Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01108:Mctp2'

51556

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 #

IGL01108

Quality Score

Status

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71835563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 545 (T545A)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079323
AA Change: T545A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: T545A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah2	A	G	19: 31,986,081 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,963,516 (GRCm39)	I856T	probably benign	Het
Cblb	T	A	16: 51,867,814 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,497,433 (GRCm39)	Q391R	probably benign	Het
Dnah9	T	A	11: 65,740,806 (GRCm39)	T4127S	possibly damaging	Het
Dync2h1	A	G	9: 7,176,771 (GRCm39)	S63P	possibly damaging	Het
Ercc3	T	C	18: 32,397,638 (GRCm39)	V623A	probably damaging	Het
Fbxw9	A	G	8: 85,792,606 (GRCm39)		probably benign	Het
Gorasp2	T	A	2: 70,508,922 (GRCm39)	S133R	probably damaging	Het
Gtf2h1	G	A	7: 46,461,922 (GRCm39)	A307T	probably damaging	Het
Hk1	T	C	10: 62,132,487 (GRCm39)	K186R	probably benign	Het
Itga11	A	G	9: 62,664,903 (GRCm39)	E596G	probably benign	Het
Kcnj13	T	C	1: 87,314,659 (GRCm39)	I188V	probably benign	Het
Klhl18	A	T	9: 110,257,754 (GRCm39)	M492K	probably damaging	Het
Mgrn1	G	T	16: 4,734,019 (GRCm39)		probably null	Het
Mideas	T	C	12: 84,220,465 (GRCm39)	E163G	probably damaging	Het
Olfm4	T	C	14: 80,259,339 (GRCm39)	V529A	probably benign	Het
Or13f5	C	T	4: 52,825,727 (GRCm39)	T110I	probably damaging	Het
Parp4	T	G	14: 56,844,897 (GRCm39)	I596S	probably benign	Het
Plppr3	T	A	10: 79,703,355 (GRCm39)	D43V	probably damaging	Het
Prss51	A	T	14: 64,333,433 (GRCm39)	K14I	probably damaging	Het
Prss58	A	G	6: 40,874,278 (GRCm39)	C133R	probably damaging	Het
Recql5	A	T	11: 115,788,007 (GRCm39)	N437K	probably benign	Het
Samd10	A	G	2: 181,239,007 (GRCm39)	Y135H	probably damaging	Het
Scnn1b	G	T	7: 121,513,555 (GRCm39)		probably null	Het
Serpina7	C	T	X: 137,983,886 (GRCm39)	V58I	probably benign	Het
Slf1	A	T	13: 77,273,594 (GRCm39)		probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Urb1	C	T	16: 90,589,702 (GRCm39)	A360T	probably damaging	Het
Ush2a	G	T	1: 188,595,022 (GRCm39)	R3818L	probably benign	Het
Vmn2r57	C	T	7: 41,077,008 (GRCm39)	R386K	probably benign	Het
Wnt3a	T	C	11: 59,147,135 (GRCm39)	N184D	probably benign	Het
Xpc	G	A	6: 91,469,987 (GRCm39)	R746W	probably damaging	Het

Other mutations in Mctp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21