Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Mctp2'

369718

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72077830-72306608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72259349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 72 (Q72P)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079323
AA Change: Q72P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: Q72P

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

noncoding transcript
Transcript: ENSMUST00000206755

Meta Mutation Damage Score

0.0652

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,349,955	N327K	probably damaging	Het
Ank2	T	C	3: 126,936,761	T675A	probably benign	Het
Arap3	T	C	18: 37,973,243	T1516A	probably benign	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
BC003331	A	G	1: 150,374,846	C294R	probably damaging	Het
C7	A	G	15: 5,059,405	V18A	probably benign	Het
Caap1	A	G	4: 94,501,260	V279A	probably benign	Het
Cacnb2	A	G	2: 14,874,780	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,795,221	S1166P	probably damaging	Het
Chgb	A	T	2: 132,793,299	H387L	probably benign	Het
Chp2	G	A	7: 122,220,900	R91Q	probably damaging	Het
Chuk	C	A	19: 44,077,247	G703*	probably null	Het
Clmn	T	C	12: 104,785,566	D210G	probably damaging	Het
Cyp4f18	A	G	8: 71,995,995	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,858,619		probably benign	Het
Diaph1	A	T	18: 37,895,203	V411D	unknown	Het
Dkk2	C	T	3: 132,173,785	A75V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnase2a	T	C	8: 84,909,877	V187A	probably benign	Het
Dusp19	A	G	2: 80,630,945	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Gm37596	C	T	3: 93,692,286	V259M	probably benign	Het
Golgb1	A	T	16: 36,913,115	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,226	M119V	possibly damaging	Het
Ice2	C	T	9: 69,407,118	R50C	probably damaging	Het
Ifi208	A	T	1: 173,682,837	E186V	probably damaging	Het
Ift122	A	G	6: 115,881,556	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,458,266	C209S	probably benign	Het
Kmt2a	G	A	9: 44,821,256		probably benign	Het
Lrriq1	T	A	10: 103,144,878	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592	T247N	probably damaging	Het
Miga1	T	C	3: 152,290,806	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,314,277	N19K	probably benign	Het
Mylk	G	A	16: 34,894,925	R541Q	probably damaging	Het
Nav3	T	C	10: 109,823,552	T735A	probably benign	Het
Nlgn1	T	A	3: 25,436,030	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,450,808	E613D	probably benign	Het
Nuf2	A	G	1: 169,510,468	S247P	probably damaging	Het
Ocstamp	A	G	2: 165,398,182	V28A	probably benign	Het
Odf2	A	C	2: 29,902,240	E155D	possibly damaging	Het
Olfr285	T	C	15: 98,312,680	N290S	probably damaging	Het
Olfr695	G	A	7: 106,874,237	P3S	probably benign	Het
Otud7a	T	C	7: 63,729,910		probably null	Het
Pacsin2	A	T	15: 83,385,059	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,695,194	V232I	probably damaging	Het
Plcb3	A	G	19: 6,962,984	I439T	possibly damaging	Het
Rag1	A	G	2: 101,643,516	V427A	probably damaging	Het
Ranbp10	A	T	8: 105,826,125	C128*	probably null	Het
Rbm8a2	A	G	1: 175,978,458	V151A	probably damaging	Het
S100pbp	A	G	4: 129,150,933		probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Sgo2b	T	C	8: 63,931,414	I183V	probably benign	Het
Slc25a25	A	T	2: 32,420,410	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,813,710	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,718,849	I183F	probably benign	Het
Srrm4	T	A	5: 116,475,190	K141N	unknown	Het
Tbc1d20	T	C	2: 152,311,989		probably benign	Het
Tep1	A	G	14: 50,841,302	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,632,120	M494T	probably benign	Het
Tox	A	G	4: 6,823,033	S95P	probably benign	Het
Tpr	G	A	1: 150,398,608	V163I	probably benign	Het
Trpm7	A	G	2: 126,858,492	S2P	probably damaging	Het
Ttn	A	G	2: 76,716,085	M32328T	probably damaging	Het
Vps39	A	T	2: 120,338,559	N289K	probably benign	Het
Xdh	C	T	17: 73,906,215	A847T	probably damaging	Het
Xndc1	G	A	7: 102,073,316	G63R	probably null	Het
Ythdc2	A	G	18: 44,885,240	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,793,663	K949N	probably damaging	Het
Zp3r	A	T	1: 130,598,912	Y185N	probably damaging	Het

Other mutations in Mctp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Mctp2	APN	7	72185815	missense	probably damaging	0.96
IGL01296:Mctp2	APN	7	72228526	missense	probably benign	0.03
IGL01509:Mctp2	APN	7	72259269	missense	probably benign	0.01
IGL02074:Mctp2	APN	7	72161258	missense	probably damaging	0.99
IGL02185:Mctp2	APN	7	72080823	missense	probably benign	0.13
IGL02238:Mctp2	APN	7	72090205	nonsense	probably null
IGL02707:Mctp2	APN	7	72259341	missense	possibly damaging	0.95
IGL02820:Mctp2	APN	7	72245542	missense	probably damaging	0.99
IGL02869:Mctp2	APN	7	72228471	critical splice donor site	probably null
IGL03354:Mctp2	APN	7	72161244	missense	probably benign	0.00
IGL03397:Mctp2	APN	7	72259277	missense	probably damaging	0.98
IGL03407:Mctp2	APN	7	72211652	missense	probably benign	0.05
trifecta	UTSW	7	72259331	missense	possibly damaging	0.63
triumvirate	UTSW	7	72211690	missense	probably damaging	1.00
troika	UTSW	7	72185820	missense	probably damaging	1.00
F5770:Mctp2	UTSW	7	72121751	splice site	probably benign
PIT4131001:Mctp2	UTSW	7	72090257	missense	probably damaging	1.00
R0013:Mctp2	UTSW	7	72229408	missense	probably benign	0.00
R0079:Mctp2	UTSW	7	72214116	splice site	probably benign
R0083:Mctp2	UTSW	7	72228516	missense	possibly damaging	0.94
R0173:Mctp2	UTSW	7	72247107	critical splice donor site	probably null
R0302:Mctp2	UTSW	7	72090264	missense	possibly damaging	0.94
R0533:Mctp2	UTSW	7	72080822	missense	probably benign	0.00
R0675:Mctp2	UTSW	7	72083170	missense	probably damaging	1.00
R1076:Mctp2	UTSW	7	72185867	critical splice acceptor site	probably null
R1222:Mctp2	UTSW	7	72259139	missense	probably benign
R1356:Mctp2	UTSW	7	72164723	unclassified	probably benign
R1628:Mctp2	UTSW	7	72211589	splice site	probably null
R1649:Mctp2	UTSW	7	72161258	missense	probably damaging	0.99
R1981:Mctp2	UTSW	7	72164698	missense	probably benign	0.01
R2256:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00
R2257:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00
R2327:Mctp2	UTSW	7	72211610	missense	probably damaging	0.99
R2407:Mctp2	UTSW	7	72200407	missense	probably benign	0.40
R2471:Mctp2	UTSW	7	72161161	nonsense	probably null
R3706:Mctp2	UTSW	7	72214111	splice site	probably benign
R4023:Mctp2	UTSW	7	72090239	missense	possibly damaging	0.88
R4025:Mctp2	UTSW	7	72090239	missense	possibly damaging	0.88
R4176:Mctp2	UTSW	7	72259337	missense	probably benign
R4272:Mctp2	UTSW	7	72259331	missense	possibly damaging	0.63
R4498:Mctp2	UTSW	7	72183851	missense	probably damaging	1.00
R4654:Mctp2	UTSW	7	72090194	missense	probably damaging	1.00
R4946:Mctp2	UTSW	7	72259269	missense	probably benign	0.00
R5389:Mctp2	UTSW	7	72214087	missense	possibly damaging	0.50
R5682:Mctp2	UTSW	7	72245459	critical splice donor site	probably null
R5878:Mctp2	UTSW	7	72214108	missense	probably benign	0.01
R5918:Mctp2	UTSW	7	72228540	missense	probably damaging	1.00
R5956:Mctp2	UTSW	7	72259175	missense	probably benign
R5964:Mctp2	UTSW	7	72103177	missense	probably damaging	0.97
R5978:Mctp2	UTSW	7	72090188	missense	probably damaging	1.00
R6054:Mctp2	UTSW	7	72259103	missense	probably benign
R6475:Mctp2	UTSW	7	72200344	critical splice donor site	probably null
R6849:Mctp2	UTSW	7	72211718	missense	probably damaging	1.00
R6963:Mctp2	UTSW	7	72228056	missense	probably damaging	1.00
R7366:Mctp2	UTSW	7	72259214	missense	probably benign	0.00
R7468:Mctp2	UTSW	7	72211690	missense	probably damaging	1.00
R7746:Mctp2	UTSW	7	72185796	missense	probably benign
R7765:Mctp2	UTSW	7	72090331	splice site	probably null
R7822:Mctp2	UTSW	7	72127187	missense	possibly damaging	0.90
R7984:Mctp2	UTSW	7	72103189	missense	possibly damaging	0.94
R8416:Mctp2	UTSW	7	72202462	missense	probably benign	0.12
R8678:Mctp2	UTSW	7	72103207	missense	probably damaging	1.00
R8819:Mctp2	UTSW	7	72229333	missense	probably benign	0.20
R8820:Mctp2	UTSW	7	72229333	missense	probably benign	0.20
R8835:Mctp2	UTSW	7	72202413	missense	probably benign	0.19
R8897:Mctp2	UTSW	7	72259563	start codon destroyed	probably benign	0.27
R8898:Mctp2	UTSW	7	72103156	missense	probably damaging	0.99
R9124:Mctp2	UTSW	7	72259430	missense	probably damaging	1.00
X0066:Mctp2	UTSW	7	72259280	nonsense	probably null
Z1191:Mctp2	UTSW	7	72185820	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAAGGGAAGGTTTGTGC -3'
(R):5'- GCGAACCAGACCTTTGTTAATC -3'

Sequencing Primer
(F):5'- TTTGTGCAGATCCAGGGCAC -3'
(R):5'- CAGACCTTTGTTAATCAACCTAAGC -3'

Posted On

2016-02-04