Mutagenetix > Incidental Mutation

Incidental Mutation 'R7078:Pecam1'

549365

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

PECAM-1, Cd31

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106545039-106606107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106579773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 430 (T430S)

Ref Sequence

ENSEMBL: ENSMUSP00000099358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068021] [ENSMUST00000080853] [ENSMUST00000103069] [ENSMUST00000106796] [ENSMUST00000124958] [ENSMUST00000183610]

AlphaFold

Q08481

Predicted Effect

probably benign
Transcript: ENSMUST00000068021
AA Change: T430S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: T430S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	32	118	3.54e-4	SMART
Pfam:Ig_3	122	198	4.2e-4	PFAM
IG_like	230	311	1.38e2	SMART
IG_like	327	382	2e-1	SMART
Blast:IG_like	405	486	3e-31	BLAST
IG	497	584	5.49e-1	SMART
transmembrane domain	592	614	N/A	INTRINSIC
PDB:2KY5\|A	676	718	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080853
AA Change: T430S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: T430S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	32	118	3.54e-4	SMART
IG_like	230	311	1.38e2	SMART
IG_like	327	382	2e-1	SMART
Blast:IG_like	405	486	3e-31	BLAST
IG	497	584	5.49e-1	SMART
transmembrane domain	592	614	N/A	INTRINSIC
PDB:2KY5\|A	676	710	4e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000103069
AA Change: T430S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: T430S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	32	118	3.54e-4	SMART
IG_like	230	311	1.38e2	SMART
IG_like	327	382	2e-1	SMART
Blast:IG_like	405	486	3e-31	BLAST
IG	497	584	5.49e-1	SMART
transmembrane domain	592	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106796
AA Change: T430S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: T430S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	32	118	3.54e-4	SMART
IG_like	230	311	1.38e2	SMART
IG_like	327	382	2e-1	SMART
Blast:IG_like	405	486	3e-31	BLAST
IG	497	584	5.49e-1	SMART
transmembrane domain	592	614	N/A	INTRINSIC
PDB:2KY5\|A	676	727	1e-16	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000124958

SMART Domains

Protein: ENSMUSP00000122414
Gene: ENSMUSG00000020717

Domain	Start	End	E-Value	Type
IG	4	90	1.5e-6	SMART
Pfam:Ig_2	94	191	2.9e-1	PFAM
IG_like	202	283	5.7e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183610
AA Change: T329S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: T329S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	32	118	3.54e-4	SMART
IG_like	129	210	1.38e2	SMART
IG_like	226	281	2e-1	SMART
Blast:IG_like	304	385	2e-31	BLAST
IG	396	483	5.49e-1	SMART
transmembrane domain	491	513	N/A	INTRINSIC
PDB:2KY5\|A	575	626	1e-16	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show increased susceptibility to collagen-induced arthritis, impaired lung alveolarization, and enhanced susceptibility to endotoxic shock. Mice homozygous for a gene-trapped allele show altered vasodilation and nitric oxide homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,154,138 (GRCm39)	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,579,434 (GRCm39)	H20L	probably benign	Het
Ankrd52	T	A	10: 128,219,526 (GRCm39)	C487S	probably benign	Het
Ap1s3	T	C	1: 79,602,845 (GRCm39)	E54G	probably benign	Het
Arglu1	A	C	8: 8,717,361 (GRCm39)	M236R	probably benign	Het
Baz1b	T	A	5: 135,246,293 (GRCm39)	F581I	probably benign	Het
Bbox1	T	G	2: 110,122,884 (GRCm39)	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,400,786 (GRCm39)	V69E	probably damaging	Het
Brinp3	C	T	1: 146,390,627 (GRCm39)	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 51,029,724 (GRCm39)	K113*	probably null	Het
Cep128	T	C	12: 91,200,878 (GRCm39)	I830M	probably damaging	Het
Ces2f	C	T	8: 105,681,284 (GRCm39)	T541I	probably damaging	Het
Chsy3	C	A	18: 59,309,149 (GRCm39)	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,328,271 (GRCm39)	T112P	probably damaging	Het
Cplane2	A	T	4: 140,947,159 (GRCm39)	Y180F	probably benign	Het
Dcc	T	A	18: 71,680,469 (GRCm39)	K589I	probably benign	Het
Depdc1b	T	A	13: 108,523,505 (GRCm39)	I460K	possibly damaging	Het
Dlst	T	C	12: 85,157,705 (GRCm39)	F12S	probably benign	Het
Dnah1	G	C	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,798,480 (GRCm39)	Q438R	possibly damaging	Het
Dusp4	C	A	8: 35,275,065 (GRCm39)	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688 (GRCm39)	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,661,407 (GRCm39)	S512P	probably benign	Het
Elapor2	A	G	5: 9,460,709 (GRCm39)	N210S	probably benign	Het
Eya1	C	T	1: 14,301,636 (GRCm39)		probably null	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fzr1	T	A	10: 81,204,463 (GRCm39)	D379V	probably damaging	Het
Gk2	T	A	5: 97,604,195 (GRCm39)	E214D	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gmnc	A	T	16: 26,779,272 (GRCm39)	V251E	probably benign	Het
Golga3	A	G	5: 110,340,953 (GRCm39)	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,736,204 (GRCm39)	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,244,914 (GRCm39)	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,674,937 (GRCm39)	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,229,583 (GRCm39)	V29A	probably damaging	Het
Hecw1	A	T	13: 14,609,044 (GRCm39)	M1K	probably null	Het
Hmcn1	T	C	1: 150,736,118 (GRCm39)	D117G	probably damaging	Het
Ifnab	T	A	4: 88,609,350 (GRCm39)	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,904,566 (GRCm39)	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,288,437 (GRCm39)	P103L	probably damaging	Het
Macf1	T	G	4: 123,325,936 (GRCm39)	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,453,151 (GRCm39)	E348G	probably damaging	Het
Med25	G	T	7: 44,534,325 (GRCm39)	A280D	probably damaging	Het
Mep1b	C	A	18: 21,233,108 (GRCm39)	A703E	probably benign	Het
Morn5	T	A	2: 35,944,990 (GRCm39)	N71K	probably benign	Het
Mtmr10	T	A	7: 63,970,375 (GRCm39)	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756 (GRCm39)	V302L	probably benign	Het
Notch4	A	G	17: 34,801,520 (GRCm39)	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,816,452 (GRCm39)	M88K	possibly damaging	Het
Or12k8	A	G	2: 36,975,608 (GRCm39)	S51P	possibly damaging	Het
Or5b100-ps1	A	T	19: 12,994,097 (GRCm39)	D170V	possibly damaging	Het
Or6d12	T	A	6: 116,493,632 (GRCm39)	L298Q	probably damaging	Het
Or8g4	A	T	9: 39,661,787 (GRCm39)	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,953 (GRCm39)	N694S	probably benign	Het
Plaa	T	G	4: 94,462,288 (GRCm39)	T530P	probably benign	Het
Ppfia3	G	T	7: 45,010,019 (GRCm39)	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,843,274 (GRCm39)	S331P	probably benign	Het
Prg4	T	C	1: 150,334,014 (GRCm39)	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,103,531 (GRCm39)	D1003V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rasef	T	C	4: 73,698,626 (GRCm39)	I12V	probably benign	Het
Robo2	T	G	16: 74,149,504 (GRCm39)	Y108S	probably damaging	Het
Rp1	T	A	1: 4,277,014 (GRCm39)	E762V	unknown	Het
Rsrc1	T	C	3: 66,901,987 (GRCm39)	S46P	unknown	Het
Rttn	A	T	18: 89,027,546 (GRCm39)	T554S	probably benign	Het
Sall3	C	T	18: 81,017,314 (GRCm39)	V205M	probably damaging	Het
Scn3a	C	A	2: 65,327,944 (GRCm39)	V849L	probably damaging	Het
Sec23a	A	G	12: 59,039,069 (GRCm39)	C277R	probably benign	Het
Sf3b3	C	T	8: 111,539,639 (GRCm39)	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,309,366 (GRCm39)	D113G	unknown	Het
Slc22a22	C	T	15: 57,126,876 (GRCm39)	M64I	probably benign	Het
Slc5a11	C	T	7: 122,857,669 (GRCm39)	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,798,067 (GRCm39)	F449S	probably damaging	Het
Sspo	C	T	6: 48,437,313 (GRCm39)	T1357M	probably damaging	Het
Styx	C	T	14: 45,609,873 (GRCm39)	T179I	probably benign	Het
Syt7	A	T	19: 10,412,963 (GRCm39)	T297S	probably benign	Het
Tbx19	T	A	1: 164,988,135 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,545,392 (GRCm39)	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,299,238 (GRCm39)	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem219	T	A	7: 126,490,975 (GRCm39)	T161S	probably damaging	Het
Tox2	T	A	2: 163,162,501 (GRCm39)	L68H		Het
Trim5	T	A	7: 103,927,681 (GRCm39)	D153V	possibly damaging	Het
Ttn	T	C	2: 76,580,651 (GRCm39)	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,582,153 (GRCm39)	N22913K	probably damaging	Het
Ubr2	A	C	17: 47,266,779 (GRCm39)	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 85,815,568 (GRCm39)	S99P	probably damaging	Het
Wdr83	T	C	8: 85,802,680 (GRCm39)	D219G	probably damaging	Het
Wdr90	C	T	17: 26,068,623 (GRCm39)	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,351,581 (GRCm39)	L62F	probably damaging	Het

Other mutations in Pecam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Pecam1	APN	11	106,590,624 (GRCm39)	missense	probably damaging	1.00
IGL01914:Pecam1	APN	11	106,590,693 (GRCm39)	missense	possibly damaging	0.95
IGL02035:Pecam1	APN	11	106,586,685 (GRCm39)	missense	probably benign	0.43
IGL02124:Pecam1	APN	11	106,581,807 (GRCm39)	missense	probably damaging	0.98
IGL02487:Pecam1	APN	11	106,562,606 (GRCm39)	missense	probably damaging	1.00
IGL02576:Pecam1	APN	11	106,562,600 (GRCm39)	missense	probably damaging	1.00
IGL03101:Pecam1	APN	11	106,588,177 (GRCm39)	missense	probably damaging	0.99
R1495:Pecam1	UTSW	11	106,579,682 (GRCm39)	missense	probably damaging	0.96
R1614:Pecam1	UTSW	11	106,571,905 (GRCm39)	missense	probably benign	0.00
R1628:Pecam1	UTSW	11	106,573,786 (GRCm39)	splice site	probably null
R1950:Pecam1	UTSW	11	106,576,029 (GRCm39)	missense	probably damaging	1.00
R1994:Pecam1	UTSW	11	106,586,763 (GRCm39)	missense	possibly damaging	0.95
R3149:Pecam1	UTSW	11	106,575,107 (GRCm39)	missense	possibly damaging	0.53
R4022:Pecam1	UTSW	11	106,545,986 (GRCm39)	missense	probably benign	0.00
R4418:Pecam1	UTSW	11	106,586,748 (GRCm39)	missense	possibly damaging	0.61
R4747:Pecam1	UTSW	11	106,575,072 (GRCm39)	missense	probably benign	0.29
R4828:Pecam1	UTSW	11	106,590,634 (GRCm39)	missense	probably damaging	1.00
R5798:Pecam1	UTSW	11	106,586,658 (GRCm39)	missense	possibly damaging	0.95
R5864:Pecam1	UTSW	11	106,575,076 (GRCm39)	nonsense	probably null
R5942:Pecam1	UTSW	11	106,552,809 (GRCm39)	intron	probably benign
R5966:Pecam1	UTSW	11	106,581,887 (GRCm39)	missense	probably benign	0.44
R6285:Pecam1	UTSW	11	106,576,065 (GRCm39)	missense	probably benign	0.02
R6519:Pecam1	UTSW	11	106,590,468 (GRCm39)	missense	probably benign	0.01
R7135:Pecam1	UTSW	11	106,579,857 (GRCm39)	missense	probably damaging	0.99
R7215:Pecam1	UTSW	11	106,586,745 (GRCm39)	missense	probably benign	0.15
R7574:Pecam1	UTSW	11	106,590,610 (GRCm39)	missense	probably damaging	1.00
R7795:Pecam1	UTSW	11	106,586,658 (GRCm39)	nonsense	probably null
R7855:Pecam1	UTSW	11	106,562,576 (GRCm39)	missense	probably benign	0.00
R8296:Pecam1	UTSW	11	106,579,745 (GRCm39)	missense	probably benign	0.01
R9058:Pecam1	UTSW	11	106,590,675 (GRCm39)	missense	probably damaging	1.00
R9109:Pecam1	UTSW	11	106,586,587 (GRCm39)	missense	probably damaging	1.00
R9215:Pecam1	UTSW	11	106,579,797 (GRCm39)	missense	probably damaging	1.00
R9371:Pecam1	UTSW	11	106,581,947 (GRCm39)	missense	probably benign	0.10
R9567:Pecam1	UTSW	11	106,588,121 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGCTTCACAGAAGACAGCTGC -3'
(R):5'- ATGATCTCGATTGGGAAAGCC -3'

Sequencing Primer
(F):5'- AGAAGACAGCTGCTTACCTATC -3'
(R):5'- GCCAAGCTCAGAGTTTTCAG -3'

Posted On

2019-05-15