Mutagenetix > Incidental Mutation

Incidental Mutation 'R9604:Pde12'

723845

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 #

R9604 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26381113-26390823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26390008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 234 (Y234H)

Ref Sequence

ENSEMBL: ENSMUSP00000059666 (fasta)

Gene Model

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

AlphaFold

Q3TIU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052932
AA Change: Y234H

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059666
Gene: ENSMUSG00000043702
AA Change: Y234H

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,597,570 (GRCm39)	F79S	probably damaging	Het
Ankrd60	A	T	2: 173,412,987 (GRCm39)	I167N	probably benign	Het
Atp13a3	G	T	16: 30,168,506 (GRCm39)	D494E	probably damaging	Het
Cep83	A	C	10: 94,554,939 (GRCm39)	H35P	possibly damaging	Het
Cpne3	A	G	4: 19,555,477 (GRCm39)	V6A	probably benign	Het
Dnm3	G	A	1: 161,838,584 (GRCm39)	A259V	possibly damaging	Het
Eftud2	T	C	11: 102,737,056 (GRCm39)	I575V	probably benign	Het
Eif4g1	A	G	16: 20,500,255 (GRCm39)	N676S	possibly damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,264,011 (GRCm39)	K329N	probably benign	Het
Gm15446	T	C	5: 110,088,314 (GRCm39)	V9A	probably damaging	Het
Golim4	A	T	3: 75,815,435 (GRCm39)		probably null	Het
Harbi1	T	C	2: 91,542,689 (GRCm39)	V50A	probably damaging	Het
Hcn2	T	C	10: 79,564,787 (GRCm39)	C400R	probably damaging	Het
Heatr6	T	C	11: 83,668,188 (GRCm39)	M894T	probably damaging	Het
Hid1	A	T	11: 115,243,466 (GRCm39)	H527Q		Het
Ifitm1	C	T	7: 140,548,227 (GRCm39)	A20V	probably benign	Het
Klk1b11	T	A	7: 43,427,850 (GRCm39)	L213Q		Het
Lepr	A	G	4: 101,590,473 (GRCm39)	Y17C	probably benign	Het
N4bp3	A	T	11: 51,536,493 (GRCm39)	V113E	probably damaging	Het
Neb	C	T	2: 52,182,680 (GRCm39)	R1062K	probably benign	Het
Nlrp4b	T	A	7: 10,444,295 (GRCm39)	N81K	probably benign	Het
Nol6	A	G	4: 41,120,298 (GRCm39)	I473T	probably benign	Het
Nsd1	T	A	13: 55,381,807 (GRCm39)	S344T	probably benign	Het
Pals2	C	A	6: 50,173,597 (GRCm39)	A487E	probably benign	Het
Pla2g4e	C	T	2: 120,015,680 (GRCm39)	C288Y	probably benign	Het
Plekhd1	A	G	12: 80,739,731 (GRCm39)	T27A	probably damaging	Het
Pls1	T	A	9: 95,644,057 (GRCm39)	I480F	probably damaging	Het
Prom1	A	G	5: 44,187,075 (GRCm39)	I394T	probably damaging	Het
Ros1	A	T	10: 51,994,249 (GRCm39)	C1365S	probably damaging	Het
Rpgrip1l	G	A	8: 92,031,433 (GRCm39)	T148M	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Tap1	A	C	17: 34,412,172 (GRCm39)	D459A	probably damaging	Het
Tas2r125	T	C	6: 132,887,023 (GRCm39)	I137T	probably benign	Het
Tent5a	C	A	9: 85,206,677 (GRCm39)	V374L	probably benign	Het
Ubr4	T	C	4: 139,159,827 (GRCm39)		probably null	Het
Vmn1r172	T	C	7: 23,359,193 (GRCm39)	I26T	possibly 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
R9331:Pde12	UTSW	14	26,389,828 (GRCm39)	missense	probably benign
R9739:Pde12	UTSW	14	26,386,757 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGCCAGGATGTTGTAGGAGAC -3'
(R):5'- CTACATCATGGCTGGCTTCC -3'

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

Posted On

2022-09-12