Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Plcl1'

436977

Institutional Source

Beutler Lab

Gene Symbol

Plcl1

Ensembl Gene

ENSMUSG00000038349

Gene Name

phospholipase C-like 1

Synonyms

C230017K02Rik, PRIP-1, PLC-L

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55445080-55793444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55735309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 217 (S217P)

Ref Sequence

ENSEMBL: ENSMUSP00000037854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042986]

AlphaFold

Q3USB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042986
AA Change: S217P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: S217P

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
PH	115	226	6.98e-4	SMART
low complexity region	301	310	N/A	INTRINSIC
Pfam:EF-hand_like	316	398	5.9e-27	PFAM
PLCXc	399	543	2.13e-82	SMART
low complexity region	550	564	N/A	INTRINSIC
PLCYc	586	702	2.15e-69	SMART
C2	723	829	1.02e-21	SMART
low complexity region	1080	1092	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants display impaired motor coordination and decreased sensitivity to the sedative diazepam. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Abl1	C	T	2: 31,669,086 (GRCm39)	A155V	probably damaging	Het
Aco2	T	A	15: 81,787,787 (GRCm39)	D212E	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Cilp	A	C	9: 65,187,515 (GRCm39)	R1203S	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Ep400	A	T	5: 110,904,071 (GRCm39)	V176E	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,065,777 (GRCm39)	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	probably benign	Het

Other mutations in Plcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Plcl1	APN	1	55,445,695 (GRCm39)	missense	probably benign
IGL00491:Plcl1	APN	1	55,752,657 (GRCm39)	critical splice donor site	probably null
IGL00753:Plcl1	APN	1	55,735,897 (GRCm39)	missense	probably damaging	1.00
IGL01415:Plcl1	APN	1	55,735,555 (GRCm39)	missense	possibly damaging	0.92
IGL03024:Plcl1	APN	1	55,734,946 (GRCm39)	missense	probably damaging	1.00
K3955:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
PIT4791001:Plcl1	UTSW	1	55,741,090 (GRCm39)	missense	probably benign	0.03
R0066:Plcl1	UTSW	1	55,752,634 (GRCm39)	missense	probably damaging	0.99
R0066:Plcl1	UTSW	1	55,752,634 (GRCm39)	missense	probably damaging	0.99
R0083:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
R0086:Plcl1	UTSW	1	55,754,742 (GRCm39)	missense	probably damaging	1.00
R0092:Plcl1	UTSW	1	55,735,924 (GRCm39)	missense	probably damaging	0.98
R0108:Plcl1	UTSW	1	55,737,098 (GRCm39)	missense	possibly damaging	0.78
R1716:Plcl1	UTSW	1	55,734,997 (GRCm39)	missense	probably damaging	0.99
R2061:Plcl1	UTSW	1	55,790,504 (GRCm39)	missense	probably benign	0.01
R2128:Plcl1	UTSW	1	55,736,997 (GRCm39)	missense	probably damaging	1.00
R2869:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2869:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2870:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2870:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2872:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2872:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R2873:Plcl1	UTSW	1	55,736,309 (GRCm39)	missense	probably benign	0.09
R3819:Plcl1	UTSW	1	55,735,758 (GRCm39)	missense	probably benign
R3974:Plcl1	UTSW	1	55,737,374 (GRCm39)	missense	probably benign	0.30
R3975:Plcl1	UTSW	1	55,737,374 (GRCm39)	missense	probably benign	0.30
R4214:Plcl1	UTSW	1	55,790,494 (GRCm39)	nonsense	probably null
R4400:Plcl1	UTSW	1	55,754,736 (GRCm39)	missense	probably damaging	1.00
R4452:Plcl1	UTSW	1	55,736,045 (GRCm39)	missense	probably benign	0.00
R4615:Plcl1	UTSW	1	55,737,293 (GRCm39)	missense	probably benign	0.00
R5060:Plcl1	UTSW	1	55,735,671 (GRCm39)	missense	possibly damaging	0.84
R5422:Plcl1	UTSW	1	55,736,543 (GRCm39)	missense	probably benign	0.00
R5781:Plcl1	UTSW	1	55,735,148 (GRCm39)	missense	possibly damaging	0.92
R5809:Plcl1	UTSW	1	55,735,160 (GRCm39)	missense	probably damaging	1.00
R6009:Plcl1	UTSW	1	55,735,405 (GRCm39)	missense	probably damaging	1.00
R6339:Plcl1	UTSW	1	55,735,474 (GRCm39)	missense	probably damaging	1.00
R6431:Plcl1	UTSW	1	55,736,411 (GRCm39)	missense	probably benign	0.03
R6534:Plcl1	UTSW	1	55,735,907 (GRCm39)	missense	probably damaging	1.00
R6565:Plcl1	UTSW	1	55,737,117 (GRCm39)	nonsense	probably null
R6678:Plcl1	UTSW	1	55,734,935 (GRCm39)	missense	probably benign	0.13
R6773:Plcl1	UTSW	1	55,790,461 (GRCm39)	missense	probably benign	0.03
R6925:Plcl1	UTSW	1	55,445,757 (GRCm39)	nonsense	probably null
R7168:Plcl1	UTSW	1	55,736,622 (GRCm39)	missense	probably damaging	1.00
R7256:Plcl1	UTSW	1	55,737,377 (GRCm39)	missense	probably benign	0.45
R7522:Plcl1	UTSW	1	55,735,523 (GRCm39)	missense	probably benign	0.31
R7527:Plcl1	UTSW	1	55,736,273 (GRCm39)	missense	probably damaging	1.00
R7536:Plcl1	UTSW	1	55,752,640 (GRCm39)	nonsense	probably null
R7585:Plcl1	UTSW	1	55,445,608 (GRCm39)	missense	probably benign	0.00
R7591:Plcl1	UTSW	1	55,736,608 (GRCm39)	missense	probably benign	0.01
R7689:Plcl1	UTSW	1	55,736,627 (GRCm39)	missense	probably damaging	1.00
R7960:Plcl1	UTSW	1	55,736,443 (GRCm39)	missense	possibly damaging	0.48
R8029:Plcl1	UTSW	1	55,735,237 (GRCm39)	missense	probably benign	0.26
R8241:Plcl1	UTSW	1	55,734,976 (GRCm39)	missense	probably benign	0.01
R8323:Plcl1	UTSW	1	55,736,895 (GRCm39)	missense	possibly damaging	0.58
R9000:Plcl1	UTSW	1	55,736,990 (GRCm39)	missense	probably damaging	1.00
R9331:Plcl1	UTSW	1	55,736,030 (GRCm39)	missense	possibly damaging	0.95
R9358:Plcl1	UTSW	1	55,735,810 (GRCm39)	missense	probably damaging	1.00
R9432:Plcl1	UTSW	1	55,445,587 (GRCm39)	missense	probably benign
R9452:Plcl1	UTSW	1	55,734,992 (GRCm39)	missense	probably damaging	1.00
R9652:Plcl1	UTSW	1	55,735,450 (GRCm39)	missense	probably benign	0.00
R9802:Plcl1	UTSW	1	55,735,241 (GRCm39)	missense	probably damaging	0.98
Z1176:Plcl1	UTSW	1	55,790,443 (GRCm39)	nonsense	probably null
Z1176:Plcl1	UTSW	1	55,735,199 (GRCm39)	missense	probably benign	0.20
Z1177:Plcl1	UTSW	1	55,736,043 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGACATTTCTGCCATCAAAGAG -3'
(R):5'- TCTGTCACCCGGGTAGTTAG -3'

Sequencing Primer
(F):5'- TTTCTGCCATCAAAGAGATCAGGC -3'
(R):5'- CCTGATCTTAGATTCCTTCAGAGTAG -3'

Posted On

2016-10-24