Mutagenetix > Incidental Mutation

Incidental Mutation 'R4986:Ceacam5'

385877

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

CEA cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

MMRRC Submission

042580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17491758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 709 (N709K)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

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

AlphaFold

Q3UKK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081907
AA Change: N709K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: N709K

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

0.1257

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,573,317 (GRCm39)	C1005S	probably benign	Het
Armh4	A	T	14: 49,989,111 (GRCm39)	D619E	probably damaging	Het
Ccdc34	T	C	2: 109,848,214 (GRCm39)	M1T	probably null	Het
Ces2f	G	A	8: 105,678,657 (GRCm39)	S298N	probably benign	Het
Defa30	T	A	8: 21,625,432 (GRCm39)	Y65*	probably null	Het
Dock3	A	C	9: 106,809,182 (GRCm39)	C1314G	probably damaging	Het
Emc2	A	G	15: 43,375,180 (GRCm39)	M226V	probably benign	Het
Fat3	T	C	9: 15,909,636 (GRCm39)	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,431,037 (GRCm39)	D560G	probably benign	Het
Gm9944	T	C	4: 144,179,760 (GRCm39)		probably benign	Het
Gpr137c	A	T	14: 45,483,743 (GRCm39)		probably null	Het
Igf2bp2	C	T	16: 21,889,056 (GRCm39)		probably null	Het
Igsf10	T	C	3: 59,236,027 (GRCm39)	T1385A	probably benign	Het
Itpr2	T	A	6: 146,141,840 (GRCm39)	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,690,049 (GRCm39)	H248R	probably damaging	Het
Macf1	C	T	4: 123,284,914 (GRCm39)	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,508,545 (GRCm39)	F266L	possibly damaging	Het
Mecom	G	T	3: 30,034,848 (GRCm39)	P466Q	probably damaging	Het
Muc20	A	G	16: 32,598,009 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,772 (GRCm39)	N170Y	probably damaging	Het
Or5w8	T	A	2: 87,687,858 (GRCm39)	L113Q	probably damaging	Het
Osmr	A	G	15: 6,846,061 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Sacs	T	A	14: 61,450,492 (GRCm39)	Y4179*	probably null	Het
Septin11	T	C	5: 93,309,100 (GRCm39)	V203A	probably damaging	Het
Skint9	T	A	4: 112,248,910 (GRCm39)	T173S	probably benign	Het
Slain1	A	T	14: 103,925,541 (GRCm39)	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,037,592 (GRCm39)	*93C	probably null	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Srl	T	C	16: 4,314,646 (GRCm39)	Y332C	probably benign	Het
Ubtf	G	A	11: 102,205,000 (GRCm39)	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Ybx1	C	T	4: 119,139,627 (GRCm39)	V123I	probably damaging	Het
Zfp944	A	T	17: 22,558,211 (GRCm39)	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,742,014 (GRCm39)	F113I	probably benign	Het

Other mutations in Ceacam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ceacam5	APN	7	17,493,481 (GRCm39)	nonsense	probably null
IGL00981:Ceacam5	APN	7	17,479,458 (GRCm39)	missense	probably benign	0.08
IGL01314:Ceacam5	APN	7	17,481,181 (GRCm39)	nonsense	probably null
IGL01329:Ceacam5	APN	7	17,479,534 (GRCm39)	missense	probably damaging	0.98
IGL01389:Ceacam5	APN	7	17,481,300 (GRCm39)	missense	probably damaging	0.96
IGL01418:Ceacam5	APN	7	17,479,524 (GRCm39)	missense	probably damaging	1.00
IGL02418:Ceacam5	APN	7	17,493,359 (GRCm39)	missense	possibly damaging	0.71
IGL02734:Ceacam5	APN	7	17,484,737 (GRCm39)	missense	probably damaging	1.00
IGL03220:Ceacam5	APN	7	17,494,653 (GRCm39)	missense	probably damaging	1.00
IGL03377:Ceacam5	APN	7	17,449,056 (GRCm39)	missense	probably benign	0.15
IGL03395:Ceacam5	APN	7	17,479,304 (GRCm39)	splice site	probably benign
IGL03054:Ceacam5	UTSW	7	17,493,379 (GRCm39)	missense	possibly damaging	0.71
R0456:Ceacam5	UTSW	7	17,494,776 (GRCm39)	missense	possibly damaging	0.63
R0624:Ceacam5	UTSW	7	17,448,888 (GRCm39)	missense	probably benign	0.03
R0847:Ceacam5	UTSW	7	17,491,762 (GRCm39)	missense	possibly damaging	0.71
R0879:Ceacam5	UTSW	7	17,491,627 (GRCm39)	missense	probably benign	0.16
R0945:Ceacam5	UTSW	7	17,481,269 (GRCm39)	missense	probably damaging	1.00
R1382:Ceacam5	UTSW	7	17,486,090 (GRCm39)	missense	probably benign	0.33
R1474:Ceacam5	UTSW	7	17,481,159 (GRCm39)	missense	probably damaging	1.00
R1526:Ceacam5	UTSW	7	17,484,620 (GRCm39)	missense	probably damaging	1.00
R1793:Ceacam5	UTSW	7	17,481,320 (GRCm39)	missense	probably benign	0.01
R1851:Ceacam5	UTSW	7	17,448,835 (GRCm39)	nonsense	probably null
R1907:Ceacam5	UTSW	7	17,486,309 (GRCm39)	missense	possibly damaging	0.85
R1913:Ceacam5	UTSW	7	17,493,502 (GRCm39)	nonsense	probably null
R1990:Ceacam5	UTSW	7	17,491,805 (GRCm39)	missense	probably damaging	0.99
R1999:Ceacam5	UTSW	7	17,481,172 (GRCm39)	missense	possibly damaging	0.66
R2336:Ceacam5	UTSW	7	17,481,300 (GRCm39)	missense	probably benign	0.28
R2355:Ceacam5	UTSW	7	17,479,560 (GRCm39)	missense	probably damaging	1.00
R3106:Ceacam5	UTSW	7	17,481,248 (GRCm39)	missense	probably benign	0.06
R3423:Ceacam5	UTSW	7	17,491,562 (GRCm39)	missense	possibly damaging	0.52
R3432:Ceacam5	UTSW	7	17,448,901 (GRCm39)	missense	probably benign	0.06
R3686:Ceacam5	UTSW	7	17,494,748 (GRCm39)	missense	possibly damaging	0.94
R3713:Ceacam5	UTSW	7	17,493,263 (GRCm39)	missense	possibly damaging	0.52
R3878:Ceacam5	UTSW	7	17,484,506 (GRCm39)	missense	probably damaging	1.00
R4214:Ceacam5	UTSW	7	17,486,076 (GRCm39)	missense	probably benign	0.00
R4335:Ceacam5	UTSW	7	17,486,054 (GRCm39)	missense	probably benign
R4725:Ceacam5	UTSW	7	17,494,602 (GRCm39)	missense	probably benign	0.26
R4823:Ceacam5	UTSW	7	17,491,669 (GRCm39)	missense	possibly damaging	0.71
R4833:Ceacam5	UTSW	7	17,486,183 (GRCm39)	missense	probably benign
R5099:Ceacam5	UTSW	7	17,479,513 (GRCm39)	missense	probably damaging	0.96
R5365:Ceacam5	UTSW	7	17,493,473 (GRCm39)	missense	probably damaging	0.98
R5522:Ceacam5	UTSW	7	17,449,005 (GRCm39)	missense	probably benign
R5605:Ceacam5	UTSW	7	17,481,161 (GRCm39)	missense	probably benign	0.03
R6199:Ceacam5	UTSW	7	17,448,810 (GRCm39)	missense	probably benign	0.00
R6222:Ceacam5	UTSW	7	17,479,472 (GRCm39)	missense	probably benign	0.15
R6320:Ceacam5	UTSW	7	17,481,123 (GRCm39)	missense	probably damaging	1.00
R6464:Ceacam5	UTSW	7	17,481,391 (GRCm39)	critical splice donor site	probably null
R6521:Ceacam5	UTSW	7	17,484,756 (GRCm39)	critical splice donor site	probably null
R6568:Ceacam5	UTSW	7	17,479,416 (GRCm39)	missense	probably damaging	1.00
R6573:Ceacam5	UTSW	7	17,447,372 (GRCm39)	start codon destroyed	probably null	0.70
R6814:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6872:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6930:Ceacam5	UTSW	7	17,484,759 (GRCm39)	splice site	probably null
R7071:Ceacam5	UTSW	7	17,484,577 (GRCm39)	missense	possibly damaging	0.49
R7121:Ceacam5	UTSW	7	17,479,462 (GRCm39)	missense	probably benign	0.29
R7174:Ceacam5	UTSW	7	17,491,839 (GRCm39)	critical splice donor site	probably null
R7187:Ceacam5	UTSW	7	17,493,410 (GRCm39)	missense	possibly damaging	0.85
R7355:Ceacam5	UTSW	7	17,481,312 (GRCm39)	missense	probably damaging	1.00
R7411:Ceacam5	UTSW	7	17,484,678 (GRCm39)	missense	probably damaging	0.99
R7462:Ceacam5	UTSW	7	17,494,764 (GRCm39)	missense	probably damaging	1.00
R7612:Ceacam5	UTSW	7	17,493,341 (GRCm39)	missense	possibly damaging	0.86
R7803:Ceacam5	UTSW	7	17,493,317 (GRCm39)	missense	probably damaging	0.98
R7943:Ceacam5	UTSW	7	17,479,491 (GRCm39)	missense	probably benign	0.26
R8342:Ceacam5	UTSW	7	17,486,171 (GRCm39)	missense	possibly damaging	0.53
R8356:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8426:Ceacam5	UTSW	7	17,493,266 (GRCm39)	missense	possibly damaging	0.51
R8456:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8534:Ceacam5	UTSW	7	17,484,671 (GRCm39)	missense	probably benign	0.20
R8815:Ceacam5	UTSW	7	17,493,285 (GRCm39)	missense	possibly damaging	0.85
R8871:Ceacam5	UTSW	7	17,494,827 (GRCm39)	missense	probably benign	0.12
R9021:Ceacam5	UTSW	7	17,448,877 (GRCm39)	missense	possibly damaging	0.48
R9157:Ceacam5	UTSW	7	17,493,419 (GRCm39)	missense	possibly damaging	0.71
R9199:Ceacam5	UTSW	7	17,479,350 (GRCm39)	missense	probably benign	0.16
R9372:Ceacam5	UTSW	7	17,481,267 (GRCm39)	missense	possibly damaging	0.84
R9579:Ceacam5	UTSW	7	17,479,561 (GRCm39)	missense	probably damaging	1.00
R9605:Ceacam5	UTSW	7	17,493,520 (GRCm39)	missense	probably damaging	0.98
R9719:Ceacam5	UTSW	7	17,491,835 (GRCm39)	missense	probably damaging	0.97
X0020:Ceacam5	UTSW	7	17,494,834 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCAGTATAGAATCAGTGCCCC -3'
(R):5'- TTGAGACACAATGCAGTGGG -3'

Sequencing Primer
(F):5'- GAAAGTGTTCTTCTACTGGTTCAC -3'
(R):5'- GGAAGGAGACACAATACAGTCATGAC -3'

Posted On

2016-05-10