Mutagenetix > Incidental Mutation

Incidental Mutation 'R5966:Pecam1'

472114

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

PECAM-1, Cd31

MMRRC Submission

044151-MU

Accession Numbers

Essential gene?

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

Stock #

R5966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106545039-106606107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106581887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 252 (T252M)

Ref Sequence

ENSEMBL: ENSMUSP00000138959 (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: T353M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: T353M

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: T353M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: T353M

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: T353M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: T353M

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: T353M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: T353M

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

noncoding transcript
Transcript: ENSMUST00000135481

Predicted Effect

probably benign
Transcript: ENSMUST00000183610
AA Change: T252M

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: T252M

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

94% (79/84)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	T	10: 115,415,717 (GRCm39)		probably benign	Het
Acaa2	T	C	18: 74,937,223 (GRCm39)	L369S	probably damaging	Het
Akna	A	G	4: 63,313,140 (GRCm39)	S328P	probably damaging	Het
Albfm1	A	G	5: 90,719,546 (GRCm39)	Y214C	probably damaging	Het
Apc	A	G	18: 34,354,140 (GRCm39)		probably benign	Het
Brca2	C	T	5: 150,466,716 (GRCm39)	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,204,330 (GRCm39)	S1251P	probably damaging	Het
Ccdc110	A	G	8: 46,395,573 (GRCm39)	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,797,908 (GRCm39)	I411F	probably damaging	Het
Cd163	C	T	6: 124,297,595 (GRCm39)	Q914*	probably null	Het
Cd22	T	C	7: 30,566,083 (GRCm39)	D827G	probably damaging	Het
Ces1e	A	G	8: 93,946,001 (GRCm39)		probably null	Het
Col14a1	T	C	15: 55,315,779 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,713,135 (GRCm39)	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,804,717 (GRCm39)	D543G	probably damaging	Het
Diaph3	T	A	14: 87,222,261 (GRCm39)	I408F	probably damaging	Het
Dld	G	A	12: 31,390,325 (GRCm39)	P213L	probably damaging	Het
Dnah6	T	C	6: 73,037,262 (GRCm39)	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,078,817 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,546,225 (GRCm39)	E791G	possibly damaging	Het
Ehd3	G	T	17: 74,134,356 (GRCm39)	W238C	probably damaging	Het
Ehd3	T	G	17: 74,134,361 (GRCm39)	L240R	probably damaging	Het
Ep400	A	G	5: 110,824,766 (GRCm39)	V2357A	unknown	Het
Fam20c	T	C	5: 138,741,932 (GRCm39)	V181A	probably damaging	Het
Gm4781	T	C	10: 100,232,814 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,058 (GRCm39)	S827T	unknown	Het
Grm3	A	T	5: 9,561,930 (GRCm39)	I640N	probably damaging	Het
Gstm7	A	G	3: 107,838,747 (GRCm39)		probably benign	Het
Hdac7	G	T	15: 97,700,372 (GRCm39)	H572Q	probably damaging	Het
Ift140	C	T	17: 25,313,735 (GRCm39)	Q1389*	probably null	Het
Igfn1	A	G	1: 135,893,152 (GRCm39)	V2099A	probably damaging	Het
Ik	A	G	18: 36,888,531 (GRCm39)	N443S	possibly damaging	Het
Impact	A	G	18: 13,123,601 (GRCm39)	K315E	probably benign	Het
Insr	C	A	8: 3,308,697 (GRCm39)	R113L	probably benign	Het
Jak2	T	A	19: 29,260,954 (GRCm39)	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,122,411 (GRCm39)	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,207,762 (GRCm39)	V319A	unknown	Het
Lepr	T	C	4: 101,649,324 (GRCm39)		probably benign	Het
Lmo7	C	T	14: 102,137,938 (GRCm39)	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,405,854 (GRCm39)	R147Q	probably benign	Het
Mtr	T	C	13: 12,230,453 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,652 (GRCm39)		probably benign	Het
Nrip1	G	A	16: 76,090,471 (GRCm39)	T362M	possibly damaging	Het
Or1j17	G	T	2: 36,578,074 (GRCm39)	R20L	probably null	Het
Or1q1	T	C	2: 36,886,957 (GRCm39)	I45T	possibly damaging	Het
Or5d45	A	G	2: 88,153,222 (GRCm39)	S276P	probably benign	Het
Ovol1	G	A	19: 5,601,630 (GRCm39)	R131C	probably damaging	Het
Pcca	T	C	14: 122,905,998 (GRCm39)	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,581,295 (GRCm39)	M134L	probably benign	Het
Rnd3	T	A	2: 51,022,536 (GRCm39)	I169F	probably damaging	Het
Rnmt	T	A	18: 68,444,689 (GRCm39)	D219E	probably benign	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Ryr2	G	T	13: 11,677,124 (GRCm39)	C3242*	probably null	Het
Smurf2	G	T	11: 106,766,727 (GRCm39)	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,873 (GRCm39)	I1333T	probably damaging	Het
Stard9	G	A	2: 120,527,580 (GRCm39)	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,704,753 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,929,636 (GRCm39)	D301V	probably benign	Het
Tbcd	G	T	11: 121,492,737 (GRCm39)		probably benign	Het
Tlr11	T	C	14: 50,599,712 (GRCm39)	I566T	probably benign	Het
Tm9sf2	T	A	14: 122,374,921 (GRCm39)		probably benign	Het
Tnfaip8l1	T	C	17: 56,478,799 (GRCm39)	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,887,433 (GRCm39)	C118S	probably damaging	Het
Ttc13	A	G	8: 125,408,959 (GRCm39)		probably benign	Het
Ubqln3	A	T	7: 103,790,906 (GRCm39)	S395T	probably benign	Het
Urb2	A	G	8: 124,754,827 (GRCm39)	D178G	probably benign	Het
Usf3	A	G	16: 44,041,222 (GRCm39)	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,402,112 (GRCm39)	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wfikkn2	C	T	11: 94,129,688 (GRCm39)	R151H	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
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
R7078:Pecam1	UTSW	11	106,579,773 (GRCm39)	missense	probably benign	0.06
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

Posted On

2017-03-31