Mutagenetix > Incidental Mutation

Incidental Mutation 'R1485:Mcam'

163408

Institutional Source

Beutler Lab

Gene Symbol

Mcam

Ensembl Gene

ENSMUSG00000032135

Gene Name

melanoma cell adhesion molecule

Synonyms

s-endo, 1-gicerin, s-gicerin, CD146, Muc18

MMRRC Submission

039538-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R1485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44045946-44054024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44048060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 72 (I72N)

Ref Sequence

ENSEMBL: ENSMUSP00000149002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034650] [ENSMUST00000098852] [ENSMUST00000147836] [ENSMUST00000149241] [ENSMUST00000216002]

AlphaFold

Q8R2Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034650
AA Change: I75N

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

SMART Domains

Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: I75N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	35	135	6.61e-4	SMART
IG_like	155	213	4.22e-1	SMART
IG	259	343	8.13e-4	SMART
IGc2	358	416	3.4e-6	SMART
IG_like	445	508	1.92e0	SMART
low complexity region	511	525	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098852
AA Change: I75N

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

SMART Domains

Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: I75N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	35	135	6.61e-4	SMART
IG_like	155	213	4.22e-1	SMART
IG	259	343	8.13e-4	SMART
IGc2	358	416	3.4e-6	SMART
IG_like	445	508	1.92e0	SMART
low complexity region	511	525	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132490

Predicted Effect

probably damaging
Transcript: ENSMUST00000147836
AA Change: I44N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135
AA Change: I44N

Domain	Start	End	E-Value	Type
Pfam:V-set	2	97	2.4e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000149241
AA Change: D133E

SMART Domains

Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135
AA Change: D133E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	64	76	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180670

Predicted Effect

probably damaging
Transcript: ENSMUST00000216002
AA Change: I72N

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,727,738 (GRCm39)	S301P	probably damaging	Het
AI987944	C	A	7: 41,023,954 (GRCm39)	G342*	probably null	Het
Alox5	A	T	6: 116,401,125 (GRCm39)	F212I	probably damaging	Het
Apaf1	A	T	10: 90,896,105 (GRCm39)	D322E	probably benign	Het
Aste1	T	A	9: 105,275,009 (GRCm39)	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,588,063 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,176,406 (GRCm39)	Y1836C	probably damaging	Het
Castor2	T	A	5: 134,165,972 (GRCm39)	L240Q	probably damaging	Het
Ccdc77	G	A	6: 120,315,101 (GRCm39)	Q183*	probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Coch	G	T	12: 51,645,072 (GRCm39)	V209F	probably damaging	Het
Cops3	G	A	11: 59,718,715 (GRCm39)	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,387 (GRCm39)		probably null	Het
D6Ertd527e	A	T	6: 87,088,067 (GRCm39)	S77C	unknown	Het
Defb7	A	G	8: 19,545,110 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,590,603 (GRCm39)		probably null	Het
Entpd6	T	A	2: 150,610,843 (GRCm39)		probably null	Het
Evc2	C	T	5: 37,527,900 (GRCm39)	A303V	probably benign	Het
Fhod1	T	C	8: 106,063,430 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,712,676 (GRCm39)	F54I	probably benign	Het
Gm7104	C	A	12: 88,252,333 (GRCm39)		noncoding transcript	Het
Grid1	A	T	14: 34,544,540 (GRCm39)	D37V	probably damaging	Het
Icam5	G	A	9: 20,947,702 (GRCm39)	A560T	probably benign	Het
Igf2r	A	C	17: 12,910,172 (GRCm39)	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,153,929 (GRCm39)	V65A	probably benign	Het
Kif3b	T	C	2: 153,164,851 (GRCm39)		probably null	Het
Kmt2a	T	G	9: 44,738,225 (GRCm39)		probably benign	Het
Marchf6	T	A	15: 31,498,839 (GRCm39)	T153S	probably damaging	Het
Ncoa4-ps	A	G	12: 119,224,785 (GRCm39)		noncoding transcript	Het
Nkain3	T	C	4: 20,484,932 (GRCm39)	I48M	probably damaging	Het
Nop58	T	A	1: 59,737,504 (GRCm39)	I107N	probably damaging	Het
Notch2	A	G	3: 98,007,573 (GRCm39)	H441R	probably benign	Het
Nr1d1	G	A	11: 98,661,187 (GRCm39)	R360C	probably benign	Het
Or56a5	A	G	7: 104,792,888 (GRCm39)	I210T	probably benign	Het
Pclo	T	C	5: 14,763,793 (GRCm39)	S4089P	unknown	Het
Pi4kb	A	G	3: 94,901,698 (GRCm39)	E455G	probably damaging	Het
Piezo1	T	C	8: 123,208,788 (GRCm39)	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,016,908 (GRCm39)	V283A	possibly damaging	Het
Pramel12	G	A	4: 143,144,188 (GRCm39)	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Rasa2	A	G	9: 96,426,401 (GRCm39)	I815T	probably benign	Het
Rev1	A	T	1: 38,127,653 (GRCm39)	D202E	probably benign	Het
Septin14	C	T	5: 129,770,118 (GRCm39)	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,876,370 (GRCm39)	S112G	probably benign	Het
Siah3	T	A	14: 75,762,994 (GRCm39)	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,250,853 (GRCm39)	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,765,548 (GRCm39)	L313F	probably damaging	Het
Smdt1	T	C	15: 82,230,433 (GRCm39)	V50A	probably benign	Het
Spata31e2	T	G	1: 26,724,961 (GRCm39)	K73T	possibly damaging	Het
Supt3	G	A	17: 45,347,607 (GRCm39)	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492 (GRCm39)	I742T	possibly damaging	Het
Tex44	T	A	1: 86,355,640 (GRCm39)	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,420,917 (GRCm39)	D171E	probably damaging	Het
Trim31	A	C	17: 37,209,568 (GRCm39)	D108A	probably damaging	Het
Ubr1	T	C	2: 120,791,579 (GRCm39)	N135S	probably benign	Het
Uso1	G	A	5: 92,328,422 (GRCm39)	V340I	possibly damaging	Het
Utp6	A	C	11: 79,839,749 (GRCm39)	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,109 (GRCm39)	V554A	possibly damaging	Het
Xdh	C	A	17: 74,221,014 (GRCm39)	E572*	probably null	Het
Zbtb7c	T	C	18: 76,270,061 (GRCm39)	S50P	probably damaging	Het
Zfp672	A	G	11: 58,220,395 (GRCm39)		probably benign	Het
Zzef1	A	G	11: 72,791,635 (GRCm39)		probably null	Het

Other mutations in Mcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02408:Mcam	APN	9	44,051,547 (GRCm39)	missense	probably benign	0.01
IGL02671:Mcam	APN	9	44,048,331 (GRCm39)	splice site	probably benign
IGL02682:Mcam	APN	9	44,051,714 (GRCm39)	missense	possibly damaging	0.80
IGL03384:Mcam	APN	9	44,051,809 (GRCm39)	unclassified	probably benign
R0238:Mcam	UTSW	9	44,051,502 (GRCm39)	splice site	probably null
R0238:Mcam	UTSW	9	44,051,502 (GRCm39)	splice site	probably null
R0320:Mcam	UTSW	9	44,051,483 (GRCm39)	missense	possibly damaging	0.89
R1432:Mcam	UTSW	9	44,052,588 (GRCm39)	missense	probably damaging	0.98
R1503:Mcam	UTSW	9	44,052,588 (GRCm39)	missense	probably damaging	0.98
R1730:Mcam	UTSW	9	44,046,003 (GRCm39)	missense	probably damaging	1.00
R1783:Mcam	UTSW	9	44,046,003 (GRCm39)	missense	probably damaging	1.00
R2146:Mcam	UTSW	9	44,047,932 (GRCm39)	missense	probably damaging	0.99
R2150:Mcam	UTSW	9	44,047,932 (GRCm39)	missense	probably damaging	0.99
R2215:Mcam	UTSW	9	44,051,250 (GRCm39)	nonsense	probably null
R4366:Mcam	UTSW	9	44,045,994 (GRCm39)	missense	probably damaging	1.00
R4519:Mcam	UTSW	9	44,052,640 (GRCm39)	missense	possibly damaging	0.95
R4948:Mcam	UTSW	9	44,047,863 (GRCm39)	missense	probably damaging	1.00
R5965:Mcam	UTSW	9	44,047,925 (GRCm39)	missense	probably damaging	1.00
R6704:Mcam	UTSW	9	44,048,217 (GRCm39)	missense	probably benign	0.06
R6955:Mcam	UTSW	9	44,050,566 (GRCm39)	missense	probably damaging	1.00
R7273:Mcam	UTSW	9	44,052,241 (GRCm39)	missense	possibly damaging	0.78
R7529:Mcam	UTSW	9	44,050,192 (GRCm39)	missense	probably benign	0.08
R7623:Mcam	UTSW	9	44,050,955 (GRCm39)	missense	probably benign	0.28
R7659:Mcam	UTSW	9	44,048,067 (GRCm39)	missense	unknown
R8066:Mcam	UTSW	9	44,052,257 (GRCm39)	missense	probably damaging	1.00
R9113:Mcam	UTSW	9	44,051,693 (GRCm39)	missense	probably benign	0.04
R9184:Mcam	UTSW	9	44,046,545 (GRCm39)	intron	probably benign
R9278:Mcam	UTSW	9	44,046,473 (GRCm39)	intron	probably benign
Z1177:Mcam	UTSW	9	44,045,887 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGGCAACTTCAGCCAAGTGGAC -3'
(R):5'- TGAACAGGGACATGGAGACCCATC -3'

Sequencing Primer
(F):5'- GACTGGTTTTTGGTGAGCG -3'
(R):5'- GACATGGAGACCCATCTTTGC -3'

Posted On

2014-03-28