Mutagenetix > Incidental Mutation

Incidental Mutation 'R7293:Prkd2'

566548

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

MMRRC Submission

045398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16576827-16604386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16579865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000083273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]

AlphaFold

Q8BZ03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086104
AA Change: V121A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: V121A

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168093
AA Change: V121A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: V121A

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,795,492 (GRCm39)	G416E	probably damaging	Het
Acsl5	G	T	19: 55,279,642 (GRCm39)	W460L	probably damaging	Het
Adam2	A	G	14: 66,272,634 (GRCm39)	F614S	probably benign	Het
Adamts5	G	A	16: 85,696,833 (GRCm39)	T108I	probably benign	Het
Agmat	C	T	4: 141,483,246 (GRCm39)	Q227*	probably null	Het
Alg11	A	G	8: 22,555,395 (GRCm39)	N219D	probably damaging	Het
Amhr2	A	G	15: 102,355,828 (GRCm39)	T258A	probably benign	Het
Ankrd53	A	G	6: 83,740,178 (GRCm39)	E82G	probably null	Het
Blzf1	T	A	1: 164,123,452 (GRCm39)	T292S	possibly damaging	Het
Capza1	T	C	3: 104,748,151 (GRCm39)	D71G	probably benign	Het
Cc2d1b	T	C	4: 108,488,873 (GRCm39)	F770L	probably benign	Het
Cckbr	A	T	7: 105,083,852 (GRCm39)	Q260L	probably benign	Het
Cep162	T	C	9: 87,085,836 (GRCm39)	T1163A	probably benign	Het
Chd9	T	C	8: 91,760,707 (GRCm39)	S2151P	unknown	Het
Clk1	T	A	1: 58,453,772 (GRCm39)	T301S	probably benign	Het
Cmya5	T	A	13: 93,229,305 (GRCm39)	S1928C	possibly damaging	Het
Col24a1	C	T	3: 145,192,059 (GRCm39)	Q1273*	probably null	Het
Col4a4	T	C	1: 82,501,664 (GRCm39)	D363G	unknown	Het
Copb1	A	T	7: 113,818,837 (GRCm39)	M827K	probably damaging	Het
Crocc	C	T	4: 140,770,867 (GRCm39)	A351T	probably benign	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Csrnp3	A	G	2: 65,779,344 (GRCm39)	R19G	probably damaging	Het
Cyb5rl	T	C	4: 106,938,143 (GRCm39)	I165T	probably damaging	Het
Dnah1	A	T	14: 31,009,820 (GRCm39)	I1916N	probably damaging	Het
Dvl1	T	C	4: 155,940,625 (GRCm39)	M415T	possibly damaging	Het
Dync2h1	A	G	9: 7,001,454 (GRCm39)	S3845P	possibly damaging	Het
Eif3b	A	G	5: 140,405,183 (GRCm39)	Q23R	probably benign	Het
Esam	G	T	9: 37,449,020 (GRCm39)	R376L	probably damaging	Het
Fat3	G	C	9: 15,826,336 (GRCm39)	H391D		Het
Fat3	A	C	9: 15,826,592 (GRCm39)	S305R		Het
Fgd3	T	C	13: 49,418,134 (GRCm39)	D644G	probably benign	Het
Fgf7	T	C	2: 125,877,672 (GRCm39)	L13P	probably damaging	Het
Gas2l1	A	G	11: 5,014,338 (GRCm39)	Y41H	probably damaging	Het
Glg1	A	T	8: 111,895,375 (GRCm39)	I812N	probably damaging	Het
Glp1r	C	T	17: 31,143,599 (GRCm39)	H212Y	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gpr158	G	A	2: 21,581,750 (GRCm39)	V410I	possibly damaging	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Itgb2l	A	C	16: 96,227,996 (GRCm39)	Y502*	probably null	Het
Jakmip1	G	A	5: 37,284,817 (GRCm39)	V635I	probably benign	Het
Kplce	A	T	3: 92,776,126 (GRCm39)	C186S	probably benign	Het
Krt23	C	T	11: 99,374,682 (GRCm39)	M270I	probably benign	Het
Larp1b	C	T	3: 40,939,879 (GRCm39)	A344V		Het
Lin28b	T	C	10: 45,295,282 (GRCm39)	M134V	probably benign	Het
Lrrc19	T	A	4: 94,526,627 (GRCm39)	Y310F	probably benign	Het
Lyst	T	A	13: 13,854,822 (GRCm39)	D2397E	probably benign	Het
Map6	A	G	7: 98,985,740 (GRCm39)	N751S	possibly damaging	Het
Mgrn1	G	A	16: 4,750,084 (GRCm39)	D494N	probably benign	Het
Myh6	A	G	14: 55,184,631 (GRCm39)	F1567L	probably benign	Het
Myo9b	T	C	8: 71,778,549 (GRCm39)	V461A	probably benign	Het
Ncan	A	T	8: 70,567,861 (GRCm39)	S84T	probably damaging	Het
Nlrp9a	G	A	7: 26,270,694 (GRCm39)	C908Y	probably damaging	Het
Or4c3	A	T	2: 89,851,871 (GRCm39)	Y180N	probably damaging	Het
Or4f4b	A	G	2: 111,313,699 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,319,925 (GRCm39)	N5K	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,130 (GRCm39)	M92L	probably benign	Het
Parp4	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	14: 56,885,303 (GRCm39)		probably benign	Het
Pld1	C	A	3: 28,141,435 (GRCm39)	T666K	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Pramel7	A	C	2: 87,322,706 (GRCm39)	N19K	probably benign	Het
Prh1	C	G	6: 132,548,721 (GRCm39)	P76R	unknown	Het
Ptprq	G	A	10: 107,471,367 (GRCm39)	Q1345*	probably null	Het
Ryr3	T	A	2: 112,732,948 (GRCm39)	T653S	probably benign	Het
Sall2	G	T	14: 52,551,868 (GRCm39)	Y442*	probably null	Het
Slc23a2	A	C	2: 131,931,026 (GRCm39)	F158V	probably benign	Het
Smg1	C	A	7: 117,765,322 (GRCm39)	R1954L	unknown	Het
Snx31	G	A	15: 36,523,596 (GRCm39)	T362I	probably damaging	Het
Taf3	G	T	2: 9,956,901 (GRCm39)	T422K	probably damaging	Het
Tcfl5	T	C	2: 180,283,958 (GRCm39)	D142G	probably benign	Het
Tmx1	A	G	12: 70,507,325 (GRCm39)	T188A	probably damaging	Het
Tnfrsf11a	A	G	1: 105,735,866 (GRCm39)		probably null	Het
Trio	A	T	15: 27,871,375 (GRCm39)	C640S	possibly damaging	Het
Ulk4	T	G	9: 121,084,190 (GRCm39)	N427T	probably damaging	Het
Vmn1r202	T	C	13: 22,685,872 (GRCm39)	M182V	probably benign	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het

Other mutations in Prkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Prkd2	APN	7	16,599,787 (GRCm39)	missense	probably damaging	1.00
IGL01138:Prkd2	APN	7	16,582,736 (GRCm39)	missense	probably damaging	1.00
IGL01714:Prkd2	APN	7	16,597,867 (GRCm39)	missense	probably damaging	1.00
IGL01968:Prkd2	APN	7	16,603,501 (GRCm39)	splice site	probably null
IGL01969:Prkd2	APN	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
IGL02354:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02361:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02504:Prkd2	APN	7	16,591,757 (GRCm39)	missense	probably damaging	1.00
IGL02804:Prkd2	APN	7	16,589,815 (GRCm39)	missense	probably benign	0.04
IGL02834:Prkd2	APN	7	16,579,859 (GRCm39)	missense	probably damaging	0.97
IGL02962:Prkd2	APN	7	16,603,757 (GRCm39)	missense	probably benign	0.01
IGL03053:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
IGL03168:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
alila	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
Beaches	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
Purnama	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
Sandals	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R0024:Prkd2	UTSW	7	16,581,568 (GRCm39)	missense	probably damaging	1.00
R0173:Prkd2	UTSW	7	16,582,969 (GRCm39)	missense	probably benign
R0190:Prkd2	UTSW	7	16,603,815 (GRCm39)	missense	probably damaging	1.00
R0834:Prkd2	UTSW	7	16,599,602 (GRCm39)	splice site	probably benign
R1418:Prkd2	UTSW	7	16,603,470 (GRCm39)	missense	probably benign	0.03
R1488:Prkd2	UTSW	7	16,592,364 (GRCm39)	missense	probably damaging	1.00
R1648:Prkd2	UTSW	7	16,591,732 (GRCm39)	missense	possibly damaging	0.51
R2015:Prkd2	UTSW	7	16,581,602 (GRCm39)	nonsense	probably null
R2042:Prkd2	UTSW	7	16,590,193 (GRCm39)	missense	possibly damaging	0.86
R2101:Prkd2	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
R3884:Prkd2	UTSW	7	16,587,180 (GRCm39)	missense	probably benign	0.02
R4601:Prkd2	UTSW	7	16,577,573 (GRCm39)	unclassified	probably benign
R4979:Prkd2	UTSW	7	16,582,652 (GRCm39)	missense	probably damaging	1.00
R5240:Prkd2	UTSW	7	16,589,711 (GRCm39)	missense	probably benign	0.09
R5643:Prkd2	UTSW	7	16,577,717 (GRCm39)	missense	probably benign	0.02
R5994:Prkd2	UTSW	7	16,584,261 (GRCm39)	missense	probably benign	0.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6361:Prkd2	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
R6738:Prkd2	UTSW	7	16,599,830 (GRCm39)	missense	possibly damaging	0.64
R6798:Prkd2	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
R6815:Prkd2	UTSW	7	16,577,718 (GRCm39)	missense	probably benign	0.00
R7241:Prkd2	UTSW	7	16,591,730 (GRCm39)	missense	probably benign	0.44
R7323:Prkd2	UTSW	7	16,581,547 (GRCm39)	missense	probably benign	0.07
R7900:Prkd2	UTSW	7	16,587,269 (GRCm39)	missense	probably benign	0.01
R7943:Prkd2	UTSW	7	16,584,244 (GRCm39)	missense	probably benign	0.30
R8723:Prkd2	UTSW	7	16,591,702 (GRCm39)	missense	possibly damaging	0.90
R8729:Prkd2	UTSW	7	16,583,052 (GRCm39)	missense	probably damaging	1.00
R8923:Prkd2	UTSW	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
R9111:Prkd2	UTSW	7	16,584,131 (GRCm39)	missense	probably benign	0.01
R9222:Prkd2	UTSW	7	16,577,699 (GRCm39)	missense	probably damaging	0.98
R9466:Prkd2	UTSW	7	16,589,696 (GRCm39)	missense	probably damaging	1.00
R9564:Prkd2	UTSW	7	16,591,744 (GRCm39)	missense	possibly damaging	0.92
X0062:Prkd2	UTSW	7	16,589,716 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGCTGTCGCATCCTGTATTTAG -3'
(R):5'- AGGTTTCTATGAGGCACACC -3'

Sequencing Primer
(F):5'- GCATCCTGTATTTAGCTTTTCCGTTG -3'
(R):5'- CAGATCCCTTGGAACTGGAGTTAC -3'

Posted On

2019-06-26