Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Mcam'

233841

Institutional Source

Beutler Lab

Gene Symbol

Mcam

Ensembl Gene

ENSMUSG00000032135

Gene Name

melanoma cell adhesion molecule

Synonyms

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

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44134469-44142727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44136635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 59 (V59A)

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: V62A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: V62A

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: V62A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: V62A

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: V31A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135
AA Change: V31A

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

Predicted Effect

silent
Transcript: ENSMUST00000149241

SMART Domains

Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135

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: V59A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.5203

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844 (GRCm38)		probably null	Het
9530002B09Rik	T	A	4: 122,689,405 (GRCm38)	C13*	probably null	Het
Abca12	C	A	1: 71,263,488 (GRCm38)	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003 (GRCm38)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500 (GRCm38)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318 (GRCm38)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226 (GRCm38)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465 (GRCm38)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999 (GRCm38)		probably benign	Het
Ccdc185	G	T	1: 182,747,520 (GRCm38)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225 (GRCm38)		probably benign	Het
Cd163	A	G	6: 124,309,208 (GRCm38)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943 (GRCm38)	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699 (GRCm38)	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401 (GRCm38)		probably null	Het
Chsy3	G	A	18: 59,176,472 (GRCm38)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822 (GRCm38)	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379 (GRCm38)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
Cstf1	T	C	2: 172,375,763 (GRCm38)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358 (GRCm38)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 89,406,277 (GRCm38)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,555,060 (GRCm38)	H762L	probably benign	Het
Dennd3	C	T	15: 73,523,496 (GRCm38)	T146M	probably damaging	Het
Dnah2	T	C	11: 69,515,761 (GRCm38)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383 (GRCm38)	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610 (GRCm38)	L458R	probably benign	Het
Fat3	A	T	9: 15,990,512 (GRCm38)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550 (GRCm38)	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125 (GRCm38)	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648 (GRCm38)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516 (GRCm38)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298 (GRCm38)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm38)		probably benign	Het
Ints9	G	A	14: 64,986,343 (GRCm38)	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613 (GRCm38)	W441R	probably damaging	Het
Itga10	G	T	3: 96,653,723 (GRCm38)	G635W	probably damaging	Het
Itga10	T	C	3: 96,651,492 (GRCm38)	L382P	possibly damaging	Het
Kbtbd2	A	G	6: 56,779,090 (GRCm38)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309 (GRCm38)	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141 (GRCm38)	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958 (GRCm38)	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802 (GRCm38)	V144E	probably benign	Het
Mdga2	C	T	12: 66,868,741 (GRCm38)	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627 (GRCm38)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718 (GRCm38)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,390,513 (GRCm38)	M341K	probably damaging	Het
Mideas	G	T	12: 84,173,035 (GRCm38)	P382T	probably damaging	Het
Mospd2	A	G	X: 164,956,477 (GRCm38)		probably null	Het
Mycbp2	G	A	14: 103,155,922 (GRCm38)	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771 (GRCm38)	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm38)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,314,121 (GRCm38)	T55A	probably benign	Het
Or8i2	T	A	2: 87,021,665 (GRCm38)	N293I	probably damaging	Het
Parvb	A	G	15: 84,232,168 (GRCm38)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752 (GRCm38)	M490V	probably benign	Het
Pkd2	A	C	5: 104,455,590 (GRCm38)		probably benign	Het
Reps1	T	A	10: 18,093,313 (GRCm38)	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582 (GRCm38)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486 (GRCm38)	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893 (GRCm38)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927 (GRCm38)	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023 (GRCm38)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152 (GRCm38)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450 (GRCm38)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180 (GRCm38)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603 (GRCm38)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464 (GRCm38)	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932 (GRCm38)	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629 (GRCm38)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,518,991 (GRCm38)	F460L	probably benign	Het
Tmem131	C	A	1: 36,812,609 (GRCm38)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036 (GRCm38)	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,897,188 (GRCm38)		probably benign	Het
Usp16	T	C	16: 87,473,187 (GRCm38)		probably null	Het
Usp36	A	G	11: 118,268,665 (GRCm38)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm38)	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134 (GRCm38)	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982 (GRCm38)	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332 (GRCm38)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664 (GRCm38)	T946A	probably benign	Het

Other mutations in Mcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02408:Mcam	APN	9	44,140,250 (GRCm38)	missense	probably benign	0.01
IGL02671:Mcam	APN	9	44,137,034 (GRCm38)	splice site	probably benign
IGL02682:Mcam	APN	9	44,140,417 (GRCm38)	missense	possibly damaging	0.80
IGL03384:Mcam	APN	9	44,140,512 (GRCm38)	unclassified	probably benign
R0238:Mcam	UTSW	9	44,140,205 (GRCm38)	splice site	probably null
R0238:Mcam	UTSW	9	44,140,205 (GRCm38)	splice site	probably null
R0320:Mcam	UTSW	9	44,140,186 (GRCm38)	missense	possibly damaging	0.89
R1432:Mcam	UTSW	9	44,141,291 (GRCm38)	missense	probably damaging	0.98
R1485:Mcam	UTSW	9	44,136,763 (GRCm38)	missense	probably damaging	1.00
R1503:Mcam	UTSW	9	44,141,291 (GRCm38)	missense	probably damaging	0.98
R1730:Mcam	UTSW	9	44,134,706 (GRCm38)	missense	probably damaging	1.00
R1783:Mcam	UTSW	9	44,134,706 (GRCm38)	missense	probably damaging	1.00
R2150:Mcam	UTSW	9	44,136,635 (GRCm38)	missense	probably damaging	0.99
R2215:Mcam	UTSW	9	44,139,953 (GRCm38)	nonsense	probably null
R4366:Mcam	UTSW	9	44,134,697 (GRCm38)	missense	probably damaging	1.00
R4519:Mcam	UTSW	9	44,141,343 (GRCm38)	missense	possibly damaging	0.95
R4948:Mcam	UTSW	9	44,136,566 (GRCm38)	missense	probably damaging	1.00
R5965:Mcam	UTSW	9	44,136,628 (GRCm38)	missense	probably damaging	1.00
R6704:Mcam	UTSW	9	44,136,920 (GRCm38)	missense	probably benign	0.06
R6955:Mcam	UTSW	9	44,139,269 (GRCm38)	missense	probably damaging	1.00
R7273:Mcam	UTSW	9	44,140,944 (GRCm38)	missense	possibly damaging	0.78
R7529:Mcam	UTSW	9	44,138,895 (GRCm38)	missense	probably benign	0.08
R7623:Mcam	UTSW	9	44,139,658 (GRCm38)	missense	probably benign	0.28
R7659:Mcam	UTSW	9	44,136,770 (GRCm38)	missense	unknown
R8066:Mcam	UTSW	9	44,140,960 (GRCm38)	missense	probably damaging	1.00
R9113:Mcam	UTSW	9	44,140,396 (GRCm38)	missense	probably benign	0.04
R9184:Mcam	UTSW	9	44,135,248 (GRCm38)	intron	probably benign
R9278:Mcam	UTSW	9	44,135,176 (GRCm38)	intron	probably benign
Z1177:Mcam	UTSW	9	44,134,590 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAAGTGGGACAGCTGCAG -3'
(R):5'- AAGGCGGTGCTCATATTCAC -3'

Sequencing Primer
(F):5'- TGGGACAGCTGCAGTGAACC -3'
(R):5'- ATATTCACCAGGTTCCCGCTGG -3'

Posted On

2014-10-01