Mutagenetix > Incidental Mutation

Incidental Mutation 'R2471:Mctp2'

253088

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

040403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71727578-71956356 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 71810909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 52 (K52*)

Ref Sequence

ENSEMBL: ENSMUSP00000145571 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably benign
Transcript: ENSMUST00000079323
AA Change: L688F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: L688F

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 null
Transcript: ENSMUST00000205410
AA Change: K52*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206991

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,888,147 (GRCm39)	M390K	probably benign	Het
Bicra	A	G	7: 15,706,257 (GRCm39)	S1395P	probably benign	Het
Cacnb2	G	A	2: 14,989,125 (GRCm39)	D402N	probably damaging	Het
Csmd1	T	A	8: 16,261,776 (GRCm39)	D907V	probably damaging	Het
Cstl1	T	A	2: 148,593,041 (GRCm39)	Y65*	probably null	Het
Dnajc1	T	C	2: 18,224,627 (GRCm39)	I213V	possibly damaging	Het
Emcn	C	T	3: 137,109,772 (GRCm39)	T138M	probably damaging	Het
F3	G	T	3: 121,518,689 (GRCm39)	W51L	probably damaging	Het
Far2	A	G	6: 148,040,192 (GRCm39)	Y41C	probably damaging	Het
Flrt1	A	T	19: 7,073,856 (GRCm39)	D230E	probably damaging	Het
Gimap7	G	A	6: 48,700,986 (GRCm39)	V191M	probably damaging	Het
Gm19402	A	T	10: 77,526,354 (GRCm39)		probably benign	Het
Ipo5	A	C	14: 121,159,574 (GRCm39)	K134T	probably benign	Het
Kcnf1	T	C	12: 17,225,531 (GRCm39)	E230G	probably damaging	Het
Mad1l1	T	C	5: 140,247,307 (GRCm39)	E340G	probably benign	Het
Map4k5	T	C	12: 69,903,620 (GRCm39)	I62V	probably benign	Het
Marchf7	A	G	2: 60,067,244 (GRCm39)	K588R	possibly damaging	Het
Nr1h4	A	T	10: 89,309,756 (GRCm39)	F310L	probably damaging	Het
Ofcc1	G	A	13: 40,250,501 (GRCm39)	S605F	probably damaging	Het
Or2w1b	A	T	13: 21,300,599 (GRCm39)	T246S	probably damaging	Het
Or5ac25	A	T	16: 59,181,944 (GRCm39)	S212R	possibly damaging	Het
Or5b97	G	A	19: 12,878,679 (GRCm39)	T155I	probably benign	Het
Pcdh20	T	G	14: 88,704,672 (GRCm39)	E876A	probably benign	Het
Plce1	C	T	19: 38,768,370 (GRCm39)	A2215V	probably damaging	Het
Ptprg	T	C	14: 12,210,327 (GRCm38)	Y128H	probably damaging	Het
Sigirr	A	G	7: 140,672,510 (GRCm39)	L204S	probably damaging	Het
Slc2a12	A	T	10: 22,540,706 (GRCm39)	Y187F	probably damaging	Het
Slc31a2	A	T	4: 62,214,312 (GRCm39)	R86W	probably null	Het
Smc1b	T	C	15: 84,976,218 (GRCm39)	K830E	probably damaging	Het
Ssrp1	A	G	2: 84,872,642 (GRCm39)	N427D	possibly damaging	Het
Taar9	A	T	10: 23,985,289 (GRCm39)	F48L	probably benign	Het
Taok2	T	C	7: 126,474,272 (GRCm39)	E319G	probably damaging	Het
Try10	T	C	6: 41,333,680 (GRCm39)	S142P	probably damaging	Het
Tsc22d1	A	G	14: 76,655,644 (GRCm39)	T626A	probably benign	Het
Zfp101	T	C	17: 33,599,950 (GRCm39)	E602G	possibly 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
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
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'- CACAGAAACATATAGAGACTGGCTC -3'
(R):5'- CTACAGCAGCTGATCTTAGGG -3'

Sequencing Primer
(F):5'- GAGACTGGCTCTTTTAAGCTCAGC -3'
(R):5'- CAGCAGCTGATCTTAGGGAATATCC -3'

Posted On

2014-12-04