Mutagenetix > Incidental Mutation

Incidental Mutation 'R6767:Plch1'

531958

Institutional Source

Beutler Lab

Gene Symbol

Plch1

Ensembl Gene

ENSMUSG00000036834

Gene Name

phospholipase C, eta 1

Synonyms

Plcl3, PLCeta1

MMRRC Submission

044883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R6767 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63603655-63806893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63662765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 246 (M246K)

Ref Sequence

ENSEMBL: ENSMUSP00000124463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048134] [ENSMUST00000059973] [ENSMUST00000084105] [ENSMUST00000159676] [ENSMUST00000160638] [ENSMUST00000162269] [ENSMUST00000175947] [ENSMUST00000177143]

AlphaFold

Q4KWH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048134
AA Change: M228K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: M228K

Domain	Start	End	E-Value	Type
PH	3	112	2.37e-6	SMART
EFh	128	156	2.41e-4	SMART
EFh	164	193	1.54e-2	SMART
Pfam:EF-hand_like	198	280	2.2e-26	PFAM
PLCXc	281	426	3.13e-71	SMART
low complexity region	440	453	N/A	INTRINSIC
low complexity region	564	581	N/A	INTRINSIC
PLCYc	583	696	3.4e-49	SMART
C2	715	823	5.47e-22	SMART
low complexity region	979	997	N/A	INTRINSIC
low complexity region	1079	1091	N/A	INTRINSIC
low complexity region	1420	1435	N/A	INTRINSIC
low complexity region	1543	1557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000059973
AA Change: M246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	1.1e-8	SMART
EFh	146	174	1.1e-6	SMART
EFh	182	211	7.6e-5	SMART
Pfam:EF-hand_like	216	298	4.5e-24	PFAM
PLCXc	299	444	1.6e-73	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	582	599	N/A	INTRINSIC
PLCYc	601	714	1.7e-51	SMART
C2	733	841	3.7e-24	SMART
low complexity region	1017	1035	N/A	INTRINSIC
low complexity region	1117	1129	N/A	INTRINSIC
low complexity region	1458	1473	N/A	INTRINSIC
low complexity region	1581	1595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084105
AA Change: M246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	2.37e-6	SMART
EFh	146	174	2.41e-4	SMART
EFh	182	211	1.54e-2	SMART
Pfam:EF-hand_like	216	298	2.4e-27	PFAM
PLCXc	299	444	3.13e-71	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC
PLCYc	602	715	3.4e-49	SMART
C2	734	842	5.47e-22	SMART
low complexity region	1018	1036	N/A	INTRINSIC
low complexity region	1118	1130	N/A	INTRINSIC
low complexity region	1459	1474	N/A	INTRINSIC
low complexity region	1582	1596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159676
AA Change: M246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	2.37e-6	SMART
EFh	146	174	2.41e-4	SMART
EFh	182	211	1.54e-2	SMART
Pfam:EF-hand_like	216	298	1.8e-26	PFAM
PLCXc	299	444	3.13e-71	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC
PLCYc	602	715	3.4e-49	SMART
C2	734	842	5.47e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160638
AA Change: M246K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	2.37e-6	SMART
EFh	146	174	2.41e-4	SMART
EFh	182	211	1.54e-2	SMART
Pfam:EF-hand_like	216	298	5.3e-28	PFAM
PLCXc	299	444	3.13e-71	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC
PLCYc	602	715	3.4e-49	SMART
C2	734	842	5.47e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162269
AA Change: M246K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	2.37e-6	SMART
EFh	146	174	2.41e-4	SMART
EFh	182	211	1.54e-2	SMART
Pfam:EF-hand_like	216	298	1.7e-26	PFAM
PLCXc	299	444	3.13e-71	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	583	600	N/A	INTRINSIC
PLCYc	602	715	3.4e-49	SMART
C2	734	842	5.47e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000175947
AA Change: M246K

SMART Domains

Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: M246K

Domain	Start	End	E-Value	Type
PH	21	130	2.37e-6	SMART
EFh	146	174	2.41e-4	SMART
EFh	182	211	1.54e-2	SMART
Pfam:EF-hand_like	216	298	1.2e-26	PFAM
PLCXc	299	444	3.13e-71	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	582	599	N/A	INTRINSIC
PLCYc	601	714	3.4e-49	SMART
C2	733	841	5.47e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177143
AA Change: M258K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: M258K

Domain	Start	End	E-Value	Type
PH	33	142	2.37e-6	SMART
EFh	158	186	2.41e-4	SMART
EFh	194	223	1.54e-2	SMART
Pfam:EF-hand_like	228	310	2.3e-26	PFAM
PLCXc	311	456	3.13e-71	SMART
low complexity region	470	483	N/A	INTRINSIC
low complexity region	594	611	N/A	INTRINSIC
PLCYc	613	726	3.4e-49	SMART
C2	745	853	5.47e-22	SMART
low complexity region	1009	1027	N/A	INTRINSIC
low complexity region	1109	1121	N/A	INTRINSIC
low complexity region	1450	1465	N/A	INTRINSIC
low complexity region	1573	1587	N/A	INTRINSIC

Meta Mutation Damage Score

0.6760

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	A	8: 44,079,951 (GRCm39)	T91I	probably damaging	Het
Ak7	A	G	12: 105,732,866 (GRCm39)	N537D	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Atp8a2	A	G	14: 60,284,171 (GRCm39)	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888 (GRCm38)	T449S	probably damaging	Het
Ccdc33	C	G	9: 57,940,527 (GRCm39)	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,281,738 (GRCm39)	S14A	possibly damaging	Het
Cemip	G	A	7: 83,647,832 (GRCm39)	L83F	probably damaging	Het
Chrd	C	T	16: 20,557,376 (GRCm39)	P665L	probably benign	Het
Cib4	T	A	5: 30,691,589 (GRCm39)	H44L	probably benign	Het
Clic1	T	A	17: 35,272,029 (GRCm39)	L99Q	probably benign	Het
Cnst	C	T	1: 179,437,519 (GRCm39)	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,110,591 (GRCm39)	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,199,634 (GRCm39)	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,057,327 (GRCm39)	H282R	probably damaging	Het
Fasn	T	C	11: 120,708,313 (GRCm39)	I651V	possibly damaging	Het
Gas6	A	G	8: 13,515,784 (GRCm39)	S663P	probably damaging	Het
Gbp8	T	C	5: 105,166,478 (GRCm39)	M284V	probably benign	Het
Gm12695	T	C	4: 96,650,933 (GRCm39)		probably null	Het
Gm6034	T	A	17: 36,354,023 (GRCm39)	M1K	probably null	Het
Gm9376	A	G	14: 118,504,648 (GRCm39)	T27A	unknown	Het
Grid2	A	G	6: 63,907,999 (GRCm39)	D213G	probably benign	Het
Gsdma3	A	T	11: 98,528,710 (GRCm39)	D388V	possibly damaging	Het
H4c2	T	A	13: 23,941,005 (GRCm39)	M1K	probably null	Het
Hdac9	T	A	12: 34,337,528 (GRCm39)	H716L	probably damaging	Het
Hivep1	T	C	13: 42,308,203 (GRCm39)	S148P	probably damaging	Het
Kctd1	T	C	18: 15,195,232 (GRCm39)	T464A	possibly damaging	Het
Kera	A	G	10: 97,445,034 (GRCm39)	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,035,385 (GRCm39)	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,183,779 (GRCm39)	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,357,528 (GRCm39)		probably benign	Het
Mtss1	T	C	15: 58,825,430 (GRCm39)	S257G	probably benign	Het
N4bp2	T	C	5: 65,974,530 (GRCm39)	F1467L	probably damaging	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Nrg1	T	C	8: 32,407,923 (GRCm39)	I103M	probably damaging	Het
Or2w1b	C	T	13: 21,300,227 (GRCm39)	R122C	probably benign	Het
Orm3	C	T	4: 63,274,531 (GRCm39)	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pld4	A	C	12: 112,730,549 (GRCm39)	D144A	possibly damaging	Het
Prelp	C	A	1: 133,840,448 (GRCm39)	V345L	probably benign	Het
Rnf121	A	G	7: 101,672,619 (GRCm39)	F238L	probably damaging	Het
Rnf40	A	G	7: 127,195,757 (GRCm39)	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,375,321 (GRCm39)	V131G	probably benign	Het
Slc22a21	T	C	11: 53,870,328 (GRCm39)	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,094,409 (GRCm39)	F204S	probably damaging	Het
Smc6	T	A	12: 11,321,821 (GRCm39)	D29E	possibly damaging	Het
Smgc	T	A	15: 91,725,601 (GRCm39)	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,702,010 (GRCm39)	L630F	probably damaging	Het
Sphk1	A	G	11: 116,426,982 (GRCm39)	K306E	possibly damaging	Het
Spmip2	A	T	3: 79,337,330 (GRCm39)	D46V	probably benign	Het
Spsb1	C	T	4: 149,991,301 (GRCm39)	G89D	probably damaging	Het
Stat4	G	T	1: 52,115,742 (GRCm39)	M227I	probably benign	Het
Syngr4	A	G	7: 45,536,915 (GRCm39)	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,730,816 (GRCm39)	M1V	probably null	Het
Tcf7l1	T	G	6: 72,608,275 (GRCm39)	K355Q	probably damaging	Het
Tmem192	T	C	8: 65,416,888 (GRCm39)	S36P	probably damaging	Het
Top3a	G	T	11: 60,641,579 (GRCm39)	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,323,727 (GRCm39)	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,029,345 (GRCm39)	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,367,206 (GRCm39)	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,923,139 (GRCm39)	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,327,807 (GRCm39)	L467H	probably damaging	Het
Wdr59	G	T	8: 112,202,733 (GRCm39)	S603R	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,704,527 (GRCm39)	K74N	probably null	Het
Zfyve16	A	G	13: 92,644,707 (GRCm39)	L1165P	probably damaging	Het

Other mutations in Plch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Plch1	APN	3	63,639,150 (GRCm39)	splice site	probably null
IGL01542:Plch1	APN	3	63,639,070 (GRCm39)	missense	probably damaging	0.99
IGL01999:Plch1	APN	3	63,660,728 (GRCm39)	missense	probably damaging	1.00
IGL02153:Plch1	APN	3	63,688,772 (GRCm39)	missense	probably damaging	1.00
IGL02203:Plch1	APN	3	63,606,160 (GRCm39)	missense	possibly damaging	0.46
IGL02220:Plch1	APN	3	63,606,382 (GRCm39)	missense	probably damaging	0.97
IGL02259:Plch1	APN	3	63,630,170 (GRCm39)	critical splice donor site	probably null
IGL02268:Plch1	APN	3	63,606,704 (GRCm39)	makesense	probably null
IGL02411:Plch1	APN	3	63,605,177 (GRCm39)	splice site	probably null
IGL02472:Plch1	APN	3	63,609,270 (GRCm39)	missense	probably damaging	1.00
IGL02477:Plch1	APN	3	63,660,714 (GRCm39)	missense	probably damaging	1.00
IGL02503:Plch1	APN	3	63,605,285 (GRCm39)	missense	probably damaging	1.00
IGL02800:Plch1	APN	3	63,605,899 (GRCm39)	missense	probably benign	0.21
IGL03167:Plch1	APN	3	63,630,165 (GRCm39)	splice site	probably benign
IGL03182:Plch1	APN	3	63,610,015 (GRCm39)	nonsense	probably null
IGL03197:Plch1	APN	3	63,660,591 (GRCm39)	missense	probably damaging	1.00
IGL03251:Plch1	APN	3	63,691,423 (GRCm39)	missense	possibly damaging	0.93
BB009:Plch1	UTSW	3	63,609,402 (GRCm39)	missense	probably benign	0.05
BB019:Plch1	UTSW	3	63,609,402 (GRCm39)	missense	probably benign	0.05
R0335:Plch1	UTSW	3	63,618,399 (GRCm39)	missense	probably damaging	1.00
R0347:Plch1	UTSW	3	63,660,737 (GRCm39)	missense	probably damaging	1.00
R0631:Plch1	UTSW	3	63,606,640 (GRCm39)	missense	probably benign	0.23
R0687:Plch1	UTSW	3	63,623,450 (GRCm39)	missense	probably damaging	1.00
R0738:Plch1	UTSW	3	63,609,974 (GRCm39)	intron	probably benign
R0883:Plch1	UTSW	3	63,660,677 (GRCm39)	missense	probably damaging	1.00
R1437:Plch1	UTSW	3	63,604,954 (GRCm39)	missense	probably benign	0.37
R1678:Plch1	UTSW	3	63,648,115 (GRCm39)	missense	probably damaging	1.00
R1738:Plch1	UTSW	3	63,626,659 (GRCm39)	missense	probably benign	0.12
R1929:Plch1	UTSW	3	63,651,956 (GRCm39)	missense	probably damaging	1.00
R1955:Plch1	UTSW	3	63,662,688 (GRCm39)	missense	probably damaging	0.98
R2078:Plch1	UTSW	3	63,609,364 (GRCm39)	missense	probably benign	0.01
R2112:Plch1	UTSW	3	63,630,227 (GRCm39)	missense	probably damaging	1.00
R2158:Plch1	UTSW	3	63,628,655 (GRCm39)	missense	probably benign	0.00
R2165:Plch1	UTSW	3	63,605,903 (GRCm39)	missense	probably benign	0.01
R2259:Plch1	UTSW	3	63,605,398 (GRCm39)	missense	possibly damaging	0.94
R2271:Plch1	UTSW	3	63,651,956 (GRCm39)	missense	probably damaging	1.00
R3110:Plch1	UTSW	3	63,616,952 (GRCm39)	missense	probably damaging	1.00
R3112:Plch1	UTSW	3	63,616,952 (GRCm39)	missense	probably damaging	1.00
R3407:Plch1	UTSW	3	63,606,768 (GRCm39)	unclassified	probably benign
R3408:Plch1	UTSW	3	63,606,768 (GRCm39)	unclassified	probably benign
R3791:Plch1	UTSW	3	63,606,944 (GRCm39)	missense	probably benign
R3793:Plch1	UTSW	3	63,605,252 (GRCm39)	missense	probably damaging	0.96
R3928:Plch1	UTSW	3	63,675,044 (GRCm39)	missense	probably damaging	1.00
R4211:Plch1	UTSW	3	63,618,640 (GRCm39)	missense	probably damaging	1.00
R4212:Plch1	UTSW	3	63,778,180 (GRCm39)	start gained	probably benign
R4223:Plch1	UTSW	3	63,609,321 (GRCm39)	missense	probably damaging	1.00
R4491:Plch1	UTSW	3	63,648,160 (GRCm39)	missense	probably damaging	1.00
R4589:Plch1	UTSW	3	63,688,928 (GRCm39)	missense	probably damaging	1.00
R4656:Plch1	UTSW	3	63,611,598 (GRCm39)	missense	probably damaging	1.00
R4701:Plch1	UTSW	3	63,606,917 (GRCm39)	splice site	probably null
R4716:Plch1	UTSW	3	63,688,967 (GRCm39)	missense	probably damaging	1.00
R4772:Plch1	UTSW	3	63,660,746 (GRCm39)	missense	probably damaging	1.00
R4902:Plch1	UTSW	3	63,648,264 (GRCm39)	intron	probably benign
R5058:Plch1	UTSW	3	63,630,202 (GRCm39)	missense	probably damaging	1.00
R5092:Plch1	UTSW	3	63,606,131 (GRCm39)	missense	probably benign	0.02
R5093:Plch1	UTSW	3	63,681,136 (GRCm39)	missense	probably damaging	0.99
R5210:Plch1	UTSW	3	63,607,199 (GRCm39)	critical splice donor site	probably null
R5368:Plch1	UTSW	3	63,609,394 (GRCm39)	missense	possibly damaging	0.82
R5373:Plch1	UTSW	3	63,605,499 (GRCm39)	missense	probably benign	0.01
R5374:Plch1	UTSW	3	63,605,499 (GRCm39)	missense	probably benign	0.01
R5501:Plch1	UTSW	3	63,615,162 (GRCm39)	missense	probably damaging	1.00
R5606:Plch1	UTSW	3	63,648,108 (GRCm39)	missense	probably benign	0.35
R5738:Plch1	UTSW	3	63,681,076 (GRCm39)	missense	probably damaging	1.00
R5835:Plch1	UTSW	3	63,604,943 (GRCm39)	missense	probably benign
R6106:Plch1	UTSW	3	63,609,444 (GRCm39)	missense	probably damaging	1.00
R6107:Plch1	UTSW	3	63,609,444 (GRCm39)	missense	probably damaging	1.00
R6108:Plch1	UTSW	3	63,609,444 (GRCm39)	missense	probably damaging	1.00
R6110:Plch1	UTSW	3	63,606,279 (GRCm39)	missense	possibly damaging	0.62
R6116:Plch1	UTSW	3	63,609,444 (GRCm39)	missense	probably damaging	1.00
R6147:Plch1	UTSW	3	63,630,302 (GRCm39)	missense	probably damaging	1.00
R6195:Plch1	UTSW	3	63,648,210 (GRCm39)	missense	probably damaging	1.00
R6315:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6316:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6317:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6318:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6324:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6325:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6326:Plch1	UTSW	3	63,688,811 (GRCm39)	nonsense	probably null
R6479:Plch1	UTSW	3	63,651,931 (GRCm39)	missense	probably benign	0.06
R6544:Plch1	UTSW	3	63,758,399 (GRCm39)	missense	probably damaging	1.00
R6829:Plch1	UTSW	3	63,604,939 (GRCm39)	missense	probably damaging	0.99
R6891:Plch1	UTSW	3	63,605,504 (GRCm39)	missense	probably benign
R6893:Plch1	UTSW	3	63,660,562 (GRCm39)	nonsense	probably null
R6921:Plch1	UTSW	3	63,615,155 (GRCm39)	missense	possibly damaging	0.90
R7298:Plch1	UTSW	3	63,623,458 (GRCm39)	nonsense	probably null
R7396:Plch1	UTSW	3	63,606,375 (GRCm39)	missense	probably benign	0.00
R7420:Plch1	UTSW	3	63,630,278 (GRCm39)	missense	probably damaging	1.00
R7566:Plch1	UTSW	3	63,688,663 (GRCm39)	splice site	probably null
R7572:Plch1	UTSW	3	63,648,105 (GRCm39)	missense	possibly damaging	0.89
R7649:Plch1	UTSW	3	63,605,590 (GRCm39)	nonsense	probably null
R7696:Plch1	UTSW	3	63,662,726 (GRCm39)	missense	probably benign
R7851:Plch1	UTSW	3	63,605,855 (GRCm39)	missense	probably damaging	0.99
R7853:Plch1	UTSW	3	63,681,068 (GRCm39)	missense	probably benign	0.44
R7932:Plch1	UTSW	3	63,609,402 (GRCm39)	missense	probably benign	0.05
R7983:Plch1	UTSW	3	63,615,164 (GRCm39)	missense	probably damaging	1.00
R8057:Plch1	UTSW	3	63,605,557 (GRCm39)	missense	probably benign
R8066:Plch1	UTSW	3	63,618,478 (GRCm39)	nonsense	probably null
R8206:Plch1	UTSW	3	63,610,047 (GRCm39)	splice site	probably null
R8678:Plch1	UTSW	3	63,623,468 (GRCm39)	nonsense	probably null
R8731:Plch1	UTSW	3	63,605,059 (GRCm39)	missense	probably benign	0.37
R8739:Plch1	UTSW	3	63,778,106 (GRCm39)	missense	possibly damaging	0.66
R8853:Plch1	UTSW	3	63,688,967 (GRCm39)	missense	probably damaging	1.00
R8875:Plch1	UTSW	3	63,618,391 (GRCm39)	missense	probably damaging	1.00
R8945:Plch1	UTSW	3	63,639,039 (GRCm39)	missense	probably benign	0.02
R8947:Plch1	UTSW	3	63,691,547 (GRCm39)	missense	probably damaging	0.99
R8953:Plch1	UTSW	3	63,639,126 (GRCm39)	missense	possibly damaging	0.94
R9065:Plch1	UTSW	3	63,674,924 (GRCm39)	missense	probably damaging	1.00
R9068:Plch1	UTSW	3	63,612,036 (GRCm39)	missense	probably damaging	1.00
R9188:Plch1	UTSW	3	63,639,075 (GRCm39)	missense	probably null	1.00
R9238:Plch1	UTSW	3	63,606,412 (GRCm39)	missense	possibly damaging	0.53
R9478:Plch1	UTSW	3	63,606,825 (GRCm39)	missense	probably benign	0.01
R9526:Plch1	UTSW	3	63,758,549 (GRCm39)	intron	probably benign
R9539:Plch1	UTSW	3	63,691,427 (GRCm39)	missense	probably null	0.01
R9634:Plch1	UTSW	3	63,605,152 (GRCm39)	missense	probably damaging	1.00
R9643:Plch1	UTSW	3	63,660,747 (GRCm39)	missense
R9659:Plch1	UTSW	3	63,681,136 (GRCm39)	missense	probably benign	0.17
R9711:Plch1	UTSW	3	63,615,176 (GRCm39)	missense	probably damaging	1.00
R9788:Plch1	UTSW	3	63,681,136 (GRCm39)	missense	probably benign	0.17
R9799:Plch1	UTSW	3	63,605,591 (GRCm39)	missense	possibly damaging	0.89
RF018:Plch1	UTSW	3	63,628,636 (GRCm39)	missense	probably damaging	1.00
X0028:Plch1	UTSW	3	63,651,930 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTGGGCTTCAACAAATATTTCCC -3'
(R):5'- CTAAAGCTGACAGGTGCCTAGG -3'

Sequencing Primer
(F):5'- CCCATTTTTGCTTCCTAAGAACTG -3'
(R):5'- GGAAGGGTAACATGATAATCACCCTC -3'

Posted On

2018-08-29