Mutagenetix > Incidental Mutation

Incidental Mutation 'R2127:Mctp1'

227660

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

040130-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76972941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 648 (D648G)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209]

AlphaFold

E9PV86

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: D391G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: D391G

Domain	Start	End	E-Value	Type
C2	3	100	1.15e-15	SMART
C2	166	263	1.35e-21	SMART
C2	322	418	4.76e-22	SMART
transmembrane domain	513	535	N/A	INTRINSIC
Pfam:PRT_C	542	672	3.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122843

Predicted Effect

probably damaging
Transcript: ENSMUST00000125209
AA Change: D648G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: D648G

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
low complexity region	49	63	N/A	INTRINSIC
low complexity region	134	174	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC
C2	260	357	1.15e-15	SMART
C2	423	520	1.35e-21	SMART
C2	579	675	4.76e-22	SMART
transmembrane domain	770	792	N/A	INTRINSIC
Pfam:PRT_C	800	929	2.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155275

Meta Mutation Damage Score

0.9555

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,752 (GRCm39)	S300T	possibly damaging	Het
A2ml1	A	C	6: 128,535,400 (GRCm39)	V770G	probably damaging	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Abhd17c	C	A	7: 83,759,870 (GRCm39)	G295W	probably damaging	Het
Actn3	G	A	19: 4,921,703 (GRCm39)	A159V	probably damaging	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Agbl1	G	T	7: 76,069,628 (GRCm39)	V373F	possibly damaging	Het
Aldh1a1	A	T	19: 20,620,279 (GRCm39)	E485D	probably benign	Het
Amdhd2	A	G	17: 24,377,282 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,206,622 (GRCm39)	D15G	probably damaging	Het
Atp2b2	A	G	6: 113,737,611 (GRCm39)	L921P	probably damaging	Het
Btbd16	A	G	7: 130,386,038 (GRCm39)	N88S	probably benign	Het
Capn10	T	A	1: 92,865,756 (GRCm39)	C77*	probably null	Het
Caskin1	T	C	17: 24,715,970 (GRCm39)		probably null	Het
Catsper4	T	C	4: 133,941,117 (GRCm39)	D254G	probably benign	Het
Catsperg1	T	C	7: 28,884,465 (GRCm39)	D958G	probably damaging	Het
Ccar2	T	G	14: 70,377,100 (GRCm39)	K787Q	probably benign	Het
Ccdc191	C	T	16: 43,728,998 (GRCm39)	T244I	probably benign	Het
Cd33	A	T	7: 43,179,699 (GRCm39)	L243Q	possibly damaging	Het
Cdc37	T	C	9: 21,061,143 (GRCm39)	Y4C	probably damaging	Het
Cenpe	T	G	3: 134,945,541 (GRCm39)	N1018K	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Csmd1	T	C	8: 15,967,392 (GRCm39)	D3157G	probably damaging	Het
Dhx57	C	T	17: 80,580,477 (GRCm39)	V492M	probably damaging	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnhd1	C	T	7: 105,342,928 (GRCm39)	T1424I	possibly damaging	Het
Dsc3	C	T	18: 20,101,411 (GRCm39)	A661T	probably benign	Het
F930015N05Rik	A	G	11: 64,326,229 (GRCm39)		probably benign	Het
Fbxo34	C	A	14: 47,767,563 (GRCm39)	R308S	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm11595	A	T	11: 99,663,327 (GRCm39)	C118S	unknown	Het
Gm9742	A	T	13: 8,085,011 (GRCm39)		noncoding transcript	Het
Gmeb2	G	A	2: 180,900,842 (GRCm39)	A185V	probably benign	Het
Gpr15	A	G	16: 58,538,618 (GRCm39)	V157A	possibly damaging	Het
Gpr3	C	T	4: 132,937,932 (GRCm39)	A247T	probably damaging	Het
Grin2b	A	C	6: 135,755,698 (GRCm39)	S539A	probably benign	Het
Hmbs	T	C	9: 44,252,004 (GRCm39)	T92A	probably benign	Het
Inpp4a	A	G	1: 37,406,000 (GRCm39)	M173V	probably benign	Het
Irx4	T	A	13: 73,413,595 (GRCm39)	S22T	probably benign	Het
Jph3	C	T	8: 122,511,881 (GRCm39)	A623V	probably benign	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Ksr1	G	A	11: 78,924,139 (GRCm39)	S361L	probably damaging	Het
Lyst	T	G	13: 13,809,847 (GRCm39)	Y506D	probably damaging	Het
Megf8	T	C	7: 25,064,007 (GRCm39)	S2788P	possibly damaging	Het
Mfsd2b	T	A	12: 4,917,659 (GRCm39)	Y129F	probably benign	Het
Mindy4	T	C	6: 55,195,250 (GRCm39)	S155P	probably benign	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Nckipsd	A	G	9: 108,688,932 (GRCm39)	T156A	probably benign	Het
Ndst1	G	A	18: 60,824,280 (GRCm39)	T799I	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Nphp3	G	A	9: 103,885,442 (GRCm39)	V167M	probably damaging	Het
Nup107	C	A	10: 117,610,380 (GRCm39)	R354L	possibly damaging	Het
Olfml2a	T	C	2: 38,831,699 (GRCm39)	C93R	probably damaging	Het
Or12e10	A	G	2: 87,640,685 (GRCm39)	I174V	probably benign	Het
Or1e25	C	G	11: 73,493,631 (GRCm39)	S75C	possibly damaging	Het
Or5l14	A	T	2: 87,793,176 (GRCm39)	V20D	probably benign	Het
Pappa	T	A	4: 65,215,494 (GRCm39)	L1134M	probably damaging	Het
Plscr4	T	G	9: 92,370,683 (GRCm39)	F217V	possibly damaging	Het
Pnpla8	T	A	12: 44,354,840 (GRCm39)	Y667N	probably benign	Het
Polg	A	G	7: 79,114,676 (GRCm39)	L95P	probably damaging	Het
Psg20	T	G	7: 18,416,643 (GRCm39)	I158L	probably damaging	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rdx	A	G	9: 51,981,032 (GRCm39)	M305V	possibly damaging	Het
Rinl	A	G	7: 28,496,168 (GRCm39)	E383G	probably damaging	Het
Ror1	A	G	4: 100,299,290 (GRCm39)	M888V	probably benign	Het
Rps12	A	T	10: 23,662,776 (GRCm39)	I22K	possibly damaging	Het
Rtca	C	A	3: 116,291,323 (GRCm39)	R219L	possibly damaging	Het
Ryr2	G	A	13: 11,727,081 (GRCm39)	P2427S	probably damaging	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc39a11	A	G	11: 113,260,629 (GRCm39)	S176P	probably benign	Het
Slfn10-ps	A	G	11: 82,921,168 (GRCm39)		noncoding transcript	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Sult2a4	G	T	7: 13,649,185 (GRCm39)	P207Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tcstv1a	T	C	13: 120,355,282 (GRCm39)	T117A	probably damaging	Het
Tha1	A	G	11: 117,760,600 (GRCm39)	V208A	probably damaging	Het
Tmbim4	T	A	10: 120,060,658 (GRCm39)	I215N	probably damaging	Het
Tmem202	T	A	9: 59,427,483 (GRCm39)	I122F	probably benign	Het
Tomm70a	T	C	16: 56,942,234 (GRCm39)	S4P	unknown	Het
Tpcn2	A	G	7: 144,827,712 (GRCm39)		probably benign	Het
Trim36	A	T	18: 46,345,404 (GRCm39)	F10I	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Usp8	T	G	2: 126,579,495 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,533 (GRCm39)	Y81F	probably benign	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,236,565 (GRCm39)		noncoding transcript	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zfp319	A	T	8: 96,050,391 (GRCm39)		probably benign	Het
Zfp408	T	C	2: 91,475,519 (GRCm39)	E545G	probably damaging	Het
Zfp799	C	T	17: 33,038,472 (GRCm39)	R598Q	possibly damaging	Het
Zfp831	T	C	2: 174,489,917 (GRCm39)	V1228A	probably benign	Het
Zfp938	T	C	10: 82,061,876 (GRCm39)	D248G	probably benign	Het

Other mutations in Mctp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mctp1	APN	13	77,168,917 (GRCm39)	missense	probably damaging	0.98
IGL01355:Mctp1	APN	13	76,533,074 (GRCm39)	missense	probably benign
IGL02192:Mctp1	APN	13	76,879,887 (GRCm39)	intron	probably benign
IGL02342:Mctp1	APN	13	77,172,976 (GRCm39)	missense	probably damaging	1.00
IGL02706:Mctp1	APN	13	76,971,188 (GRCm39)	missense	probably damaging	1.00
IGL02950:Mctp1	APN	13	77,172,929 (GRCm39)	missense	probably damaging	1.00
IGL03064:Mctp1	APN	13	76,949,632 (GRCm39)	nonsense	probably null
IGL03230:Mctp1	APN	13	76,972,976 (GRCm39)	missense	possibly damaging	0.49
R0138:Mctp1	UTSW	13	76,975,831 (GRCm39)	missense	probably damaging	1.00
R0355:Mctp1	UTSW	13	76,972,982 (GRCm39)	missense	probably damaging	1.00
R0383:Mctp1	UTSW	13	76,949,663 (GRCm39)	missense	probably damaging	1.00
R0426:Mctp1	UTSW	13	77,168,940 (GRCm39)	missense	probably benign	0.01
R0462:Mctp1	UTSW	13	76,949,520 (GRCm39)	missense	probably damaging	1.00
R0483:Mctp1	UTSW	13	76,975,846 (GRCm39)	missense	probably damaging	1.00
R0685:Mctp1	UTSW	13	76,973,918 (GRCm39)	critical splice donor site	probably null
R1468:Mctp1	UTSW	13	76,973,392 (GRCm39)	missense	probably benign	0.25
R1468:Mctp1	UTSW	13	76,973,392 (GRCm39)	missense	probably benign	0.25
R1854:Mctp1	UTSW	13	76,973,860 (GRCm39)	missense	probably damaging	0.96
R1864:Mctp1	UTSW	13	76,533,267 (GRCm39)	missense	possibly damaging	0.63
R1865:Mctp1	UTSW	13	76,533,267 (GRCm39)	missense	possibly damaging	0.63
R1920:Mctp1	UTSW	13	76,532,729 (GRCm39)	missense	possibly damaging	0.67
R2071:Mctp1	UTSW	13	76,907,843 (GRCm39)	missense	probably damaging	1.00
R2128:Mctp1	UTSW	13	76,972,941 (GRCm39)	missense	probably damaging	1.00
R2129:Mctp1	UTSW	13	76,972,941 (GRCm39)	missense	probably damaging	1.00
R3709:Mctp1	UTSW	13	76,972,999 (GRCm39)	splice site	probably null
R4463:Mctp1	UTSW	13	76,860,206 (GRCm39)	missense	probably damaging	1.00
R4510:Mctp1	UTSW	13	76,973,391 (GRCm39)	missense	probably benign	0.20
R4511:Mctp1	UTSW	13	76,973,391 (GRCm39)	missense	probably benign	0.20
R4951:Mctp1	UTSW	13	76,975,894 (GRCm39)	missense	probably damaging	0.96
R5004:Mctp1	UTSW	13	76,789,923 (GRCm39)	missense	possibly damaging	0.79
R5307:Mctp1	UTSW	13	76,860,198 (GRCm39)	critical splice acceptor site	probably null
R5339:Mctp1	UTSW	13	76,973,825 (GRCm39)	intron	probably benign
R5639:Mctp1	UTSW	13	77,172,902 (GRCm39)	splice site	silent
R5769:Mctp1	UTSW	13	76,907,927 (GRCm39)	missense	probably damaging	1.00
R5800:Mctp1	UTSW	13	76,836,678 (GRCm39)	missense	probably damaging	1.00
R5913:Mctp1	UTSW	13	76,907,944 (GRCm39)	splice site	probably null
R5981:Mctp1	UTSW	13	76,905,229 (GRCm39)	missense	probably damaging	1.00
R6024:Mctp1	UTSW	13	76,533,280 (GRCm39)	missense	probably damaging	0.98
R6192:Mctp1	UTSW	13	76,971,082 (GRCm39)	splice site	probably null
R6331:Mctp1	UTSW	13	77,168,982 (GRCm39)	critical splice donor site	probably null
R6468:Mctp1	UTSW	13	76,879,930 (GRCm39)	critical splice donor site	probably null
R6484:Mctp1	UTSW	13	76,836,744 (GRCm39)	missense	probably benign	0.02
R6656:Mctp1	UTSW	13	77,178,055 (GRCm39)	missense	probably damaging	0.99
R7026:Mctp1	UTSW	13	76,954,378 (GRCm39)	missense	probably benign	0.35
R7482:Mctp1	UTSW	13	76,889,579 (GRCm39)	splice site	probably null
R7890:Mctp1	UTSW	13	76,975,876 (GRCm39)	missense	probably damaging	1.00
R7942:Mctp1	UTSW	13	76,789,829 (GRCm39)	critical splice acceptor site	probably null
R8029:Mctp1	UTSW	13	77,178,005 (GRCm39)	missense	probably damaging	1.00
R8034:Mctp1	UTSW	13	77,039,670 (GRCm39)	missense	probably damaging	0.99
R8085:Mctp1	UTSW	13	76,972,972 (GRCm39)	missense	probably benign	0.00
R8258:Mctp1	UTSW	13	76,949,666 (GRCm39)	critical splice donor site	probably null
R8259:Mctp1	UTSW	13	76,949,666 (GRCm39)	critical splice donor site	probably null
R8286:Mctp1	UTSW	13	76,905,174 (GRCm39)	missense	probably benign	0.22
R8713:Mctp1	UTSW	13	76,789,922 (GRCm39)	missense	probably benign
R9029:Mctp1	UTSW	13	76,836,741 (GRCm39)	missense	probably benign	0.36
R9218:Mctp1	UTSW	13	76,871,816 (GRCm39)	missense	possibly damaging	0.94
R9447:Mctp1	UTSW	13	76,727,904 (GRCm39)	missense	probably benign	0.00
R9457:Mctp1	UTSW	13	76,532,793 (GRCm39)	missense	probably benign
R9670:Mctp1	UTSW	13	76,532,840 (GRCm39)	missense	probably benign	0.01
Z1189:Mctp1	UTSW	13	76,971,161 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTCGCCTGGGACATATCTG -3'
(R):5'- ACATGGCCGTGCATTGAGTATG -3'

Sequencing Primer
(F):5'- CCTGGGACATATCTGTTTGTATGC -3'
(R):5'- CAGACATAGAGCTGAGGT -3'

Posted On

2014-09-17