Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Ceacam5'

263055

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17713238-17761132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17747323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 332 (Y332H)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

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

AlphaFold

Q3UKK2

Predicted Effect

probably benign
Transcript: ENSMUST00000081907
AA Change: Y332H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: Y332H

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

0.2178

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	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
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
R6872: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'- TCACCCTTTGCAAGTCAAGATCG -3'
(R):5'- GCAATGGGAAAGTCAATATGTCTAG -3'

Sequencing Primer
(F):5'- GAATCACTTCCTCAGAATGTTGCTG -3'
(R):5'- AGTTCCTTCTAGACAGTTCAGTG -3'

Posted On

2015-02-05