Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Mctp2'

73143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

72077830-72306608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72228526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 268 (K268R)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079323]

AlphaFold

Q5RJH2

Predicted Effect

probably benign
Transcript: ENSMUST00000079323
AA Change: K268R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: K268R

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
C2	195	291	7.5e-20	SMART
C2	357	451	1.27e-8	SMART
C2	510	606	5.38e-21	SMART
transmembrane domain	696	718	N/A	INTRINSIC
Pfam:PRT_C	723	857	2.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206976

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Mctp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Mctp2	APN	7	72185815	missense	probably damaging	0.96
IGL01509:Mctp2	APN	7	72259269	missense	probably benign	0.01
IGL02074:Mctp2	APN	7	72161258	missense	probably damaging	0.99
IGL02185:Mctp2	APN	7	72080823	missense	probably benign	0.13
IGL02238:Mctp2	APN	7	72090205	nonsense	probably null
IGL02707:Mctp2	APN	7	72259341	missense	possibly damaging	0.95
IGL02820:Mctp2	APN	7	72245542	missense	probably damaging	0.99
IGL02869:Mctp2	APN	7	72228471	critical splice donor site	probably null
IGL03354:Mctp2	APN	7	72161244	missense	probably benign	0.00
IGL03397:Mctp2	APN	7	72259277	missense	probably damaging	0.98
IGL03407:Mctp2	APN	7	72211652	missense	probably benign	0.05
trifecta	UTSW	7	72259331	missense	possibly damaging	0.63
triumvirate	UTSW	7	72211690	missense	probably damaging	1.00
troika	UTSW	7	72185820	missense	probably damaging	1.00
F5770:Mctp2	UTSW	7	72121751	splice site	probably benign
PIT4131001:Mctp2	UTSW	7	72090257	missense	probably damaging	1.00
R0013:Mctp2	UTSW	7	72229408	missense	probably benign	0.00
R0079:Mctp2	UTSW	7	72214116	splice site	probably benign
R0083:Mctp2	UTSW	7	72228516	missense	possibly damaging	0.94
R0173:Mctp2	UTSW	7	72247107	critical splice donor site	probably null
R0302:Mctp2	UTSW	7	72090264	missense	possibly damaging	0.94
R0533:Mctp2	UTSW	7	72080822	missense	probably benign	0.00
R0675:Mctp2	UTSW	7	72083170	missense	probably damaging	1.00
R1076:Mctp2	UTSW	7	72185867	critical splice acceptor site	probably null
R1222:Mctp2	UTSW	7	72259139	missense	probably benign
R1356:Mctp2	UTSW	7	72164723	unclassified	probably benign
R1628:Mctp2	UTSW	7	72211589	splice site	probably null
R1649:Mctp2	UTSW	7	72161258	missense	probably damaging	0.99
R1981:Mctp2	UTSW	7	72164698	missense	probably benign	0.01
R2256:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00
R2257:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00
R2327:Mctp2	UTSW	7	72211610	missense	probably damaging	0.99
R2407:Mctp2	UTSW	7	72200407	missense	probably benign	0.40
R2471:Mctp2	UTSW	7	72161161	nonsense	probably null
R3706:Mctp2	UTSW	7	72214111	splice site	probably benign
R4023:Mctp2	UTSW	7	72090239	missense	possibly damaging	0.88
R4025:Mctp2	UTSW	7	72090239	missense	possibly damaging	0.88
R4176:Mctp2	UTSW	7	72259337	missense	probably benign
R4272:Mctp2	UTSW	7	72259331	missense	possibly damaging	0.63
R4498:Mctp2	UTSW	7	72183851	missense	probably damaging	1.00
R4654:Mctp2	UTSW	7	72090194	missense	probably damaging	1.00
R4815:Mctp2	UTSW	7	72259349	missense	possibly damaging	0.89
R4946:Mctp2	UTSW	7	72259269	missense	probably benign	0.00
R5389:Mctp2	UTSW	7	72214087	missense	possibly damaging	0.50
R5682:Mctp2	UTSW	7	72245459	critical splice donor site	probably null
R5878:Mctp2	UTSW	7	72214108	missense	probably benign	0.01
R5918:Mctp2	UTSW	7	72228540	missense	probably damaging	1.00
R5956:Mctp2	UTSW	7	72259175	missense	probably benign
R5964:Mctp2	UTSW	7	72103177	missense	probably damaging	0.97
R5978:Mctp2	UTSW	7	72090188	missense	probably damaging	1.00
R6054:Mctp2	UTSW	7	72259103	missense	probably benign
R6475:Mctp2	UTSW	7	72200344	critical splice donor site	probably null
R6849:Mctp2	UTSW	7	72211718	missense	probably damaging	1.00
R6963:Mctp2	UTSW	7	72228056	missense	probably damaging	1.00
R7366:Mctp2	UTSW	7	72259214	missense	probably benign	0.00
R7468:Mctp2	UTSW	7	72211690	missense	probably damaging	1.00
R7746:Mctp2	UTSW	7	72185796	missense	probably benign
R7765:Mctp2	UTSW	7	72090331	splice site	probably null
R7822:Mctp2	UTSW	7	72127187	missense	possibly damaging	0.90
R7984:Mctp2	UTSW	7	72103189	missense	possibly damaging	0.94
R8416:Mctp2	UTSW	7	72202462	missense	probably benign	0.12
R8678:Mctp2	UTSW	7	72103207	missense	probably damaging	1.00
R8819:Mctp2	UTSW	7	72229333	missense	probably benign	0.20
R8820:Mctp2	UTSW	7	72229333	missense	probably benign	0.20
R8835:Mctp2	UTSW	7	72202413	missense	probably benign	0.19
R8897:Mctp2	UTSW	7	72259563	start codon destroyed	probably benign	0.27
R8898:Mctp2	UTSW	7	72103156	missense	probably damaging	0.99
R9124:Mctp2	UTSW	7	72259430	missense	probably damaging	1.00
X0066:Mctp2	UTSW	7	72259280	nonsense	probably null
Z1191:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00

Posted On

2013-10-07