Mutagenetix > Incidental Mutation

Incidental Mutation 'R0847:Ceacam5'

77012

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

CEA cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

MMRRC Submission

039026-MU

Accession Numbers

Essential gene?

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

Stock #

R0847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17491762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 711 (T711A)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

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

AlphaFold

Q3UKK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081907
AA Change: T711A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: T711A

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,895,764 (GRCm39)	I899T	probably damaging	Het
Ahnak	C	T	19: 8,983,797 (GRCm39)	Q1694*	probably null	Het
Cblc	A	T	7: 19,524,459 (GRCm39)	Y260*	probably null	Het
Ccn4	T	G	15: 66,791,124 (GRCm39)	C309G	probably damaging	Het
Cep63	A	G	9: 102,465,957 (GRCm39)	S690P	probably benign	Het
Chia1	A	T	3: 106,039,253 (GRCm39)	I448F	probably benign	Het
Dmxl2	A	T	9: 54,313,112 (GRCm39)	F1712I	probably damaging	Het
Ecpas	G	A	4: 58,841,439 (GRCm39)	T645I	probably benign	Het
Exosc3	A	G	4: 45,319,695 (GRCm39)	V109A	probably damaging	Het
Fxyd7	A	G	7: 30,744,029 (GRCm39)	C60R	probably damaging	Het
Gm17349	C	A	15: 99,600,289 (GRCm39)		probably benign	Het
Gpn2	A	G	4: 133,315,906 (GRCm39)	N199D	probably benign	Het
Ints12	C	T	3: 132,814,603 (GRCm39)	T270M	possibly damaging	Het
Kdm4a	C	T	4: 118,021,695 (GRCm39)	E266K	probably damaging	Het
Kremen2	G	T	17: 23,963,634 (GRCm39)	T50N	probably damaging	Het
Macf1	A	T	4: 123,293,159 (GRCm39)	D1249E	probably benign	Het
Mdga2	T	A	12: 66,769,854 (GRCm39)	K146N	probably damaging	Het
Med20	G	A	17: 47,922,618 (GRCm39)		probably null	Het
Myo18b	T	C	5: 113,022,354 (GRCm39)		probably benign	Het
Nav3	T	A	10: 109,739,718 (GRCm39)	T84S	possibly damaging	Het
Olfm2	A	G	9: 20,579,953 (GRCm39)	V266A	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or5b123	C	T	19: 13,596,915 (GRCm39)	H87Y	probably benign	Het
Or6c69b	T	A	10: 129,627,327 (GRCm39)	I44F	probably damaging	Het
Pthlh	A	T	6: 147,164,766 (GRCm39)		probably null	Het
Rpap3	C	T	15: 97,601,082 (GRCm39)		probably null	Het
Rprd2	A	G	3: 95,672,725 (GRCm39)	S893P	probably benign	Het
Sacm1l	G	A	9: 123,377,927 (GRCm39)	G69D	probably damaging	Het
Slc27a4	T	C	2: 29,701,261 (GRCm39)	S351P	probably benign	Het
Sobp	C	G	10: 42,898,415 (GRCm39)	R390P	probably damaging	Het
Spata7	T	A	12: 98,614,689 (GRCm39)	M107K	possibly damaging	Het
Sri	G	A	5: 8,113,755 (GRCm39)		probably null	Het
Stab2	T	C	10: 86,805,735 (GRCm39)	I204V	probably benign	Het
Synm	T	C	7: 67,384,804 (GRCm39)	I511V	probably damaging	Het
Tbr1	T	C	2: 61,635,373 (GRCm39)	S108P	probably benign	Het
Tln1	A	G	4: 43,555,333 (GRCm39)	F197S	probably damaging	Het
Tmem167b	C	T	3: 108,467,537 (GRCm39)	G46R	probably benign	Het
Tmprss11g	T	C	5: 86,638,585 (GRCm39)	K301R	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm2	C	T	10: 77,765,122 (GRCm39)	V960M	possibly damaging	Het
Ube3a	G	A	7: 58,926,334 (GRCm39)	D371N	possibly damaging	Het
Vmn2r57	A	T	7: 41,078,225 (GRCm39)	F78I	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
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
R4986:Ceacam5	UTSW	7	17,491,758 (GRCm39)	missense	possibly damaging	0.85
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'- AGGCTCAGTATAGAATCAGTGCCCC -3'
(R):5'- TCCACCCTGTGTGACCTACACTAAG -3'

Sequencing Primer
(F):5'- agcattgttggaggggaaag -3'
(R):5'- TGTGTGACCTACACTAAGTGTTC -3'

Posted On

2013-10-16