probably damaging	0.98
R9331:Pde12	UTSW	14	26,668,673 (GRCm38)	missense	probably benign
R9604:Pde12	UTSW	14	26,668,853 (GRCm38)	missense	possibly damaging	0.63
R9739:Pde12	UTSW	14	26,665,602 (GRCm38)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTGCCAGGATGTTGTAGGAG -3'
(R):5'- AGTTGCCGCGCTACATCATG -3'

Sequencing Primer
(F):5'- GGATGAAAGAGTCCTCCGTCAC -3'
(R):5'- GCTACATCATGGCTGGCTTC -3'

Posted On

2014-09-17