Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Mctp2'

166161

Institutional Source

Beutler Lab

Gene Symbol

Mctp2

Ensembl Gene

ENSMUSG00000032776

Gene Name

multiple C2 domains, transmembrane 2

Synonyms

LOC244049

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0013 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72077830-72306608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72229408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 234 (I234V)

Ref Sequence

ENSEMBL: ENSMUSP00000078302 (fasta)

Gene Model

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

AlphaFold

Q5RJH2

Predicted Effect

probably benign
Transcript: ENSMUST00000079323
AA Change: I234V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: I234V

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: ENSMUST00000206976

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly 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
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
R4815:Mctp2	UTSW	7	72259349	missense	possibly damaging	0.89
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'- CCAGCCTCAGAGCATAATGGAAGG -3'
(R):5'- AGGTTCCCCATTCCTGCACAAAG -3'

Sequencing Primer
(F):5'- AGGAATAATTGAGGCAAGTTCAC -3'
(R):5'- CAAAGAGACACTGATCTCCTTGTG -3'

Posted On

2014-04-10