Mutagenetix > Incidental Mutation

Incidental Mutation 'R1076:Mctp2'

85651

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

039162-MU

Accession Numbers

Essential gene?

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

Stock #

R1076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 71835615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 52,001,759 (GRCm39)	K63R	probably damaging	Het
Ankrd50	T	C	3: 38,509,071 (GRCm39)	N176D	probably damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Cldn4	A	G	5: 134,975,191 (GRCm39)	S137P	probably damaging	Het
Cnn1	A	T	9: 22,019,165 (GRCm39)	Q157L	probably damaging	Het
Csn1s1	A	T	5: 87,824,242 (GRCm39)		probably null	Het
Dennd3	C	T	15: 73,412,582 (GRCm39)	H415Y	probably damaging	Het
Dnpep	A	G	1: 75,292,582 (GRCm39)		probably benign	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Elovl2	A	G	13: 41,343,583 (GRCm39)	V115A	possibly damaging	Het
Fryl	C	T	5: 73,282,016 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,492,692 (GRCm39)	T707A	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ktn1	T	A	14: 47,932,095 (GRCm39)	M674K	probably damaging	Het
Larp4	A	G	15: 99,895,311 (GRCm39)	T295A	probably benign	Het
Lrp1	T	C	10: 127,399,666 (GRCm39)		probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Neb	A	G	2: 52,094,904 (GRCm39)	Y4883H	probably damaging	Het
Nsun6	A	T	2: 15,014,283 (GRCm39)	C286S	probably benign	Het
Pabpc4	T	A	4: 123,186,701 (GRCm39)	D307E	possibly damaging	Het
Pik3cg	G	A	12: 32,245,713 (GRCm39)		probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Serpina3k	A	G	12: 104,307,253 (GRCm39)	T162A	probably benign	Het
Sis	T	C	3: 72,841,431 (GRCm39)	T795A	probably damaging	Het
Skint8	T	A	4: 111,784,416 (GRCm39)	V14E	probably damaging	Het
Slc2a1	T	G	4: 118,991,645 (GRCm39)	M351R	probably damaging	Het
Slc41a3	G	A	6: 90,621,142 (GRCm39)	C394Y	probably benign	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Ulk2	G	A	11: 61,710,135 (GRCm39)	H358Y	probably damaging	Het
Utp20	A	T	10: 88,608,405 (GRCm39)	I1544N	possibly damaging	Het
Utp20	A	G	10: 88,608,321 (GRCm39)	M1572T	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTCTCTAAGTTAAAGCTGCTCCG -3'
(R):5'- TTCTACAGGAAAACCTGGTGCCCC -3'

Sequencing Primer
(F):5'- TGTTCCACTCAGGATTGAGG -3'
(R):5'- GATCATTGGTCTTCAGAGCAAC -3'

Posted On

2013-11-18