Mutagenetix > Incidental Mutation

Incidental Mutation 'R9579:Ceacam5'

722454

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

CEA cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9579 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17479561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 226 (S226Y)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

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

AlphaFold

Q3UKK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081907
AA Change: S226Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: S226Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	A	11: 46,009,262 (GRCm39)	H229N	probably benign	Het
Ak9	C	A	10: 41,213,576 (GRCm39)	H260Q		Het
Akap3	G	A	6: 126,850,974 (GRCm39)	V831I	probably damaging	Het
Arhgap45	T	C	10: 79,853,843 (GRCm39)	F119S	probably benign	Het
Best3	A	G	10: 116,829,100 (GRCm39)	T127A	probably damaging	Het
Ccdc7a	G	A	8: 129,774,134 (GRCm39)	Q134*	probably null	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cul4a	G	A	8: 13,186,147 (GRCm39)	E450K	probably damaging	Het
Cyb5a	A	T	18: 84,891,273 (GRCm39)	R89S	probably benign	Het
Dnah2	A	G	11: 69,368,041 (GRCm39)	L1766P	probably damaging	Het
Gbp4	T	C	5: 105,270,947 (GRCm39)	E228G	probably damaging	Het
Ghr	A	G	15: 3,349,612 (GRCm39)	I522T	probably benign	Het
Gm5225	A	C	17: 24,242,897 (GRCm39)	H22P	possibly damaging	Het
Herc2	T	A	7: 55,758,500 (GRCm39)	C796S	probably damaging	Het
Hmgxb4	G	T	8: 75,756,638 (GRCm39)	A588S	probably damaging	Het
Lats2	G	A	14: 57,937,191 (GRCm39)	P433S	probably damaging	Het
Lrfn1	C	T	7: 28,166,769 (GRCm39)	T721I	probably damaging	Het
Matcap1	A	T	8: 106,012,379 (GRCm39)	S23T	probably benign	Het
Mpzl3	G	A	9: 44,973,350 (GRCm39)	V30I	probably benign	Het
Or2r3	A	T	6: 42,448,574 (GRCm39)	C179*	probably null	Het
Pcdh15	A	G	10: 74,457,117 (GRCm39)	Y1298C	possibly damaging	Het
Plcd4	C	A	1: 74,596,948 (GRCm39)	H397N	probably benign	Het
Pnn	G	A	12: 59,117,030 (GRCm39)	A201T	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rabl3	T	C	16: 37,362,230 (GRCm39)	V23A	probably damaging	Het
Rnf157	T	C	11: 116,240,822 (GRCm39)	N423S	probably benign	Het
Rtn1	T	C	12: 72,270,289 (GRCm39)	D601G	probably damaging	Het
Rxfp1	A	G	3: 79,557,946 (GRCm39)	Y511H	probably damaging	Het
Sema5b	T	C	16: 35,467,582 (GRCm39)	M282T	probably benign	Het
Slco5a1	G	T	1: 12,949,383 (GRCm39)	S669*	probably null	Het
Sphkap	C	G	1: 83,255,295 (GRCm39)	G818A	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,942,107 (GRCm39)	S12G	probably damaging	Het
Tmem150a	C	A	6: 72,334,070 (GRCm39)	Q51K	probably benign	Het
Ttn	C	T	2: 76,550,196 (GRCm39)	D31662N	probably damaging	Het
Ttn	C	T	2: 76,578,602 (GRCm39)	G24097D	probably damaging	Het
Tubb4b	T	C	2: 25,114,139 (GRCm39)	T55A	probably benign	Het
Vcan	A	T	13: 89,837,713 (GRCm39)	D2610E	possibly damaging	Het
Xkr5	T	C	8: 18,983,785 (GRCm39)	T586A	probably benign	Het
Zfp260	T	C	7: 29,805,108 (GRCm39)	F336S		Het
Zic1	A	G	9: 91,246,790 (GRCm39)	F94S	probably damaging	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
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
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'- ACATGTGAGCACCCTTCTCC -3'
(R):5'- GCATGACAATCCTGTGTGTC -3'

Sequencing Primer
(F):5'- ATTGAATCAGTGCCACCCGG -3'
(R):5'- GCATGACAATCCTGTGTGTCTAAGC -3'

Posted On

2022-08-09