Mutagenetix > Incidental Mutation

Incidental Mutation 'R5787:Ceacam3'

448081

Institutional Source

Beutler Lab

Gene Symbol

Ceacam3

Ensembl Gene

ENSMUSG00000053228

Gene Name

CEA cell adhesion molecule 3

Synonyms

EG384557, cea12, Psg24

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16884207-16898178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16888971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 247 (E247K)

Ref Sequence

ENSEMBL: ENSMUSP00000104131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108491]

AlphaFold

E9Q6J4

Predicted Effect

probably benign
Transcript: ENSMUST00000065540
AA Change: E247K

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: E247K

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
IG	35	136	2.83e-3	SMART
IG	155	256	6.31e-1	SMART
IG	275	376	1.42e-3	SMART
IG	395	494	2.08e-1	SMART
IG	511	610	1.26e0	SMART
IGc2	628	692	7.64e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108491
AA Change: E247K

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: E247K

Domain	Start	End	E-Value	Type
IG	40	141	2.83e-3	SMART
IG	160	261	6.31e-1	SMART
IG	280	379	8.01e-3	SMART
IG	398	497	2.08e-1	SMART
IG	514	613	1.26e0	SMART
IGc2	631	695	7.64e-9	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adam24	A	G	8: 41,133,941 (GRCm39)	N470D	possibly damaging	Het
Adcy8	T	C	15: 64,576,067 (GRCm39)	D1027G	probably damaging	Het
Amph	A	T	13: 19,132,624 (GRCm39)	I8F	possibly damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp6v0a1	A	G	11: 100,909,400 (GRCm39)	D43G	probably benign	Het
Bltp1	T	C	3: 37,046,882 (GRCm39)		probably null	Het
Btnl10	T	A	11: 58,811,169 (GRCm39)	I164N	probably damaging	Het
Ccdc174	C	T	6: 91,858,291 (GRCm39)	Q71*	probably null	Het
Chrna2	A	G	14: 66,386,457 (GRCm39)	D201G	probably benign	Het
Clasp2	G	A	9: 113,691,310 (GRCm39)	D448N	probably damaging	Het
Clcn2	C	A	16: 20,522,183 (GRCm39)	R829L	probably damaging	Het
Clock	A	G	5: 76,384,898 (GRCm39)	S440P	probably damaging	Het
Cntn2	T	C	1: 132,450,797 (GRCm39)	D29G	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cul3	T	C	1: 80,260,438 (GRCm39)	I304V	probably benign	Het
Cyp11a1	C	A	9: 57,922,550 (GRCm39)	Q77K	probably benign	Het
Cyp3a25	A	G	5: 145,935,313 (GRCm39)	V101A	probably benign	Het
Cyp4f15	T	C	17: 32,921,782 (GRCm39)	F485L	probably damaging	Het
Des	T	A	1: 75,340,290 (GRCm39)	V399E	probably damaging	Het
Dhx58	T	C	11: 100,592,145 (GRCm39)	D301G	possibly damaging	Het
Ear6	A	G	14: 52,091,855 (GRCm39)	E134G	probably benign	Het
Eif2b3	A	G	4: 116,901,637 (GRCm39)	D100G	probably damaging	Het
Erich1	T	C	8: 14,083,776 (GRCm39)		probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Htr4	T	C	18: 62,546,693 (GRCm39)	V82A	probably damaging	Het
Hydin	A	G	8: 111,052,985 (GRCm39)	D219G	probably damaging	Het
Ifit1	T	A	19: 34,624,975 (GRCm39)	V37E	probably benign	Het
Isg20	T	A	7: 78,569,558 (GRCm39)	D176E	probably benign	Het
Islr2	A	G	9: 58,105,637 (GRCm39)	V585A	probably damaging	Het
Kat6a	A	G	8: 23,422,663 (GRCm39)	E991G	probably damaging	Het
Kcnv1	T	C	15: 44,977,726 (GRCm39)	Y104C	probably damaging	Het
Lrtm1	G	C	14: 28,743,947 (GRCm39)	E138D	possibly damaging	Het
Mllt3	A	T	4: 87,759,057 (GRCm39)	D330E	probably damaging	Het
Mpp7	T	C	18: 7,461,682 (GRCm39)	N64D	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Nop9	T	G	14: 55,983,791 (GRCm39)	C141G	possibly damaging	Het
Nos1ap	T	C	1: 170,146,141 (GRCm39)	E471G	probably benign	Het
Npr2	A	G	4: 43,633,593 (GRCm39)	T246A	possibly damaging	Het
Or2t1	A	C	14: 14,328,725 (GRCm38)	M205L	probably damaging	Het
Or4a76	T	A	2: 89,461,018 (GRCm39)	I75F	probably benign	Het
Or6z1	A	T	7: 6,504,989 (GRCm39)	S79T	probably damaging	Het
Pdlim4	T	A	11: 53,946,042 (GRCm39)	D271V	probably damaging	Het
Pik3r6	T	C	11: 68,430,753 (GRCm39)	V518A	possibly damaging	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rbsn	C	T	6: 92,176,797 (GRCm39)	V239I	possibly damaging	Het
Rsph14	T	A	10: 74,793,460 (GRCm39)	I314F	possibly damaging	Het
S1pr2	A	T	9: 20,879,232 (GRCm39)	S199T	probably benign	Het
Scrib	A	G	15: 75,931,151 (GRCm39)	L902P	probably damaging	Het
Slc25a23	T	C	17: 57,360,825 (GRCm39)	T200A	probably damaging	Het
Slc8a1	A	T	17: 81,696,166 (GRCm39)	I956N	probably damaging	Het
Spef2	A	G	15: 9,748,812 (GRCm39)	V15A	possibly damaging	Het
Stim1	T	A	7: 102,084,647 (GRCm39)	V533E	possibly damaging	Het
Tbck	A	T	3: 132,443,329 (GRCm39)	D585V	probably damaging	Het
Tpr	T	A	1: 150,271,037 (GRCm39)	L80Q	probably benign	Het
Trim67	C	T	8: 125,521,051 (GRCm39)	R138*	probably null	Het
Ttn	T	C	2: 76,580,627 (GRCm39)	N23422S	probably damaging	Het
Uba6	A	G	5: 86,260,511 (GRCm39)	*1023Q	probably null	Het
Vmn1r208	T	C	13: 22,956,841 (GRCm39)	N219D	possibly damaging	Het
Vmn1r8	T	A	6: 57,013,244 (GRCm39)	S98R	probably damaging	Het

Other mutations in Ceacam3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ceacam3	APN	7	16,885,782 (GRCm39)	missense	probably benign	0.03
IGL01510:Ceacam3	APN	7	16,893,767 (GRCm39)	missense	probably benign	0.00
IGL01830:Ceacam3	APN	7	16,888,925 (GRCm39)	missense	possibly damaging	0.79
IGL02155:Ceacam3	APN	7	16,896,906 (GRCm39)	missense	possibly damaging	0.58
IGL02281:Ceacam3	APN	7	16,895,656 (GRCm39)	missense	probably benign	0.43
IGL02301:Ceacam3	APN	7	16,897,026 (GRCm39)	missense	probably damaging	1.00
IGL02320:Ceacam3	APN	7	16,895,865 (GRCm39)	missense	probably benign	0.43
IGL02514:Ceacam3	APN	7	16,896,906 (GRCm39)	missense	possibly damaging	0.58
IGL02929:Ceacam3	APN	7	16,892,115 (GRCm39)	missense	probably damaging	1.00
IGL03143:Ceacam3	APN	7	16,892,045 (GRCm39)	nonsense	probably null
IGL03269:Ceacam3	APN	7	16,895,767 (GRCm39)	missense	probably damaging	0.99
R0408:Ceacam3	UTSW	7	16,885,808 (GRCm39)	critical splice donor site	probably benign
R0591:Ceacam3	UTSW	7	16,885,808 (GRCm39)	critical splice donor site	probably null
R1274:Ceacam3	UTSW	7	16,897,064 (GRCm39)	missense	probably damaging	0.98
R1376:Ceacam3	UTSW	7	16,897,088 (GRCm39)	missense	probably damaging	1.00
R1376:Ceacam3	UTSW	7	16,897,088 (GRCm39)	missense	probably damaging	1.00
R1490:Ceacam3	UTSW	7	16,897,071 (GRCm39)	missense	probably damaging	1.00
R1635:Ceacam3	UTSW	7	16,893,902 (GRCm39)	missense	probably damaging	1.00
R1769:Ceacam3	UTSW	7	16,892,301 (GRCm39)	missense	probably damaging	1.00
R2345:Ceacam3	UTSW	7	16,888,925 (GRCm39)	missense	possibly damaging	0.79
R2367:Ceacam3	UTSW	7	16,885,813 (GRCm39)	splice site	probably null
R2403:Ceacam3	UTSW	7	16,895,779 (GRCm39)	missense	probably damaging	1.00
R4030:Ceacam3	UTSW	7	16,892,267 (GRCm39)	missense	probably benign	0.43
R4240:Ceacam3	UTSW	7	16,893,949 (GRCm39)	missense	possibly damaging	0.95
R5305:Ceacam3	UTSW	7	16,885,501 (GRCm39)	missense	probably damaging	1.00
R5314:Ceacam3	UTSW	7	16,892,296 (GRCm39)	missense	possibly damaging	0.94
R5433:Ceacam3	UTSW	7	16,893,808 (GRCm39)	missense	possibly damaging	0.48
R5538:Ceacam3	UTSW	7	16,892,346 (GRCm39)	missense	probably damaging	1.00
R5638:Ceacam3	UTSW	7	16,893,860 (GRCm39)	missense	probably damaging	0.98
R5891:Ceacam3	UTSW	7	16,885,718 (GRCm39)	missense	probably damaging	1.00
R5918:Ceacam3	UTSW	7	16,893,670 (GRCm39)	missense	probably damaging	0.99
R6074:Ceacam3	UTSW	7	16,885,484 (GRCm39)	missense	probably benign	0.05
R6386:Ceacam3	UTSW	7	16,892,144 (GRCm39)	missense	probably benign	0.22
R6439:Ceacam3	UTSW	7	16,892,253 (GRCm39)	missense	possibly damaging	0.59
R6455:Ceacam3	UTSW	7	16,895,863 (GRCm39)	missense	possibly damaging	0.81
R7150:Ceacam3	UTSW	7	16,885,487 (GRCm39)	missense
R7196:Ceacam3	UTSW	7	16,888,881 (GRCm39)	missense
R7201:Ceacam3	UTSW	7	16,892,163 (GRCm39)	nonsense	probably null
R7731:Ceacam3	UTSW	7	16,892,275 (GRCm39)	missense
R7833:Ceacam3	UTSW	7	16,893,778 (GRCm39)	missense
R8202:Ceacam3	UTSW	7	16,896,953 (GRCm39)	missense
R8237:Ceacam3	UTSW	7	16,897,082 (GRCm39)	missense
R8420:Ceacam3	UTSW	7	16,895,608 (GRCm39)	missense
R8696:Ceacam3	UTSW	7	16,893,937 (GRCm39)	missense
R9381:Ceacam3	UTSW	7	16,893,715 (GRCm39)	missense
R9616:Ceacam3	UTSW	7	16,892,078 (GRCm39)	missense
R9633:Ceacam3	UTSW	7	16,895,688 (GRCm39)	missense
R9686:Ceacam3	UTSW	7	16,892,123 (GRCm39)	missense
R9727:Ceacam3	UTSW	7	16,892,262 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GGCGATTGTGTTCAAGAATCTC -3'
(R):5'- TCTGATGGTGGAGTCAGTACAAG -3'

Sequencing Primer
(F):5'- TCAAGAATCTCGAGGTTGCC -3'
(R):5'- CAGTACAAGAGTCTGATCTATTGCC -3'

Posted On

2016-12-15