Mutagenetix > Incidental Mutation

Incidental Mutation 'R9331:Pde12'

706870

Institutional Source

Beutler Lab

Gene Symbol

Pde12

Ensembl Gene

ENSMUSG00000043702

Gene Name

phosphodiesterase 12

Synonyms

E430028B21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9331 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26381113-26390823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26389828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 294 (I294V)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

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

AlphaFold

Q3TIU4

Predicted Effect

probably benign
Transcript: ENSMUST00000052932
AA Change: I294V

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

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: I294V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,616,324 (GRCm39)	E922G	probably benign	Het
Abca8a	A	G	11: 109,917,154 (GRCm39)	L1615P	probably damaging	Het
Actrt3	T	C	3: 30,652,050 (GRCm39)	D348G	probably damaging	Het
Adam3	A	G	8: 25,177,951 (GRCm39)	M654T	probably benign	Het
Adamts8	A	T	9: 30,862,770 (GRCm39)	H325L	probably damaging	Het
Agpat2	A	G	2: 26,487,318 (GRCm39)	Y72H	probably benign	Het
Ap3m1	A	G	14: 21,095,666 (GRCm39)	Y55H	possibly damaging	Het
Cacna1a	C	T	8: 85,142,446 (GRCm39)	A58V	probably damaging	Het
Cacna1c	C	T	6: 119,084,909 (GRCm39)	V10I		Het
Ccnt1	T	A	15: 98,441,097 (GRCm39)	K724*	probably null	Het
Cd72	T	A	4: 43,454,320 (GRCm39)	T38S	possibly damaging	Het
Crispld1	T	A	1: 17,832,454 (GRCm39)	I480K	probably damaging	Het
Diaph3	G	T	14: 87,378,461 (GRCm39)	Y30*	probably null	Het
Ei24	A	G	9: 36,701,217 (GRCm39)	I34T	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,511 (GRCm39)	S144N	probably damaging	Het
Fgf21	G	T	7: 45,263,614 (GRCm39)	Q155K	probably benign	Het
Gdap1l1	A	T	2: 163,295,664 (GRCm39)	R310S	probably benign	Het
Gm44501	G	A	17: 40,889,620 (GRCm39)	V45I	probably benign	Het
Gne	A	G	4: 44,066,845 (GRCm39)	L56P	probably damaging	Het
Hcn4	T	C	9: 58,767,705 (GRCm39)	S1089P	probably damaging	Het
Hexim1	C	T	11: 103,007,974 (GRCm39)	T76M	probably damaging	Het
Hkdc1	A	T	10: 62,236,114 (GRCm39)	L476*	probably null	Het
Hoxd8	CGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGC	2: 74,535,942 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,765,866 (GRCm39)	I407L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,699,878 (GRCm39)	Y78C	possibly damaging	Het
Kif20a	T	A	18: 34,762,562 (GRCm39)	C478*	probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Ltbp2	C	T	12: 84,922,965 (GRCm39)	R34Q	probably benign	Het
Mccc1	A	G	3: 36,014,238 (GRCm39)	V693A	probably damaging	Het
Muc5b	C	A	7: 141,411,475 (GRCm39)	Q1474K	unknown	Het
Nos1	T	C	5: 118,038,589 (GRCm39)	V474A	possibly damaging	Het
Nprl2	G	A	9: 107,421,955 (GRCm39)	V244M	probably damaging	Het
Npy2r	A	G	3: 82,448,068 (GRCm39)	S236P	probably damaging	Het
Or8b9	G	A	9: 37,766,710 (GRCm39)	V199I	probably benign	Het
Or8c10	A	G	9: 38,279,003 (GRCm39)	S44G	probably benign	Het
P2rx7	T	C	5: 122,818,961 (GRCm39)	L461P	probably benign	Het
Pacc1	T	C	1: 191,077,318 (GRCm39)		probably null	Het
Plcl1	T	C	1: 55,736,030 (GRCm39)	L457P	possibly damaging	Het
Plekho2	C	A	9: 65,463,866 (GRCm39)	A328S	probably benign	Het
Polg	T	C	7: 79,108,148 (GRCm39)	K556E	probably damaging	Het
Prl7a2	A	G	13: 27,849,062 (GRCm39)	S76P	probably damaging	Het
Ptar1	T	A	19: 23,671,707 (GRCm39)	C37S	probably benign	Het
Pwwp2b	G	A	7: 138,835,357 (GRCm39)	G266D	probably damaging	Het
Pygm	T	C	19: 6,448,129 (GRCm39)	F812L	probably damaging	Het
Smarcc2	A	T	10: 128,323,310 (GRCm39)	T982S	unknown	Het
Spata31e2	T	C	1: 26,722,790 (GRCm39)	R797G	probably benign	Het
Syne1	C	G	10: 5,073,666 (GRCm39)	V1226L	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmub1	T	C	5: 24,650,985 (GRCm39)	T225A	probably damaging	Het
Trmo	A	C	4: 46,387,642 (GRCm39)	C59W	possibly damaging	Het
Ttc6	C	A	12: 57,720,509 (GRCm39)	A925D	probably damaging	Het
Tubb1	A	G	2: 174,297,472 (GRCm39)	E27G	probably damaging	Het
Unkl	G	A	17: 25,450,723 (GRCm39)	C503Y	probably damaging	Het
Usp40	A	G	1: 87,901,828 (GRCm39)	I785T	probably damaging	Het
Vmn2r32	G	A	7: 7,467,402 (GRCm39)	Q709*	probably null	Het
Xaf1	T	C	11: 72,197,470 (GRCm39)	S149P	probably damaging	Het
Ythdc2	T	A	18: 44,970,499 (GRCm39)	V271E	possibly damaging	Het
Zfp386	C	T	12: 116,011,433 (GRCm39)		probably benign	Het
Zfp456	T	A	13: 67,514,389 (GRCm39)	E439V	probably damaging	Het

Other mutations in Pde12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Pde12	APN	14	26,387,619 (GRCm39)	unclassified	probably benign
IGL02306:Pde12	APN	14	26,389,533 (GRCm39)	missense	possibly damaging	0.83
IGL02630:Pde12	APN	14	26,387,552 (GRCm39)	missense	probably damaging	1.00
IGL02830:Pde12	APN	14	26,389,740 (GRCm39)	missense	probably damaging	1.00
IGL03268:Pde12	APN	14	26,389,614 (GRCm39)	missense	probably benign	0.32
R1727:Pde12	UTSW	14	26,390,022 (GRCm39)	missense	probably benign	0.02
R2057:Pde12	UTSW	14	26,390,035 (GRCm39)	missense	probably benign
R2059:Pde12	UTSW	14	26,390,035 (GRCm39)	missense	probably benign
R2510:Pde12	UTSW	14	26,386,681 (GRCm39)	makesense	probably null
R4174:Pde12	UTSW	14	26,390,144 (GRCm39)	missense	probably benign	0.00
R5121:Pde12	UTSW	14	26,390,577 (GRCm39)	nonsense	probably null
R5190:Pde12	UTSW	14	26,387,532 (GRCm39)	critical splice donor site	probably null
R5387:Pde12	UTSW	14	26,387,608 (GRCm39)	missense	probably benign	0.00
R5847:Pde12	UTSW	14	26,386,786 (GRCm39)	missense	possibly damaging	0.96
R5987:Pde12	UTSW	14	26,390,253 (GRCm39)	missense	probably benign	0.02
R7495:Pde12	UTSW	14	26,389,994 (GRCm39)	missense	probably benign	0.19
R8021:Pde12	UTSW	14	26,386,854 (GRCm39)	nonsense	probably null
R8865:Pde12	UTSW	14	26,390,280 (GRCm39)	missense	possibly damaging	0.51
R8898:Pde12	UTSW	14	26,390,577 (GRCm39)	missense	probably benign	0.22
R9300:Pde12	UTSW	14	26,386,931 (GRCm39)	missense	probably damaging	0.98
R9604:Pde12	UTSW	14	26,390,008 (GRCm39)	missense	possibly damaging	0.63
R9739:Pde12	UTSW	14	26,386,757 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACCAAGCTGTCGGAGAACAC -3'
(R):5'- TTCAGCTTGGATCGAGACCG -3'

Sequencing Primer
(F):5'- GCGCGGTCCACCTCCTG -3'
(R):5'- GTCTACACCCCGTGCAATG -3'

Posted On

2022-04-18