Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:C2cd2l'

507164

Institutional Source

Beutler Lab

Gene Symbol

C2cd2l

Ensembl Gene

ENSMUSG00000032120

Gene Name

C2 calcium-dependent domain containing 2-like

Synonyms

Tmem24, 1300006O23Rik

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44220534-44231579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44228963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 123 (I123V)

Ref Sequence

ENSEMBL: ENSMUSP00000065233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065080] [ENSMUST00000213160] [ENSMUST00000214602] [ENSMUST00000216222]

AlphaFold

Q80X80

Predicted Effect

probably damaging
Transcript: ENSMUST00000065080
AA Change: I123V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: I123V

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	67	79	N/A	INTRINSIC
SCOP:d1qasa2	284	408	4e-3	SMART
Blast:C2	287	395	9e-62	BLAST
low complexity region	417	430	N/A	INTRINSIC
low complexity region	444	452	N/A	INTRINSIC
low complexity region	483	503	N/A	INTRINSIC
low complexity region	566	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213818

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214602
AA Change: I123V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214915

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216222
AA Change: I1V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216855

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly damaging	Het

Other mutations in C2cd2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:C2cd2l	APN	9	44,228,400 (GRCm39)	missense	probably damaging	1.00
IGL01304:C2cd2l	APN	9	44,230,884 (GRCm39)	missense	probably damaging	0.96
IGL02402:C2cd2l	APN	9	44,227,878 (GRCm39)	missense	probably benign	0.31
R0701:C2cd2l	UTSW	9	44,227,499 (GRCm39)	missense	probably damaging	1.00
R0883:C2cd2l	UTSW	9	44,227,499 (GRCm39)	missense	probably damaging	1.00
R1321:C2cd2l	UTSW	9	44,228,878 (GRCm39)	critical splice donor site	probably null
R1594:C2cd2l	UTSW	9	44,228,070 (GRCm39)	missense	probably damaging	1.00
R1665:C2cd2l	UTSW	9	44,228,072 (GRCm39)	missense	probably benign	0.07
R1700:C2cd2l	UTSW	9	44,227,909 (GRCm39)	missense	probably benign	0.00
R1739:C2cd2l	UTSW	9	44,231,040 (GRCm39)	missense	probably benign	0.26
R1770:C2cd2l	UTSW	9	44,228,108 (GRCm39)	missense	probably benign	0.02
R2065:C2cd2l	UTSW	9	44,227,632 (GRCm39)	missense	probably benign	0.19
R4669:C2cd2l	UTSW	9	44,226,322 (GRCm39)	missense	possibly damaging	0.92
R4835:C2cd2l	UTSW	9	44,226,442 (GRCm39)	critical splice donor site	probably null
R4890:C2cd2l	UTSW	9	44,222,430 (GRCm39)	missense	probably damaging	1.00
R4916:C2cd2l	UTSW	9	44,227,857 (GRCm39)	missense	probably damaging	0.97
R5664:C2cd2l	UTSW	9	44,225,069 (GRCm39)	missense	probably damaging	1.00
R6339:C2cd2l	UTSW	9	44,224,788 (GRCm39)	splice site	probably benign
R7043:C2cd2l	UTSW	9	44,227,848 (GRCm39)	missense	probably damaging	1.00
R7236:C2cd2l	UTSW	9	44,228,960 (GRCm39)	missense	possibly damaging	0.71
R7532:C2cd2l	UTSW	9	44,226,681 (GRCm39)	missense	probably benign	0.41
R8239:C2cd2l	UTSW	9	44,227,502 (GRCm39)	missense	possibly damaging	0.75
R9482:C2cd2l	UTSW	9	44,227,914 (GRCm39)	missense	probably damaging	1.00
R9557:C2cd2l	UTSW	9	44,231,127 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCCTGAAACAAATCCTTAGGTCC -3'
(R):5'- AAGGTAGCCTCTGGAAGCTG -3'

Sequencing Primer
(F):5'- GAAACAAATCCTTAGGTCCTTAAGAC -3'
(R):5'- TAGCCTCTGGAAGCTGCAGATC -3'

Posted On

2018-03-15