Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Pecam1'

553018

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

PECAM-1, Cd31

MMRRC Submission

045247-MU

Accession Numbers

Essential gene?

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

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106545039-106606107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106579857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 402 (I402V)

Ref Sequence

ENSEMBL: ENSMUSP00000099358 (fasta)

Gene Model

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

AlphaFold

Q08481

Predicted Effect

probably damaging
Transcript: ENSMUST00000068021
AA Change: I402V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: I402V

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 damaging
Transcript: ENSMUST00000080853
AA Change: I402V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: I402V

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 damaging
Transcript: ENSMUST00000103069
AA Change: I402V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: I402V

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 damaging
Transcript: ENSMUST00000106796
AA Change: I402V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: I402V

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 damaging
Transcript: ENSMUST00000183610
AA Change: I301V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: I301V

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

Meta Mutation Damage Score

0.5769

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Msr1	A	T	8: 40,042,465 (GRCm39)	V370E	possibly damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	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
R7078:Pecam1	UTSW	11	106,579,773 (GRCm39)	missense	probably benign	0.06
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'- GCTCTGCACTGGTATTCCATG -3'
(R):5'- AGACAAGCATTGCCTGGAC -3'

Sequencing Primer
(F):5'- GCACTGGTATTCCATGTCTCTGG -3'
(R):5'- GCCACAGCCCTATAGGAGC -3'

Posted On

2019-05-15