Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Plce1'

571584

Institutional Source

Beutler Lab

Gene Symbol

Plce1

Ensembl Gene

ENSMUSG00000024998

Gene Name

phospholipase C, epsilon 1

Synonyms

4933403A21Rik, PLCepsilon

MMRRC Submission

045360-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38481109-38785030 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38779896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2205 (I2205T)

Ref Sequence

ENSEMBL: ENSMUSP00000138330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169713] [ENSMUST00000182267] [ENSMUST00000182481]

AlphaFold

Q8K4S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169713
AA Change: I2191T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130604
Gene: ENSMUSG00000024998
AA Change: I2191T

Domain	Start	End	E-Value	Type
low complexity region	471	489	N/A	INTRINSIC
RasGEF	525	828	8.06e-9	SMART
low complexity region	1162	1172	N/A	INTRINSIC
Pfam:EF-hand_like	1305	1369	7.6e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1561	1575	N/A	INTRINSIC
SCOP:d1qasa3	1634	1662	1e-3	SMART
low complexity region	1666	1680	N/A	INTRINSIC
PLCYc	1710	1826	4.28e-46	SMART
C2	1850	1948	3.7e-10	SMART
PDB:2BYE\|A	1986	2094	6e-47	PDB
RA	2115	2218	1.12e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182267
AA Change: I2205T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138330
Gene: ENSMUSG00000024998
AA Change: I2205T

Domain	Start	End	E-Value	Type
low complexity region	471	489	N/A	INTRINSIC
RasGEF	525	828	8.06e-9	SMART
low complexity region	1162	1172	N/A	INTRINSIC
Pfam:EF-hand_like	1305	1369	5.9e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1552	1581	N/A	INTRINSIC
SCOP:d1qasa3	1648	1676	1e-3	SMART
low complexity region	1680	1694	N/A	INTRINSIC
PLCYc	1724	1840	4.28e-46	SMART
C2	1864	1962	3.7e-10	SMART
PDB:2BYE\|A	2000	2108	6e-47	PDB
RA	2129	2232	1.12e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182481
AA Change: I2191T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138360
Gene: ENSMUSG00000024998
AA Change: I2191T

Domain	Start	End	E-Value	Type
low complexity region	471	489	N/A	INTRINSIC
RasGEF	525	828	8.06e-9	SMART
low complexity region	1162	1172	N/A	INTRINSIC
Pfam:EF-hand_like	1305	1369	8e-11	PFAM
PLCXc	1373	1521	1.05e-81	SMART
low complexity region	1561	1575	N/A	INTRINSIC
SCOP:d1qasa3	1634	1662	1e-3	SMART
low complexity region	1666	1680	N/A	INTRINSIC
PLCYc	1710	1826	4.28e-46	SMART
C2	1850	1948	3.7e-10	SMART
PDB:2BYE\|A	1986	2094	6e-47	PDB
RA	2115	2218	1.12e-2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,476 (GRCm38)	L142P	probably benign	Het
Abca13	A	T	11: 9,291,126 (GRCm38)	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,174,373 (GRCm38)	F558L	possibly damaging	Het
Acp7	T	A	7: 28,630,882 (GRCm38)	D2V	unknown	Het
Acvr1c	T	C	2: 58,284,936 (GRCm38)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,624,037 (GRCm38)	S1124P		Het
B4galnt1	A	T	10: 127,167,788 (GRCm38)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,364,138 (GRCm38)	T237N	probably benign	Het
C8b	T	C	4: 104,780,627 (GRCm38)	C99R	probably damaging	Het
Ccnk	C	A	12: 108,193,705 (GRCm38)	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,140,360 (GRCm38)	D47G	probably benign	Het
Chid1	A	T	7: 141,529,488 (GRCm38)		probably null	Het
Cmya5	T	A	13: 93,095,700 (GRCm38)	E960V	probably damaging	Het
Col18a1	A	G	10: 77,096,284 (GRCm38)	S112P	unknown	Het
Cps1	G	A	1: 67,170,921 (GRCm38)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,752,878 (GRCm38)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,070,253 (GRCm38)	L245*	probably null	Het
Ddr2	G	T	1: 169,984,961 (GRCm38)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,791,791 (GRCm38)		probably null	Het
Elavl4	C	T	4: 110,211,425 (GRCm38)		probably null	Het
Emilin1	T	C	5: 30,920,660 (GRCm38)	V921A	probably benign	Het
Evpl	T	A	11: 116,223,113 (GRCm38)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,732,790 (GRCm38)	G101E	probably benign	Het
Fam92b	T	A	8: 120,168,603 (GRCm38)	T187S	possibly damaging	Het
Gemin4	T	C	11: 76,212,106 (GRCm38)	T610A	probably damaging	Het
Glis1	T	C	4: 107,435,683 (GRCm38)	M1T	probably null	Het
Gm14399	C	T	2: 175,130,459 (GRCm38)		probably benign	Het
Gorasp2	C	T	2: 70,679,505 (GRCm38)	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,342 (GRCm38)	V501A	possibly damaging	Het
Grik4	T	A	9: 42,622,060 (GRCm38)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,551,125 (GRCm38)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,412,176 (GRCm38)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,429,043 (GRCm38)	S356P	probably damaging	Het
Klk1b22	A	G	7: 44,114,749 (GRCm38)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,310,539 (GRCm38)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,486,352 (GRCm38)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,440,743 (GRCm38)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,124,859 (GRCm38)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,993,868 (GRCm38)	S170G	probably benign	Het
Muc5b	A	T	7: 141,857,502 (GRCm38)	D1395V	unknown	Het
Muc6	G	A	7: 141,640,575 (GRCm38)	T1395M	probably benign	Het
Myh15	A	G	16: 49,091,105 (GRCm38)	D300G	probably damaging	Het
Nat6	T	C	9: 107,583,299 (GRCm38)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,438,303 (GRCm38)	T174A	probably benign	Het
Nek5	T	A	8: 22,090,484 (GRCm38)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,159,378 (GRCm38)	V400I	probably damaging	Het
Olfr364-ps1	G	T	2: 37,147,009 (GRCm38)	V266L	probably benign	Het
Olfr365	T	C	2: 37,202,080 (GRCm38)	Y280H	probably damaging	Het
Olfr449	G	A	6: 42,834,396 (GRCm38)		probably null	Het
Olfr554	T	C	7: 102,640,983 (GRCm38)	S246P	probably damaging	Het
Olfr612	A	T	7: 103,538,728 (GRCm38)	Y169N	probably benign	Het
Olfr787	T	A	10: 129,462,751 (GRCm38)	I25N	probably damaging	Het
Parn	T	C	16: 13,626,063 (GRCm38)		probably null	Het
Pfkl	T	C	10: 77,992,023 (GRCm38)	T468A	probably damaging	Het
Pi16	C	A	17: 29,319,234 (GRCm38)	P7Q	possibly damaging	Het
Prss16	A	T	13: 22,003,147 (GRCm38)	N442K	probably damaging	Het
Pus7	A	G	5: 23,752,344 (GRCm38)	S370P	probably damaging	Het
Ripk3	G	T	14: 55,787,284 (GRCm38)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,271,635 (GRCm38)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,445,528 (GRCm38)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 45,282,480 (GRCm38)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,868,106 (GRCm38)	R589Q	probably benign	Het
Slc8a2	T	C	7: 16,141,152 (GRCm38)	S442P	probably damaging	Het
Snupn	T	A	9: 56,982,744 (GRCm38)	M283K	probably damaging	Het
Steap3	A	T	1: 120,234,357 (GRCm38)	M395K	probably damaging	Het
Sv2b	G	A	7: 75,147,654 (GRCm38)	P331S	probably damaging	Het
Tlr1	A	G	5: 64,926,772 (GRCm38)	V154A	probably benign	Het
Tmem131	A	G	1: 36,796,301 (GRCm38)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 142,037,685 (GRCm38)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,078,761 (GRCm38)	R26H	probably benign	Het
Trp53	C	T	11: 69,591,255 (GRCm38)	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,199,035 (GRCm38)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,166,886 (GRCm38)	K279*	probably null	Het
Unc80	A	G	1: 66,552,209 (GRCm38)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,166,379 (GRCm38)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,793,482 (GRCm38)	H78L	possibly damaging	Het
Zfp869	G	A	8: 69,706,478 (GRCm38)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,551,540 (GRCm38)	V638A	probably damaging	Het

Other mutations in Plce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Plce1	APN	19	38,745,788 (GRCm38)	missense	probably damaging	0.99
IGL00336:Plce1	APN	19	38,651,906 (GRCm38)	missense	probably damaging	1.00
IGL00430:Plce1	APN	19	38,725,017 (GRCm38)	missense	probably damaging	1.00
IGL00466:Plce1	APN	19	38,721,029 (GRCm38)	missense	probably damaging	0.99
IGL00477:Plce1	APN	19	38,525,132 (GRCm38)	missense	probably benign	0.39
IGL00839:Plce1	APN	19	38,698,562 (GRCm38)	missense	probably damaging	1.00
IGL01292:Plce1	APN	19	38,651,785 (GRCm38)	splice site	probably benign
IGL01665:Plce1	APN	19	38,524,887 (GRCm38)	missense	probably benign	0.01
IGL01826:Plce1	APN	19	38,739,238 (GRCm38)	splice site	probably benign
IGL01833:Plce1	APN	19	38,720,981 (GRCm38)	missense	probably damaging	1.00
IGL02201:Plce1	APN	19	38,769,446 (GRCm38)	splice site	probably benign
IGL02276:Plce1	APN	19	38,524,757 (GRCm38)	missense	probably benign	0.05
IGL02477:Plce1	APN	19	38,719,553 (GRCm38)	splice site	probably benign
IGL02746:Plce1	APN	19	38,698,472 (GRCm38)	missense	probably damaging	1.00
Angel_food	UTSW	19	38,727,013 (GRCm38)	splice site	probably benign
Heavenly	UTSW	19	38,777,989 (GRCm38)	missense	probably damaging	1.00
R0058:Plce1	UTSW	19	38,525,184 (GRCm38)	missense	possibly damaging	0.90
R0058:Plce1	UTSW	19	38,525,184 (GRCm38)	missense	possibly damaging	0.90
R0064:Plce1	UTSW	19	38,780,784 (GRCm38)	critical splice donor site	probably null
R0116:Plce1	UTSW	19	38,721,821 (GRCm38)	missense	probably benign
R0138:Plce1	UTSW	19	38,524,419 (GRCm38)	missense	possibly damaging	0.49
R0240:Plce1	UTSW	19	38,728,886 (GRCm38)	missense	probably damaging	0.99
R0240:Plce1	UTSW	19	38,728,886 (GRCm38)	missense	probably damaging	0.99
R0504:Plce1	UTSW	19	38,778,021 (GRCm38)	splice site	probably benign
R0506:Plce1	UTSW	19	38,760,138 (GRCm38)	missense	probably benign	0.04
R0578:Plce1	UTSW	19	38,777,939 (GRCm38)	missense	probably damaging	1.00
R0645:Plce1	UTSW	19	38,777,989 (GRCm38)	missense	probably damaging	1.00
R0730:Plce1	UTSW	19	38,716,691 (GRCm38)	missense	probably damaging	0.98
R0920:Plce1	UTSW	19	38,736,521 (GRCm38)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,767,226 (GRCm38)	missense	probably damaging	1.00
R1223:Plce1	UTSW	19	38,702,013 (GRCm38)	missense	probably damaging	1.00
R1484:Plce1	UTSW	19	38,705,339 (GRCm38)	nonsense	probably null
R1488:Plce1	UTSW	19	38,716,803 (GRCm38)	missense	possibly damaging	0.92
R1598:Plce1	UTSW	19	38,720,996 (GRCm38)	missense	probably damaging	1.00
R1624:Plce1	UTSW	19	38,724,775 (GRCm38)	missense	probably damaging	1.00
R1732:Plce1	UTSW	19	38,716,838 (GRCm38)	missense	possibly damaging	0.56
R1778:Plce1	UTSW	19	38,780,790 (GRCm38)	splice site	probably benign
R1797:Plce1	UTSW	19	38,758,948 (GRCm38)	critical splice donor site	probably null
R1872:Plce1	UTSW	19	38,760,077 (GRCm38)	missense	probably damaging	1.00
R1876:Plce1	UTSW	19	38,780,623 (GRCm38)	missense	probably damaging	1.00
R1991:Plce1	UTSW	19	38,777,924 (GRCm38)	missense	probably damaging	1.00
R2080:Plce1	UTSW	19	38,727,013 (GRCm38)	splice site	probably benign
R2103:Plce1	UTSW	19	38,777,924 (GRCm38)	missense	probably damaging	1.00
R2376:Plce1	UTSW	19	38,777,986 (GRCm38)	missense	probably benign	0.02
R2471:Plce1	UTSW	19	38,779,926 (GRCm38)	missense	probably damaging	1.00
R2511:Plce1	UTSW	19	38,760,054 (GRCm38)	missense	probably damaging	1.00
R2842:Plce1	UTSW	19	38,524,283 (GRCm38)	missense	probably damaging	1.00
R3037:Plce1	UTSW	19	38,777,884 (GRCm38)	missense	probably damaging	0.98
R3104:Plce1	UTSW	19	38,620,519 (GRCm38)	missense	probably benign	0.00
R3700:Plce1	UTSW	19	38,705,337 (GRCm38)	missense	probably damaging	1.00
R3750:Plce1	UTSW	19	38,777,899 (GRCm38)	missense	probably benign
R3753:Plce1	UTSW	19	38,651,834 (GRCm38)	missense	probably benign	0.09
R4027:Plce1	UTSW	19	38,524,265 (GRCm38)	missense	probably damaging	1.00
R4057:Plce1	UTSW	19	38,760,119 (GRCm38)	missense	probably damaging	1.00
R4376:Plce1	UTSW	19	38,705,447 (GRCm38)	critical splice donor site	probably null
R4433:Plce1	UTSW	19	38,767,301 (GRCm38)	missense	probably damaging	1.00
R4520:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4521:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4522:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4524:Plce1	UTSW	19	38,524,319 (GRCm38)	missense	possibly damaging	0.46
R4650:Plce1	UTSW	19	38,524,644 (GRCm38)	missense	probably benign	0.30
R4673:Plce1	UTSW	19	38,749,396 (GRCm38)	missense	possibly damaging	0.51
R4701:Plce1	UTSW	19	38,725,007 (GRCm38)	missense	probably benign	0.33
R4828:Plce1	UTSW	19	38,769,499 (GRCm38)	missense	probably damaging	1.00
R5103:Plce1	UTSW	19	38,767,215 (GRCm38)	missense	probably damaging	1.00
R5112:Plce1	UTSW	19	38,651,833 (GRCm38)	missense	probably benign	0.00
R5236:Plce1	UTSW	19	38,770,347 (GRCm38)	missense	probably benign	0.11
R5268:Plce1	UTSW	19	38,758,835 (GRCm38)	missense	possibly damaging	0.71
R5288:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5384:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5386:Plce1	UTSW	19	38,760,091 (GRCm38)	missense	probably damaging	1.00
R5448:Plce1	UTSW	19	38,779,917 (GRCm38)	missense	probably damaging	1.00
R5452:Plce1	UTSW	19	38,620,482 (GRCm38)	missense	probably benign	0.01
R6004:Plce1	UTSW	19	38,721,871 (GRCm38)	missense	probably damaging	1.00
R6062:Plce1	UTSW	19	38,524,751 (GRCm38)	missense	probably benign
R6147:Plce1	UTSW	19	38,702,037 (GRCm38)	missense	probably damaging	1.00
R6247:Plce1	UTSW	19	38,745,845 (GRCm38)	missense	probably damaging	1.00
R6278:Plce1	UTSW	19	38,725,051 (GRCm38)	splice site	probably null
R6306:Plce1	UTSW	19	38,769,465 (GRCm38)	missense	probably damaging	1.00
R6317:Plce1	UTSW	19	38,524,530 (GRCm38)	nonsense	probably null
R6437:Plce1	UTSW	19	38,525,132 (GRCm38)	missense	probably benign	0.39
R6522:Plce1	UTSW	19	38,748,521 (GRCm38)	splice site	probably null
R7034:Plce1	UTSW	19	38,739,357 (GRCm38)	missense	probably damaging	1.00
R7036:Plce1	UTSW	19	38,739,357 (GRCm38)	missense	probably damaging	1.00
R7037:Plce1	UTSW	19	38,702,017 (GRCm38)	missense	probably damaging	1.00
R7069:Plce1	UTSW	19	38,758,940 (GRCm38)	missense	probably damaging	1.00
R7180:Plce1	UTSW	19	38,779,785 (GRCm38)	missense	probably damaging	1.00
R7189:Plce1	UTSW	19	38,760,137 (GRCm38)	missense	probably damaging	0.97
R7227:Plce1	UTSW	19	38,726,902 (GRCm38)	missense	probably benign	0.00
R7253:Plce1	UTSW	19	38,698,508 (GRCm38)	missense	probably damaging	1.00
R7287:Plce1	UTSW	19	38,701,903 (GRCm38)	missense	probably benign	0.02
R7422:Plce1	UTSW	19	38,651,885 (GRCm38)	missense	probably damaging	1.00
R7557:Plce1	UTSW	19	38,765,404 (GRCm38)	missense	probably benign	0.30
R7607:Plce1	UTSW	19	38,524,752 (GRCm38)	missense	probably benign
R7615:Plce1	UTSW	19	38,524,665 (GRCm38)	missense	probably benign	0.18
R7653:Plce1	UTSW	19	38,749,319 (GRCm38)	missense	probably benign	0.20
R7685:Plce1	UTSW	19	38,748,433 (GRCm38)	missense	probably benign	0.00
R7716:Plce1	UTSW	19	38,716,851 (GRCm38)	missense	probably benign
R7744:Plce1	UTSW	19	38,620,455 (GRCm38)	missense	possibly damaging	0.93
R7790:Plce1	UTSW	19	38,780,696 (GRCm38)	missense	probably damaging	0.97
R7921:Plce1	UTSW	19	38,620,553 (GRCm38)	missense	probably benign	0.03
R8070:Plce1	UTSW	19	38,701,839 (GRCm38)	missense	probably damaging	0.99
R8087:Plce1	UTSW	19	38,736,521 (GRCm38)	missense	probably damaging	1.00
R8116:Plce1	UTSW	19	38,524,818 (GRCm38)	missense	probably benign	0.32
R8178:Plce1	UTSW	19	38,772,979 (GRCm38)	missense	possibly damaging	0.93
R8321:Plce1	UTSW	19	38,651,936 (GRCm38)	missense	probably benign	0.00
R8416:Plce1	UTSW	19	38,772,997 (GRCm38)	missense	possibly damaging	0.77
R8544:Plce1	UTSW	19	38,524,459 (GRCm38)	missense	probably benign	0.00
R8713:Plce1	UTSW	19	38,524,901 (GRCm38)	missense	probably benign	0.01
R8850:Plce1	UTSW	19	38,524,367 (GRCm38)	missense	probably benign
R9217:Plce1	UTSW	19	38,760,107 (GRCm38)	missense	probably damaging	1.00
R9231:Plce1	UTSW	19	38,716,596 (GRCm38)	missense	probably benign	0.13
R9232:Plce1	UTSW	19	38,716,979 (GRCm38)	missense	probably benign	0.16
R9332:Plce1	UTSW	19	38,737,933 (GRCm38)	missense	probably damaging	1.00
R9473:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9474:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9475:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9476:Plce1	UTSW	19	38,777,893 (GRCm38)	missense	possibly damaging	0.93
R9751:Plce1	UTSW	19	38,728,970 (GRCm38)	missense	probably damaging	1.00
R9780:Plce1	UTSW	19	38,620,690 (GRCm38)	missense	possibly damaging	0.94
R9781:Plce1	UTSW	19	38,525,210 (GRCm38)	missense	probably damaging	1.00
RF018:Plce1	UTSW	19	38,717,207 (GRCm38)	missense	probably damaging	0.99
X0022:Plce1	UTSW	19	38,726,999 (GRCm38)	missense	probably damaging	1.00
X0065:Plce1	UTSW	19	38,777,914 (GRCm38)	missense	possibly damaging	0.48
Z1176:Plce1	UTSW	19	38,769,460 (GRCm38)	missense	probably damaging	1.00
Z1176:Plce1	UTSW	19	38,724,980 (GRCm38)	nonsense	probably null
Z1176:Plce1	UTSW	19	38,701,894 (GRCm38)	missense	probably damaging	1.00
Z1177:Plce1	UTSW	19	38,651,842 (GRCm38)	missense	probably null	0.48

Predicted Primers

PCR Primer
(F):5'- CATTCATGGTGGATGCAAAGG -3'
(R):5'- ATAACTGCTTTCCAAGACCCG -3'

Sequencing Primer
(F):5'- AAAGGTGGCAGACATTTGGTTC -3'
(R):5'- GACCCGCTGACTAGGAACTTTC -3'

Posted On

2019-09-13