Mutagenetix > Incidental Mutation

Incidental Mutation 'R4023:Mctp2'

313349

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

040957-MU

Accession Numbers

Essential gene?

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

Stock #

R4023 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71739987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 801 (C801F)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079323
AA Change: C801F

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: C801F

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

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Acad8	T	C	9: 26,890,481 (GRCm39)	I276V	probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Akap9	C	T	5: 4,042,077 (GRCm39)	T1370I	possibly damaging	Het
Akna	C	G	4: 63,292,627 (GRCm39)	G1094A	probably benign	Het
Catsperb	C	A	12: 101,568,942 (GRCm39)	Y871*	probably null	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Depdc1a	G	A	3: 159,221,786 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Flnc	T	C	6: 29,451,634 (GRCm39)	I1591T	possibly damaging	Het
Kidins220	A	G	12: 25,107,143 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Or5t17	A	T	2: 86,833,266 (GRCm39)	K318*	probably null	Het
Or8c17	G	A	9: 38,180,757 (GRCm39)	C308Y	possibly damaging	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Rif1	T	A	2: 52,011,099 (GRCm39)	Y2389N	probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Siglecf	T	A	7: 43,004,995 (GRCm39)	S408R	possibly damaging	Het
Stat5a	T	A	11: 100,765,752 (GRCm39)	C279*	probably null	Het
Tas2r105	A	G	6: 131,663,789 (GRCm39)	V213A	probably benign	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tektl1	T	C	10: 78,588,727 (GRCm39)	T28A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp46	A	G	5: 74,193,136 (GRCm39)	Y47H	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Wdr20	A	G	12: 110,759,950 (GRCm39)	T279A	probably benign	Het
Zfyve1	A	G	12: 83,641,296 (GRCm39)	V120A	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
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
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'- TGGAAGTGTTCATTCCCCAAATG -3'
(R):5'- ACAGGGTCTTCTGATTGTCTCC -3'

Sequencing Primer
(F):5'- GAAGTGTTCATTCCCCAAATGTTTTC -3'
(R):5'- TCTCAAGTGACTTGTCAAATATGC -3'

Posted On

2015-04-30