Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:Mctp2'

285961

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: 0.156) question?

Stock #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71739953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 812 (Y812*)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079323] [ENSMUST00000206466]

AlphaFold

Q5RJH2

Predicted Effect

probably null
Transcript: ENSMUST00000079323
AA Change: Y812*

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: Y812*

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

probably benign
Transcript: ENSMUST00000206466

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,995,829 (GRCm39)	I1322N	probably benign	Het
Adamts1	A	T	16: 85,592,713 (GRCm39)	M565K	probably benign	Het
Akr1b7	T	A	6: 34,392,333 (GRCm39)	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,390,757 (GRCm39)	V363E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,605 (GRCm39)	T735I	probably damaging	Het
Cds1	T	A	5: 101,962,302 (GRCm39)	C306S	possibly damaging	Het
Cfap251	T	C	5: 123,440,486 (GRCm39)	Y1091H	probably damaging	Het
Clasp2	T	C	9: 113,709,088 (GRCm39)	C644R	probably damaging	Het
Coil	T	C	11: 88,872,580 (GRCm39)	S314P	probably benign	Het
D630045J12Rik	T	A	6: 38,173,329 (GRCm39)	M280L	probably benign	Het
Dmxl2	C	T	9: 54,352,717 (GRCm39)	V795M	probably damaging	Het
Dock10	A	G	1: 80,511,510 (GRCm39)	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,789,536 (GRCm39)	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Fmn1	T	C	2: 113,412,470 (GRCm39)	V870A	possibly damaging	Het
Ifi44	A	G	3: 151,438,019 (GRCm39)	*423Q	probably null	Het
Invs	T	C	4: 48,390,029 (GRCm39)	V173A	probably damaging	Het
Krt88	A	G	15: 101,350,486 (GRCm39)		probably benign	Het
Neto2	T	C	8: 86,396,292 (GRCm39)	I118V	probably damaging	Het
Nutm2	T	G	13: 50,625,075 (GRCm39)	M264R	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or8u8	T	C	2: 86,011,939 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 81,964,688 (GRCm39)	R285Q	probably damaging	Het
Pi16	G	T	17: 29,545,269 (GRCm39)	K177N	probably damaging	Het
Pigg	C	T	5: 108,466,794 (GRCm39)	S225F	possibly damaging	Het
Prrc2b	T	A	2: 32,103,429 (GRCm39)	V969E	probably damaging	Het
Rab4b	A	C	7: 26,872,154 (GRCm39)	Y189D	probably benign	Het
Ran	A	G	5: 129,099,246 (GRCm39)	N143D	possibly damaging	Het
Rfc4	A	T	16: 22,933,219 (GRCm39)	F286L	probably damaging	Het
Sel1l2	T	C	2: 140,089,859 (GRCm39)	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,482 (GRCm39)	I354V	probably benign	Het
Slc7a2	A	T	8: 41,361,193 (GRCm39)	T386S	probably benign	Het
Tm2d2	G	T	8: 25,512,787 (GRCm39)	V212F	probably benign	Het
Tmem247	A	T	17: 87,225,721 (GRCm39)	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,633,117 (GRCm39)	Y206N	probably benign	Het
Uba5	T	C	9: 103,931,259 (GRCm39)		probably benign	Het
Vmn2r54	A	G	7: 12,369,910 (GRCm39)	L51P	probably damaging	Het
Zfp735	A	G	11: 73,601,319 (GRCm39)	K88E	probably benign	Het

Other mutations in Mctp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Mctp2	APN	7	71,835,563 (GRCm39)	missense	probably damaging	0.96
IGL01296:Mctp2	APN	7	71,878,274 (GRCm39)	missense	probably benign	0.03
IGL01509:Mctp2	APN	7	71,909,017 (GRCm39)	missense	probably benign	0.01
IGL02074:Mctp2	APN	7	71,811,006 (GRCm39)	missense	probably damaging	0.99
IGL02185:Mctp2	APN	7	71,730,571 (GRCm39)	missense	probably benign	0.13
IGL02707:Mctp2	APN	7	71,909,089 (GRCm39)	missense	possibly damaging	0.95
IGL02820:Mctp2	APN	7	71,895,290 (GRCm39)	missense	probably damaging	0.99
IGL02869:Mctp2	APN	7	71,878,219 (GRCm39)	critical splice donor site	probably null
IGL03354:Mctp2	APN	7	71,810,992 (GRCm39)	missense	probably benign	0.00
IGL03397:Mctp2	APN	7	71,909,025 (GRCm39)	missense	probably damaging	0.98
IGL03407:Mctp2	APN	7	71,861,400 (GRCm39)	missense	probably benign	0.05
trifecta	UTSW	7	71,909,079 (GRCm39)	missense	possibly damaging	0.63
triumvirate	UTSW	7	71,861,438 (GRCm39)	missense	probably damaging	1.00
troika	UTSW	7	71,835,568 (GRCm39)	missense	probably damaging	1.00
F5770:Mctp2	UTSW	7	71,771,499 (GRCm39)	splice site	probably benign
PIT4131001:Mctp2	UTSW	7	71,740,005 (GRCm39)	missense	probably damaging	1.00
R0013:Mctp2	UTSW	7	71,879,156 (GRCm39)	missense	probably benign	0.00
R0079:Mctp2	UTSW	7	71,863,864 (GRCm39)	splice site	probably benign
R0083:Mctp2	UTSW	7	71,878,264 (GRCm39)	missense	possibly damaging	0.94
R0173:Mctp2	UTSW	7	71,896,855 (GRCm39)	critical splice donor site	probably null
R0302:Mctp2	UTSW	7	71,740,012 (GRCm39)	missense	possibly damaging	0.94
R0533:Mctp2	UTSW	7	71,730,570 (GRCm39)	missense	probably benign	0.00
R0675:Mctp2	UTSW	7	71,732,918 (GRCm39)	missense	probably damaging	1.00
R1076:Mctp2	UTSW	7	71,835,615 (GRCm39)	critical splice acceptor site	probably null
R1222:Mctp2	UTSW	7	71,908,887 (GRCm39)	missense	probably benign
R1356:Mctp2	UTSW	7	71,814,471 (GRCm39)	unclassified	probably benign
R1628:Mctp2	UTSW	7	71,861,337 (GRCm39)	splice site	probably null
R1649:Mctp2	UTSW	7	71,811,006 (GRCm39)	missense	probably damaging	0.99
R1981:Mctp2	UTSW	7	71,814,446 (GRCm39)	missense	probably benign	0.01
R2256:Mctp2	UTSW	7	71,835,568 (GRCm39)	missense	probably damaging	1.00
R2257:Mctp2	UTSW	7	71,835,568 (GRCm39)	missense	probably damaging	1.00
R2327:Mctp2	UTSW	7	71,861,358 (GRCm39)	missense	probably damaging	0.99
R2407:Mctp2	UTSW	7	71,850,155 (GRCm39)	missense	probably benign	0.40
R2471:Mctp2	UTSW	7	71,810,909 (GRCm39)	nonsense	probably null
R3706:Mctp2	UTSW	7	71,863,859 (GRCm39)	splice site	probably benign
R4023:Mctp2	UTSW	7	71,739,987 (GRCm39)	missense	possibly damaging	0.88
R4025:Mctp2	UTSW	7	71,739,987 (GRCm39)	missense	possibly damaging	0.88
R4176:Mctp2	UTSW	7	71,909,085 (GRCm39)	missense	probably benign
R4272:Mctp2	UTSW	7	71,909,079 (GRCm39)	missense	possibly damaging	0.63
R4498:Mctp2	UTSW	7	71,833,599 (GRCm39)	missense	probably damaging	1.00
R4654:Mctp2	UTSW	7	71,739,942 (GRCm39)	missense	probably damaging	1.00
R4815:Mctp2	UTSW	7	71,909,097 (GRCm39)	missense	possibly damaging	0.89
R4946:Mctp2	UTSW	7	71,909,017 (GRCm39)	missense	probably benign	0.00
R5389:Mctp2	UTSW	7	71,863,835 (GRCm39)	missense	possibly damaging	0.50
R5682:Mctp2	UTSW	7	71,895,207 (GRCm39)	critical splice donor site	probably null
R5878:Mctp2	UTSW	7	71,863,856 (GRCm39)	missense	probably benign	0.01
R5918:Mctp2	UTSW	7	71,878,288 (GRCm39)	missense	probably damaging	1.00
R5956:Mctp2	UTSW	7	71,908,923 (GRCm39)	missense	probably benign
R5964:Mctp2	UTSW	7	71,752,925 (GRCm39)	missense	probably damaging	0.97
R5978:Mctp2	UTSW	7	71,739,936 (GRCm39)	missense	probably damaging	1.00
R6054:Mctp2	UTSW	7	71,908,851 (GRCm39)	missense	probably benign
R6475:Mctp2	UTSW	7	71,850,092 (GRCm39)	critical splice donor site	probably null
R6849:Mctp2	UTSW	7	71,861,466 (GRCm39)	missense	probably damaging	1.00
R6963:Mctp2	UTSW	7	71,877,804 (GRCm39)	missense	probably damaging	1.00
R7366:Mctp2	UTSW	7	71,908,962 (GRCm39)	missense	probably benign	0.00
R7468:Mctp2	UTSW	7	71,861,438 (GRCm39)	missense	probably damaging	1.00
R7746:Mctp2	UTSW	7	71,835,544 (GRCm39)	missense	probably benign
R7765:Mctp2	UTSW	7	71,740,079 (GRCm39)	splice site	probably null
R7822:Mctp2	UTSW	7	71,776,935 (GRCm39)	missense	possibly damaging	0.90
R7984:Mctp2	UTSW	7	71,752,937 (GRCm39)	missense	possibly damaging	0.94
R8416:Mctp2	UTSW	7	71,852,210 (GRCm39)	missense	probably benign	0.12
R8678:Mctp2	UTSW	7	71,752,955 (GRCm39)	missense	probably damaging	1.00
R8819:Mctp2	UTSW	7	71,879,081 (GRCm39)	missense	probably benign	0.20
R8820:Mctp2	UTSW	7	71,879,081 (GRCm39)	missense	probably benign	0.20
R8835:Mctp2	UTSW	7	71,852,161 (GRCm39)	missense	probably benign	0.19
R8897:Mctp2	UTSW	7	71,909,311 (GRCm39)	start codon destroyed	probably benign	0.27
R8898:Mctp2	UTSW	7	71,752,904 (GRCm39)	missense	probably damaging	0.99
R9124:Mctp2	UTSW	7	71,909,178 (GRCm39)	missense	probably damaging	1.00
X0066:Mctp2	UTSW	7	71,909,028 (GRCm39)	nonsense	probably null
Z1191:Mctp2	UTSW	7	71,835,568 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16