Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03354:Mctp2'

419856

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: 0.174) question?

Stock #

IGL03354

Quality Score

Status

Chromosome

Chromosomal Location

72077830-72306608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72161244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 661 (V661I)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079323] [ENSMUST00000205410]

AlphaFold

Q5RJH2

Predicted Effect

probably benign
Transcript: ENSMUST00000079323
AA Change: V661I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: V661I

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

unknown
Transcript: ENSMUST00000205410
AA Change: C24Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206991

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,646,779	A309T	possibly damaging	Het
Abca15	C	A	7: 120,394,488	Y1310*	probably null	Het
Adad1	G	T	3: 37,106,173	C552F	probably damaging	Het
Adam22	A	G	5: 8,158,890	S180P	possibly damaging	Het
Anxa10	A	T	8: 62,096,744	D22E	probably damaging	Het
Astn1	T	C	1: 158,688,604	S1255P	probably damaging	Het
Bhlhe41	T	C	6: 145,864,203	T92A	probably damaging	Het
Bicc1	G	A	10: 70,946,602	P603S	probably benign	Het
Camk2d	T	C	3: 126,796,966		probably null	Het
Ccdc136	T	A	6: 29,419,103	I808N	probably damaging	Het
Cd200r3	C	T	16: 44,953,597	A124V	possibly damaging	Het
Cfap70	T	C	14: 20,431,982	E310G	probably damaging	Het
Cyp2d12	A	T	15: 82,558,961	D357V	probably damaging	Het
Dnah7b	G	A	1: 46,085,689	V173I	probably damaging	Het
Dnajb4	T	A	3: 152,186,478	E239D	probably benign	Het
Dzip1	G	A	14: 118,912,569		probably benign	Het
Emp2	A	G	16: 10,285,565	I74T	probably damaging	Het
Ermn	T	G	2: 58,052,622	E32A	probably benign	Het
F10	C	A	8: 13,045,089	T82N	probably benign	Het
Fam227a	T	C	15: 79,636,750	D295G	possibly damaging	Het
Gm527	T	A	12: 64,922,380	F194I	probably damaging	Het
Gmcl1	G	A	6: 86,726,158	T98M	probably damaging	Het
Gucy2g	T	C	19: 55,233,080	R330G	possibly damaging	Het
Hist1h1e	C	T	13: 23,622,077		probably benign	Het
Kif1a	T	C	1: 93,060,235	H549R	probably damaging	Het
Klhl14	T	A	18: 21,651,728	D214V	probably damaging	Het
Lipo2	A	G	19: 33,730,870	F248S	probably benign	Het
Myh15	A	T	16: 49,172,010	M1616L	probably benign	Het
Nlrp4b	A	T	7: 10,714,538	I223F	probably damaging	Het
Olfr1133	T	C	2: 87,645,595	N176S	probably damaging	Het
Olfr1367	T	C	13: 21,347,516	V196A	possibly damaging	Het
Olfr1368	T	C	13: 21,142,484	Y191C	probably damaging	Het
Olfr140	A	C	2: 90,051,567	C252W	probably damaging	Het
Olfr347	A	T	2: 36,734,512	S64C	possibly damaging	Het
Olfr347	G	T	2: 36,734,513	S64I	possibly damaging	Het
Olfr508	T	A	7: 108,630,528	C179S	possibly damaging	Het
Olfr706	A	G	7: 106,886,100	V239A	probably benign	Het
Pcsk4	T	C	10: 80,326,059	D116G	probably damaging	Het
Pibf1	A	G	14: 99,150,738	D440G	probably benign	Het
Plekho2	T	C	9: 65,559,421	E129G	probably null	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Rars	A	G	11: 35,824,475	L248P	probably damaging	Het
Ruvbl1	C	A	6: 88,479,215	Y90*	probably null	Het
Schip1	A	G	3: 68,494,965	D125G	possibly damaging	Het
Smarca2	T	C	19: 26,619,903	S62P	probably benign	Het
Sort1	T	C	3: 108,348,706	V656A	probably benign	Het
Tlr12	A	G	4: 128,615,937	L840P	probably damaging	Het
Trpm3	T	A	19: 22,856,718	I438N	probably damaging	Het
Ttc37	T	C	13: 76,182,822	V1457A	possibly damaging	Het
Wdr11	C	A	7: 129,625,302	F829L	probably benign	Het
Zdhhc11	A	T	13: 73,979,145	I214F	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
IGL01296:Mctp2	APN	7	72228526	missense	probably benign	0.03
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
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

2016-08-02