Mutagenetix > Incidental Mutation

Incidental Mutation 'R7623:Mcam'

589262

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

045718-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R7623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44045946-44054024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44050955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 346 (S346T)

Ref Sequence

ENSEMBL: ENSMUSP00000034650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034650] [ENSMUST00000098852] [ENSMUST00000147836] [ENSMUST00000149241] [ENSMUST00000206147] [ENSMUST00000206720] [ENSMUST00000216002]

AlphaFold

Q8R2Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000034650
AA Change: S346T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: S346T

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

possibly damaging
Transcript: ENSMUST00000098852
AA Change: S346T

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: S346T

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 benign
Transcript: ENSMUST00000147836

SMART Domains

Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135

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

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000206147

Predicted Effect

probably benign
Transcript: ENSMUST00000206720

Predicted Effect

probably benign
Transcript: ENSMUST00000216002

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	G	T	16: 21,513,092 (GRCm39)	L22M	probably damaging	Het
Abca9	T	C	11: 109,998,384 (GRCm39)	N1468S	probably benign	Het
Abcc5	C	T	16: 20,163,446 (GRCm39)	D1264N	possibly damaging	Het
Abhd10	A	G	16: 45,553,099 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,901,569 (GRCm39)	A570E	probably damaging	Het
Adgrb3	T	A	1: 25,586,629 (GRCm39)	S355C	probably damaging	Het
Adgrv1	A	G	13: 81,570,344 (GRCm39)	V4953A	possibly damaging	Het
Ano2	T	A	6: 125,992,536 (GRCm39)	Y836*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc8	T	A	7: 16,730,537 (GRCm39)	D675E	possibly damaging	Het
Ccnb2	A	G	9: 70,326,170 (GRCm39)	V58A	probably benign	Het
Cdcp3	T	A	7: 130,879,295 (GRCm39)		probably null	Het
Cdh24	A	T	14: 54,875,547 (GRCm39)	Y296N	probably damaging	Het
Cfap46	T	C	7: 139,198,266 (GRCm39)	E2054G	unknown	Het
Cnot1	A	T	8: 96,454,276 (GRCm39)	F2067I	probably damaging	Het
Csmd3	A	G	15: 47,813,334 (GRCm39)	F329S		Het
Dact3	C	A	7: 16,619,840 (GRCm39)	T445K	unknown	Het
Dph6	C	A	2: 114,485,379 (GRCm39)		probably benign	Het
Dst	T	A	1: 34,209,517 (GRCm39)	C1195S	probably damaging	Het
Eeig1	A	G	2: 32,456,346 (GRCm39)	D336G	possibly damaging	Het
Fat3	T	A	9: 15,899,620 (GRCm39)	N3138Y	probably damaging	Het
Fbxw25	T	C	9: 109,483,651 (GRCm39)	N187S		Het
Fuca1	A	G	4: 135,660,405 (GRCm39)	I308V	probably benign	Het
Galnt5	A	G	2: 57,907,222 (GRCm39)	R562G	probably damaging	Het
Gas8	G	T	8: 124,249,718 (GRCm39)	R44S	probably damaging	Het
Gja5	T	C	3: 96,958,071 (GRCm39)	S43P	possibly damaging	Het
Gm14403	A	G	2: 177,200,405 (GRCm39)	D117G	probably benign	Het
Gmpr2	G	A	14: 55,910,491 (GRCm39)	V58M	probably damaging	Het
Gtpbp6	T	A	5: 110,252,950 (GRCm39)	I301F	probably damaging	Het
H2bc22	T	A	13: 21,971,762 (GRCm39)	D26E	probably benign	Het
Hdhd5	T	C	6: 120,498,212 (GRCm39)	Y129C	probably damaging	Het
Hemgn	A	G	4: 46,396,504 (GRCm39)	M244T	probably benign	Het
Hoxa1	T	G	6: 52,135,238 (GRCm39)		probably null	Het
Iglc1	T	A	16: 18,880,551 (GRCm39)	H90L		Het
Lamb2	C	T	9: 108,366,423 (GRCm39)	S1545F	possibly damaging	Het
Mc4r	T	C	18: 66,992,580 (GRCm39)	T178A	probably benign	Het
Mis18bp1	A	G	12: 65,195,626 (GRCm39)	S713P	probably benign	Het
Mybl2	A	G	2: 162,914,752 (GRCm39)	Y290C	probably damaging	Het
Or4k44	T	C	2: 111,368,281 (GRCm39)	M118V	probably damaging	Het
Or7e168	A	T	9: 19,720,225 (GRCm39)	I204F	possibly damaging	Het
Pak6	A	G	2: 118,525,068 (GRCm39)	T565A	probably damaging	Het
Pde5a	A	G	3: 122,568,250 (GRCm39)	T284A	probably benign	Het
Pkd1l2	A	T	8: 117,756,384 (GRCm39)	F1616Y	probably damaging	Het
Pp2d1	T	C	17: 53,822,907 (GRCm39)	E53G	probably benign	Het
Ppp3cc	A	C	14: 70,478,394 (GRCm39)	S269R	probably benign	Het
Ptprb	A	C	10: 116,205,214 (GRCm39)	D1856A	possibly damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Rnf8	T	A	17: 29,847,980 (GRCm39)	V344E	probably benign	Het
Rpn1	T	C	6: 88,061,550 (GRCm39)	L13P	possibly damaging	Het
Rsbn1	A	T	3: 103,822,326 (GRCm39)	H187L	probably benign	Het
Sdr16c6	T	A	4: 4,058,801 (GRCm39)	I262F	not run	Het
Sec22a	A	G	16: 35,149,894 (GRCm39)	F211L	probably benign	Het
Slc16a4	G	A	3: 107,205,297 (GRCm39)	A42T	possibly damaging	Het
Smap1	T	A	1: 23,887,376 (GRCm39)	Q386L	probably benign	Het
Sos1	A	T	17: 80,787,323 (GRCm39)	F10L	probably benign	Het
Sptbn2	A	G	19: 4,776,196 (GRCm39)	T202A	probably damaging	Het
Stab1	C	A	14: 30,862,578 (GRCm39)	V2282L	probably benign	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tmprss11f	C	T	5: 86,672,019 (GRCm39)	G391D	probably damaging	Het
Tnfaip2	A	G	12: 111,412,072 (GRCm39)	S158G	probably damaging	Het
Trav6d-5	A	G	14: 53,032,843 (GRCm39)	T31A	probably benign	Het
Tst	G	A	15: 78,289,903 (GRCm39)	A44V	probably damaging	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het
Vwc2	T	C	11: 11,066,415 (GRCm39)	F168L	probably damaging	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp605	A	G	5: 110,275,386 (GRCm39)	Y168C	probably benign	Het
Zfp790	T	A	7: 29,525,130 (GRCm39)	Y49*	probably null	Het
Zfp93	T	C	7: 23,975,794 (GRCm39)	F593S	probably damaging	Het
Zfr	C	T	15: 12,160,614 (GRCm39)	T729I	possibly damaging	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
R1485:Mcam	UTSW	9	44,048,060 (GRCm39)	missense	probably damaging	1.00
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
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'- CGATGAAAATGGGCTCCTGTC -3'
(R):5'- GTCTGAAAAGGAGCAAGCTCTC -3'

Sequencing Primer
(F):5'- AAAATGGGCTCCTGTCCTTGG -3'
(R):5'- AGGAGCAAGCTCTCATTGTC -3'

Posted On

2019-10-24