Mutagenetix > Incidental Mutation

Incidental Mutation 'R1356:Mctp2'

156324

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

039421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R1356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 71814471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145571 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably benign
Transcript: ENSMUST00000079323

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,112 (GRCm39)		probably benign	Het
Adam18	A	G	8: 25,158,611 (GRCm39)		probably benign	Het
Cd274	C	A	19: 29,350,970 (GRCm39)	T22K	possibly damaging	Het
Cfap45	G	A	1: 172,355,430 (GRCm39)	R26Q	possibly damaging	Het
Dvl3	AGCGGCGGCGGCGG	AGCGGCGGCGG	16: 20,343,055 (GRCm39)		probably benign	Het
E2f8	A	G	7: 48,530,018 (GRCm39)		probably benign	Het
Ercc4	A	G	16: 12,943,146 (GRCm39)	H255R	probably damaging	Het
Fam227b	C	T	2: 125,960,928 (GRCm39)	D234N	probably damaging	Het
Foxp1	A	T	6: 98,993,637 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,089 (GRCm39)	V5274D	probably benign	Het
Gm21718	A	G	14: 51,554,104 (GRCm39)		noncoding transcript	Het
Gpr85	G	A	6: 13,836,146 (GRCm39)	P253S	probably benign	Het
Grm7	A	T	6: 111,335,985 (GRCm39)	I799F	probably damaging	Het
Inpp1	A	G	1: 52,836,215 (GRCm39)	F84L	possibly damaging	Het
Kprp	T	A	3: 92,732,909 (GRCm39)	E47V	probably damaging	Het
Krt9	CTGC	CTGCNNNNNNNNNNNNNNNNNNNNNTGC	11: 100,079,640 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,633,634 (GRCm39)		probably benign	Het
Lurap1l	C	G	4: 80,829,767 (GRCm39)	A59G	probably benign	Het
Macc1	A	T	12: 119,410,290 (GRCm39)	T353S	probably benign	Het
Mdn1	T	C	4: 32,700,334 (GRCm39)		probably benign	Het
Mpeg1	T	A	19: 12,438,689 (GRCm39)	V49D	probably damaging	Het
Nos2	C	T	11: 78,843,629 (GRCm39)	P859S	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Parn	A	T	16: 13,468,538 (GRCm39)	Y214*	probably null	Het
Pibf1	A	G	14: 99,374,632 (GRCm39)	E357G	possibly damaging	Het
Prex2	C	T	1: 11,150,316 (GRCm39)	Q163*	probably null	Het
Prune2	T	A	19: 17,189,681 (GRCm39)	S294T	probably benign	Het
Slc46a1	A	G	11: 78,361,550 (GRCm39)	N399D	probably benign	Het
Sstr2	T	C	11: 113,515,720 (GRCm39)	F213S	probably damaging	Het
Tnxb	A	G	17: 34,914,446 (GRCm39)	E1967G	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,218 (GRCm39)	*866Q	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACTGAGAAGCTGGGAGGCACACC -3'
(R):5'- TTGGTCACCAGAATGGGGAGGGGTC -3'

Sequencing Primer
(F):5'- ACCGGGAGGGCACTTAC -3'
(R):5'- AATCCATTTTTGCAGAGGCAA -3'

Posted On

2014-02-11