Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02074:Mctp2'

283355

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: 0.126) question?

Stock #

IGL02074

Quality Score

Status

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71811006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 656 (I656K)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079323
AA Change: I656K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: I656K

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: ENSMUST00000205410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206991

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,184,176 (GRCm39)	S974G	probably benign	Het
Abi2	T	C	1: 60,486,466 (GRCm39)	V209A	probably damaging	Het
Ankrd33b	C	A	15: 31,297,807 (GRCm39)	V317F	probably damaging	Het
Arcn1	A	G	9: 44,670,309 (GRCm39)	C106R	probably benign	Het
Arhgap35	T	C	7: 16,296,980 (GRCm39)	H695R	probably benign	Het
Bag4	G	T	8: 26,259,383 (GRCm39)	T272K	possibly damaging	Het
Cnot6	T	C	11: 49,580,070 (GRCm39)	H74R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dab1	C	A	4: 104,585,051 (GRCm39)	A397D	possibly damaging	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dixdc1	C	T	9: 50,613,317 (GRCm39)	V212M	probably benign	Het
Dnaaf11	T	C	15: 66,361,339 (GRCm39)	N54S	probably damaging	Het
Eea1	A	G	10: 95,873,349 (GRCm39)	E1137G	probably damaging	Het
Ercc8	T	C	13: 108,295,318 (GRCm39)		probably benign	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fgd6	A	T	10: 93,963,297 (GRCm39)	I1132F	probably damaging	Het
Grin1	C	T	2: 25,188,514 (GRCm39)	V432I	possibly damaging	Het
Herc1	A	G	9: 66,358,265 (GRCm39)	S2449G	probably benign	Het
Herc2	T	A	7: 55,737,192 (GRCm39)		probably benign	Het
L1cam	A	G	X: 72,906,619 (GRCm39)	W275R	probably damaging	Het
Magi1	A	G	6: 93,722,579 (GRCm39)	V660A	probably damaging	Het
Mtcl1	T	C	17: 66,673,463 (GRCm39)	D633G	possibly damaging	Het
Nexmif	A	T	X: 103,131,497 (GRCm39)	M140K	probably damaging	Het
Or55b3	G	T	7: 102,126,679 (GRCm39)	H133N	probably benign	Het
Or7g33	A	T	9: 19,449,148 (GRCm39)	I26N	possibly damaging	Het
Or8d23	A	T	9: 38,841,979 (GRCm39)	T171S	probably benign	Het
R3hdm1	A	G	1: 128,096,775 (GRCm39)	T146A	possibly damaging	Het
Rnf123	A	T	9: 107,944,088 (GRCm39)	L508Q	probably damaging	Het
Scaf4	G	T	16: 90,039,808 (GRCm39)	P812T	unknown	Het
Slc45a2	A	G	15: 11,000,903 (GRCm39)	M1V	probably null	Het
Ttr	T	C	18: 20,799,580 (GRCm39)	V46A	probably benign	Het
Ubxn8	T	C	8: 34,113,206 (GRCm39)	K216R	possibly damaging	Het
Vmn2r109	T	C	17: 20,774,603 (GRCm39)	I251V	probably benign	Het
Xlr	A	T	X: 52,798,101 (GRCm39)		probably benign	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	probably damaging	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
IGL02185:Mctp2	APN	7	71,730,571 (GRCm39)	missense	probably benign	0.13
IGL02238:Mctp2	APN	7	71,739,953 (GRCm39)	nonsense	probably null
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