Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Cplx3'

523294

Institutional Source

Beutler Lab

Gene Symbol

Cplx3

Ensembl Gene

ENSMUSG00000039714

Gene Name

complexin 3

Synonyms

CpxIII, Lman1l

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6113 (G1)

Quality Score

58.0073

Status

Validated

Chromosome

Chromosomal Location

57507275-57513564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57509723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 92 (I92F)

Ref Sequence

ENSEMBL: ENSMUSP00000046748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044937] [ENSMUST00000045068] [ENSMUST00000093832] [ENSMUST00000215487] [ENSMUST00000217015]

AlphaFold

Q8R1B5

Predicted Effect

probably benign
Transcript: ENSMUST00000044937

SMART Domains

Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	1.2e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045068
AA Change: I92F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046748
Gene: ENSMUSG00000039714
AA Change: I92F

Domain	Start	End	E-Value	Type
Pfam:Synaphin	1	139	5.7e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093832

SMART Domains

Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	2.7e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC
transmembrane domain	439	461	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000215487
AA Change: R62S

Predicted Effect

unknown
Transcript: ENSMUST00000217015
AA Change: R33S

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are fertile, viable and exhibit normal synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,390,764 (GRCm39)	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,343,998 (GRCm39)	C359*	probably null	Het
Atpsckmt	T	C	15: 31,608,308 (GRCm39)	Y120H	probably damaging	Het
Bpifb6	G	A	2: 153,752,651 (GRCm39)	E384K	probably benign	Het
Chtf18	G	A	17: 25,941,841 (GRCm39)	R544C	probably damaging	Het
Cilp2	T	C	8: 70,335,009 (GRCm39)	D663G	probably benign	Het
Cr1l	T	C	1: 194,813,719 (GRCm39)		probably benign	Het
Cyp1a1	T	A	9: 57,609,174 (GRCm39)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,397,240 (GRCm39)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,453,900 (GRCm39)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,275,192 (GRCm39)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,017,101 (GRCm39)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,898,448 (GRCm39)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,158,867 (GRCm39)	N121S	probably benign	Het
Dsp	T	A	13: 38,376,023 (GRCm39)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,586,848 (GRCm39)	V943A	probably benign	Het
Eml5	T	A	12: 98,790,933 (GRCm39)	K1322*	probably null	Het
Fgf23	A	G	6: 127,055,117 (GRCm39)	T76A	probably benign	Het
Fgf6	T	C	6: 126,992,900 (GRCm39)		probably null	Het
Fkbp15	G	A	4: 62,258,884 (GRCm39)	T124I	probably benign	Het
Gm12185	A	T	11: 48,806,167 (GRCm39)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,487,143 (GRCm39)		probably benign	Het
Lrp2	G	C	2: 69,313,901 (GRCm39)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm39)	T224A	probably benign	Het
Ly75	T	G	2: 60,199,217 (GRCm39)	I175L	probably benign	Het
Morc2b	G	T	17: 33,357,042 (GRCm39)	Y243*	probably null	Het
Myo18b	C	G	5: 113,014,251 (GRCm39)	D764H	probably damaging	Het
Naip6	T	C	13: 100,435,794 (GRCm39)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,261,422 (GRCm39)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,799,903 (GRCm39)	I430K	probably benign	Het
Pcdh9	A	G	14: 94,124,544 (GRCm39)	V542A	probably damaging	Het
Pkp3	T	A	7: 140,662,569 (GRCm39)	N60K	probably damaging	Het
Pold1	C	A	7: 44,187,124 (GRCm39)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,606,673 (GRCm39)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,132,173 (GRCm39)	R86S	probably benign	Het
Rad21l	A	C	2: 151,499,398 (GRCm39)	L265V	probably damaging	Het
Rec8	G	A	14: 55,859,935 (GRCm39)	A228T	probably damaging	Het
Rgs12	C	A	5: 35,177,667 (GRCm39)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,537,141 (GRCm39)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 44,824,175 (GRCm39)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,159,453 (GRCm39)		probably benign	Het
Srgap2	A	T	1: 131,283,243 (GRCm39)		probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Thpo	C	A	16: 20,547,597 (GRCm39)		probably benign	Het
Tle4	A	T	19: 14,572,952 (GRCm39)		probably null	Het
Tnfrsf14	T	C	4: 155,008,949 (GRCm39)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,887,182 (GRCm39)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,093,313 (GRCm39)	A82V	probably benign	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Trpv3	G	A	11: 73,176,844 (GRCm39)	V408I	probably benign	Het
Tyk2	A	T	9: 21,019,218 (GRCm39)	V1068E	probably damaging	Het
Usp35	A	G	7: 96,973,533 (GRCm39)	S230P	probably damaging	Het
Utp25	T	C	1: 192,811,810 (GRCm39)	I46V	probably null	Het
Vav1	T	A	17: 57,608,884 (GRCm39)	D349E	probably benign	Het
Vcan	T	A	13: 89,805,655 (GRCm39)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,955,557 (GRCm39)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,398,820 (GRCm39)	T720A	probably benign	Het
Wdr72	T	A	9: 74,059,923 (GRCm39)	D444E	probably benign	Het
Zfhx3	T	A	8: 109,674,053 (GRCm39)	M1701K	probably benign	Het

Other mutations in Cplx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Cplx3	APN	9	57,527,847 (GRCm39)	missense	probably damaging	1.00
IGL02268:Cplx3	APN	9	57,509,741 (GRCm39)	missense	possibly damaging	0.81
IGL03164:Cplx3	APN	9	57,517,278 (GRCm39)	missense	probably damaging	0.99
IGL03226:Cplx3	APN	9	57,517,290 (GRCm39)	missense	probably benign	0.43
PIT4283001:Cplx3	UTSW	9	57,523,359 (GRCm39)	missense	probably damaging	1.00
R0555:Cplx3	UTSW	9	57,521,384 (GRCm39)	missense	probably benign	0.15
R0601:Cplx3	UTSW	9	57,513,357 (GRCm39)	missense	possibly damaging	0.77
R1168:Cplx3	UTSW	9	57,515,595 (GRCm39)	missense	probably benign	0.00
R1169:Cplx3	UTSW	9	57,517,278 (GRCm39)	missense	probably damaging	0.99
R1591:Cplx3	UTSW	9	57,523,085 (GRCm39)	missense	probably benign	0.30
R2289:Cplx3	UTSW	9	57,520,941 (GRCm39)	missense	possibly damaging	0.76
R3848:Cplx3	UTSW	9	57,515,600 (GRCm39)	missense	possibly damaging	0.48
R4685:Cplx3	UTSW	9	57,516,483 (GRCm39)	missense	probably damaging	0.98
R5170:Cplx3	UTSW	9	57,522,902 (GRCm39)	nonsense	probably null
R5309:Cplx3	UTSW	9	57,518,360 (GRCm39)	missense	probably damaging	0.98
R5312:Cplx3	UTSW	9	57,518,360 (GRCm39)	missense	probably damaging	0.98
R5639:Cplx3	UTSW	9	57,519,149 (GRCm39)	missense	probably benign	0.24
R5655:Cplx3	UTSW	9	57,523,258 (GRCm39)	missense	probably damaging	1.00
R5905:Cplx3	UTSW	9	57,515,546 (GRCm39)	missense	probably damaging	1.00
R6011:Cplx3	UTSW	9	57,523,038 (GRCm39)	missense	probably damaging	1.00
R6028:Cplx3	UTSW	9	57,515,546 (GRCm39)	missense	probably damaging	1.00
R6035:Cplx3	UTSW	9	57,519,030 (GRCm39)	critical splice donor site	probably null
R6035:Cplx3	UTSW	9	57,519,030 (GRCm39)	critical splice donor site	probably null
R6250:Cplx3	UTSW	9	57,522,907 (GRCm39)	missense	probably benign	0.00
R6488:Cplx3	UTSW	9	57,527,926 (GRCm39)	missense	possibly damaging	0.73
R6489:Cplx3	UTSW	9	57,521,009 (GRCm39)	splice site	probably null
R6720:Cplx3	UTSW	9	57,521,355 (GRCm39)	splice site	probably null
R7000:Cplx3	UTSW	9	57,523,231 (GRCm39)	missense	probably benign	0.27
R7139:Cplx3	UTSW	9	57,522,879 (GRCm39)	missense	probably benign	0.37
R8822:Cplx3	UTSW	9	57,514,471 (GRCm39)	missense	probably benign	0.00
R9794:Cplx3	UTSW	9	57,509,522 (GRCm39)	makesense	probably null
R9800:Cplx3	UTSW	9	57,523,060 (GRCm39)	missense	probably damaging	0.99
X0057:Cplx3	UTSW	9	57,523,240 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCACTTCTCAGCTGATTGC -3'
(R):5'- GGTGTCTGCAAAGTCTCCAG -3'

Sequencing Primer
(F):5'- CTGATTGCTTGAGGTCCCCTAG -3'
(R):5'- CCCATGAAAGGCTTAACTCAGATGTG -3'

Posted On

2018-06-18