Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Ceacam5'

536207

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17713238-17761132 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 17752287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 570 (R570*)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081907]

AlphaFold

Q3UKK2

Predicted Effect

probably null
Transcript: ENSMUST00000081907
AA Change: R570*

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: R570*

Domain	Start	End	E-Value	Type
IG	40	141	4.46e-1	SMART
IG_like	160	261	2.96e1	SMART
IG_like	277	378	5.86e0	SMART
IG_like	397	496	4.07e1	SMART
IG	514	615	2.64e0	SMART
IG_like	634	735	2.81e1	SMART
IG	753	853	1.72e-2	SMART
IGc2	869	933	1.28e-10	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180	V336I	probably benign	Het
Abcg3	T	C	5: 104,935,994	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975	G463S	probably damaging	Het
Col12a1	A	T	9: 79,677,234	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,054	Q65L	probably benign	Het
Ddo	A	C	10: 40,637,418	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326		probably null	Het
Ear6	A	G	14: 51,854,428	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186		probably benign	Het
Gm436	A	T	4: 144,670,646	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762		probably null	Het
Neb	G	T	2: 52,293,645	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260	K350Q	probably benign	Het
St13	C	T	15: 81,366,346		probably null	Het
Stard9	A	T	2: 120,714,068	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633		probably null	Het
Tgoln1	A	G	6: 72,615,555	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326	A1431T	probably benign	Het
Zfp592	T	C	7: 81,023,828	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946	T46A	possibly damaging	Het

Other mutations in Ceacam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ceacam5	APN	7	17759556	nonsense	probably null
IGL00981:Ceacam5	APN	7	17745533	missense	probably benign	0.08
IGL01314:Ceacam5	APN	7	17747256	nonsense	probably null
IGL01329:Ceacam5	APN	7	17745609	missense	probably damaging	0.98
IGL01389:Ceacam5	APN	7	17747375	missense	probably damaging	0.96
IGL01418:Ceacam5	APN	7	17745599	missense	probably damaging	1.00
IGL02418:Ceacam5	APN	7	17759434	missense	possibly damaging	0.71
IGL02734:Ceacam5	APN	7	17750812	missense	probably damaging	1.00
IGL03220:Ceacam5	APN	7	17760728	missense	probably damaging	1.00
IGL03377:Ceacam5	APN	7	17715131	missense	probably benign	0.15
IGL03395:Ceacam5	APN	7	17745379	splice site	probably benign
IGL03054:Ceacam5	UTSW	7	17759454	missense	possibly damaging	0.71
R0456:Ceacam5	UTSW	7	17760851	missense	possibly damaging	0.63
R0624:Ceacam5	UTSW	7	17714963	missense	probably benign	0.03
R0847:Ceacam5	UTSW	7	17757837	missense	possibly damaging	0.71
R0879:Ceacam5	UTSW	7	17757702	missense	probably benign	0.16
R0945:Ceacam5	UTSW	7	17747344	missense	probably damaging	1.00
R1382:Ceacam5	UTSW	7	17752165	missense	probably benign	0.33
R1474:Ceacam5	UTSW	7	17747234	missense	probably damaging	1.00
R1526:Ceacam5	UTSW	7	17750695	missense	probably damaging	1.00
R1793:Ceacam5	UTSW	7	17747395	missense	probably benign	0.01
R1851:Ceacam5	UTSW	7	17714910	nonsense	probably null
R1907:Ceacam5	UTSW	7	17752384	missense	possibly damaging	0.85
R1913:Ceacam5	UTSW	7	17759577	nonsense	probably null
R1990:Ceacam5	UTSW	7	17757880	missense	probably damaging	0.99
R1999:Ceacam5	UTSW	7	17747247	missense	possibly damaging	0.66
R2336:Ceacam5	UTSW	7	17747375	missense	probably benign	0.28
R2355:Ceacam5	UTSW	7	17745635	missense	probably damaging	1.00
R3106:Ceacam5	UTSW	7	17747323	missense	probably benign	0.06
R3423:Ceacam5	UTSW	7	17757637	missense	possibly damaging	0.52
R3432:Ceacam5	UTSW	7	17714976	missense	probably benign	0.06
R3686:Ceacam5	UTSW	7	17760823	missense	possibly damaging	0.94
R3713:Ceacam5	UTSW	7	17759338	missense	possibly damaging	0.52
R3878:Ceacam5	UTSW	7	17750581	missense	probably damaging	1.00
R4214:Ceacam5	UTSW	7	17752151	missense	probably benign	0.00
R4335:Ceacam5	UTSW	7	17752129	missense	probably benign
R4725:Ceacam5	UTSW	7	17760677	missense	probably benign	0.26
R4823:Ceacam5	UTSW	7	17757744	missense	possibly damaging	0.71
R4833:Ceacam5	UTSW	7	17752258	missense	probably benign
R4986:Ceacam5	UTSW	7	17757833	missense	possibly damaging	0.85
R5099:Ceacam5	UTSW	7	17745588	missense	probably damaging	0.96
R5365:Ceacam5	UTSW	7	17759548	missense	probably damaging	0.98
R5522:Ceacam5	UTSW	7	17715080	missense	probably benign
R5605:Ceacam5	UTSW	7	17747236	missense	probably benign	0.03
R6199:Ceacam5	UTSW	7	17714885	missense	probably benign	0.00
R6222:Ceacam5	UTSW	7	17745547	missense	probably benign	0.15
R6320:Ceacam5	UTSW	7	17747198	missense	probably damaging	1.00
R6464:Ceacam5	UTSW	7	17747466	critical splice donor site	probably null
R6521:Ceacam5	UTSW	7	17750831	critical splice donor site	probably null
R6568:Ceacam5	UTSW	7	17745491	missense	probably damaging	1.00
R6573:Ceacam5	UTSW	7	17713447	start codon destroyed	probably null	0.70
R6814:Ceacam5	UTSW	7	17752287	nonsense	probably null
R6930:Ceacam5	UTSW	7	17750834	splice site	probably null
R7071:Ceacam5	UTSW	7	17750652	missense	possibly damaging	0.49
R7121:Ceacam5	UTSW	7	17745537	missense	probably benign	0.29
R7174:Ceacam5	UTSW	7	17757914	critical splice donor site	probably null
R7187:Ceacam5	UTSW	7	17759485	missense	possibly damaging	0.85
R7355:Ceacam5	UTSW	7	17747387	missense	probably damaging	1.00
R7411:Ceacam5	UTSW	7	17750753	missense	probably damaging	0.99
R7462:Ceacam5	UTSW	7	17760839	missense	probably damaging	1.00
R7612:Ceacam5	UTSW	7	17759416	missense	possibly damaging	0.86
R7803:Ceacam5	UTSW	7	17759392	missense	probably damaging	0.98
R7943:Ceacam5	UTSW	7	17745566	missense	probably benign	0.26
R8342:Ceacam5	UTSW	7	17752246	missense	possibly damaging	0.53
R8356:Ceacam5	UTSW	7	17745699	missense	possibly damaging	0.68
R8426:Ceacam5	UTSW	7	17759341	missense	possibly damaging	0.51
R8456:Ceacam5	UTSW	7	17745699	missense	possibly damaging	0.68
R8534:Ceacam5	UTSW	7	17750746	missense	probably benign	0.20
R8815:Ceacam5	UTSW	7	17759360	missense	possibly damaging	0.85
R8871:Ceacam5	UTSW	7	17760902	missense	probably benign	0.12
R9021:Ceacam5	UTSW	7	17714952	missense	possibly damaging	0.48
R9157:Ceacam5	UTSW	7	17759494	missense	possibly damaging	0.71
R9199:Ceacam5	UTSW	7	17745425	missense	probably benign	0.16
R9372:Ceacam5	UTSW	7	17747342	missense	possibly damaging	0.84
R9579:Ceacam5	UTSW	7	17745636	missense	probably damaging	1.00
R9605:Ceacam5	UTSW	7	17759595	missense	probably damaging	0.98
R9719:Ceacam5	UTSW	7	17757910	missense	probably damaging	0.97
X0020:Ceacam5	UTSW	7	17760909	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTTTGCAAGTCAAGATCG -3'
(R):5'- AGCTCCTACTAAACAGTTCTGTG -3'

Sequencing Primer
(F):5'- GATCGAATCACTTCCTCGGAATG -3'
(R):5'- GTAGGATAAGCATGTACACCACCTG -3'

Posted On

2018-10-18