Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:Cercam'

655440

Institutional Source

Beutler Lab

Gene Symbol

Cercam

Ensembl Gene

ENSMUSG00000039787

Gene Name

cerebral endothelial cell adhesion molecule

Synonyms

CerCAM, Ceecam1

MMRRC Submission

067840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29759176-29772852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29771829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 550 (S550P)

Ref Sequence

ENSEMBL: ENSMUSP00000041622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047521]

AlphaFold

A3KGW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047521
AA Change: S550P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: S550P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_tranf_2_4	37	157	2.6e-15	PFAM
Pfam:Glyco_transf_25	316	500	3.2e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,922,983 (GRCm39)	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,173,491 (GRCm39)	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,757,840 (GRCm39)	E758G	probably benign	Het
Akap3	T	A	6: 126,841,493 (GRCm39)	D37E	probably damaging	Het
Ano5	A	T	7: 51,222,776 (GRCm39)	H445L	probably benign	Het
Ap4b1	T	A	3: 103,720,116 (GRCm39)	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,470,354 (GRCm39)	K135E	probably benign	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,885,366 (GRCm39)	Y1119*	probably null	Het
Birc6	T	A	17: 74,959,000 (GRCm39)	M3839K	probably damaging	Het
Cacna1a	A	G	8: 85,365,370 (GRCm39)	H2171R	probably benign	Het
Ccdc90b	T	A	7: 92,224,545 (GRCm39)	D183E	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh23	T	A	10: 60,274,618 (GRCm39)	T491S	probably benign	Het
Chd9	A	G	8: 91,723,472 (GRCm39)	H1019R	unknown	Het
Coil	A	T	11: 88,871,980 (GRCm39)	K114*	probably null	Het
Csmd2	A	C	4: 128,440,483 (GRCm39)	T3183P		Het
Cul9	T	C	17: 46,814,506 (GRCm39)	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,587,186 (GRCm39)	Q199*	probably null	Het
Elp3	A	T	14: 65,785,360 (GRCm39)	S499R	probably benign	Het
Exoc8	T	G	8: 125,622,709 (GRCm39)	I553L	probably benign	Het
Fyco1	C	A	9: 123,659,142 (GRCm39)	V345L	probably benign	Het
Galr3	T	A	15: 78,927,279 (GRCm39)	V240E	probably damaging	Het
Gm21190	A	G	5: 15,730,862 (GRCm39)	S165P	probably benign	Het
Gnal	T	A	18: 67,350,255 (GRCm39)	Y372*	probably null	Het
H2-DMa	A	G	17: 34,357,416 (GRCm39)	N230D	probably damaging	Het
Hk2	T	C	6: 82,721,847 (GRCm39)	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,544 (GRCm39)	I16F	possibly damaging	Het
Ivl	T	C	3: 92,480,078 (GRCm39)		probably benign	Het
Klhl8	G	A	5: 104,015,814 (GRCm39)	T434M	probably benign	Het
Lct	A	T	1: 128,215,306 (GRCm39)	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,810,065 (GRCm39)	Y132F	probably damaging	Het
M6pr	T	C	6: 122,293,029 (GRCm39)	V203A	possibly damaging	Het
Map9	T	C	3: 82,284,476 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,360,892 (GRCm39)	D1401V	probably damaging	Het
Myh7	A	G	14: 55,227,786 (GRCm39)	S291P	probably damaging	Het
Nynrin	G	C	14: 56,107,703 (GRCm39)	V937L	probably benign	Het
Or5d44	C	T	2: 88,141,825 (GRCm39)	G105D	probably benign	Het
Or5m3	T	G	2: 85,838,149 (GRCm39)	F10V	probably damaging	Het
Pank2	A	G	2: 131,135,320 (GRCm39)	N386S	probably benign	Het
Phkg2	G	T	7: 127,181,528 (GRCm39)	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,590,432 (GRCm39)	V1772I	probably benign	Het
Plch2	G	T	4: 155,068,852 (GRCm39)	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,369,764 (GRCm39)	I77N	probably damaging	Het
Ptprb	A	G	10: 116,176,936 (GRCm39)	T954A	probably benign	Het
Ranbp3	T	C	17: 57,015,273 (GRCm39)	V325A	probably damaging	Het
Rgs10	A	T	7: 128,019,793 (GRCm39)	S16T	probably benign	Het
Scaper	A	T	9: 55,771,722 (GRCm39)	V398E	probably benign	Het
Selenot	A	G	3: 58,492,698 (GRCm39)	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,439,092 (GRCm39)	C173S	probably benign	Het
Slc13a3	G	T	2: 165,275,999 (GRCm39)	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,701,171 (GRCm39)	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,291,390 (GRCm39)	L256R	probably damaging	Het
Tektl1	T	C	10: 78,585,038 (GRCm39)	D266G	probably benign	Het
Tektl1	T	C	10: 78,586,463 (GRCm39)	D196G	probably damaging	Het
Top2a	C	T	11: 98,905,567 (GRCm39)	V337I	probably benign	Het
Tut4	T	C	4: 108,388,139 (GRCm39)	L1160P	probably damaging	Het
Unc13a	A	C	8: 72,098,405 (GRCm39)	F1127V	possibly damaging	Het
Wdr25	C	T	12: 108,992,393 (GRCm39)	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,664,719 (GRCm39)	L526R	probably damaging	Het
Zeb1	C	A	18: 5,705,127 (GRCm39)	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,303,243 (GRCm39)	S1580R	probably benign	Het
Zfhx3	A	G	8: 109,583,549 (GRCm39)	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,179,492 (GRCm39)	V1038L	probably benign	Het
Zfp759	T	A	13: 67,286,947 (GRCm39)	V166E	probably benign	Het
Zfp985	A	T	4: 147,667,883 (GRCm39)	K250N	possibly damaging	Het

Other mutations in Cercam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Cercam	APN	2	29,771,015 (GRCm39)	missense	probably damaging	1.00
IGL02619:Cercam	APN	2	29,770,686 (GRCm39)	missense	probably benign	0.05
IGL03088:Cercam	APN	2	29,771,699 (GRCm39)	splice site	probably benign
I1329:Cercam	UTSW	2	29,761,097 (GRCm39)	missense	probably damaging	1.00
P0042:Cercam	UTSW	2	29,771,095 (GRCm39)	missense	probably damaging	1.00
R0086:Cercam	UTSW	2	29,761,076 (GRCm39)	missense	probably damaging	1.00
R0829:Cercam	UTSW	2	29,761,079 (GRCm39)	missense	probably damaging	0.98
R1442:Cercam	UTSW	2	29,770,652 (GRCm39)	missense	probably benign
R1558:Cercam	UTSW	2	29,766,251 (GRCm39)	missense	probably benign	0.35
R1997:Cercam	UTSW	2	29,762,935 (GRCm39)	missense	probably benign	0.11
R4678:Cercam	UTSW	2	29,759,689 (GRCm39)	missense	probably damaging	1.00
R4889:Cercam	UTSW	2	29,771,845 (GRCm39)	missense	probably damaging	0.96
R4891:Cercam	UTSW	2	29,759,283 (GRCm39)	unclassified	probably benign
R4967:Cercam	UTSW	2	29,761,033 (GRCm39)	critical splice acceptor site	probably null
R5052:Cercam	UTSW	2	29,765,639 (GRCm39)	missense	probably damaging	1.00
R5541:Cercam	UTSW	2	29,765,641 (GRCm39)	missense	probably benign
R5650:Cercam	UTSW	2	29,771,827 (GRCm39)	missense	probably damaging	1.00
R7072:Cercam	UTSW	2	29,771,936 (GRCm39)	missense	probably benign	0.00
R7422:Cercam	UTSW	2	29,762,892 (GRCm39)	missense	possibly damaging	0.81
R7585:Cercam	UTSW	2	29,771,743 (GRCm39)	missense	probably damaging	1.00
R7725:Cercam	UTSW	2	29,762,574 (GRCm39)	critical splice acceptor site	probably null
R7730:Cercam	UTSW	2	29,762,574 (GRCm39)	critical splice acceptor site	probably null
R7747:Cercam	UTSW	2	29,761,298 (GRCm39)	missense	probably benign	0.02
R9010:Cercam	UTSW	2	29,766,071 (GRCm39)	missense	possibly damaging	0.95
R9185:Cercam	UTSW	2	29,766,033 (GRCm39)	missense	possibly damaging	0.53
RF016:Cercam	UTSW	2	29,759,317 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGTCAGAGGTACTGCAGAC -3'
(R):5'- ATTCCCACTTGGACCTCATG -3'

Sequencing Primer
(F):5'- TGCAGACAGTCAAGGCCC -3'
(R):5'- ACTTGGACCTCATGGGCTAG -3'

Posted On

2020-10-20