Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Pecam1'

357215

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

PECAM-1, Cd31

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106545039-106606107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106575072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 613 (F613I)

Ref Sequence

ENSEMBL: ENSMUSP00000102408 (fasta)

Gene Model

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

AlphaFold

Q08481

Predicted Effect

probably benign
Transcript: ENSMUST00000068021
AA Change: F613I

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: F613I

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: F613I

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: F613I

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: F613I

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: F613I

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: F613I

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: F613I

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

noncoding transcript
Transcript: ENSMUST00000135481

Predicted Effect

probably benign
Transcript: ENSMUST00000183610
AA Change: F512I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: F512I

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	probably benign	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
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
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

PCR Primer
(F):5'- GGTATAATGTCACCCACATCCC -3'
(R):5'- ATCGCAAAATGGGGTCTGAG -3'

Sequencing Primer
(F):5'- GGCTTGCCCAACTCCAC -3'
(R):5'- CTGAGTTGCTGCTTAAATCTGC -3'

Posted On

2015-11-11