Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Pecam1'

168800

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

Cd31, PECAM-1

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106654217-106750628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106688856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

Ref Sequence

ENSEMBL: ENSMUSP00000102408 (fasta)

Gene Model

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

AlphaFold

Q08481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068021
AA Change: D460G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: D460G

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: D460G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: D460G

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: D460G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: D460G

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: D460G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: D460G

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

possibly damaging
Transcript: ENSMUST00000183610
AA Change: D359G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: D359G

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	probably damaging	Het

Other mutations in Pecam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Pecam1	APN	11	106699798	missense	probably damaging	1.00
IGL01914:Pecam1	APN	11	106699867	missense	possibly damaging	0.95
IGL02035:Pecam1	APN	11	106695859	missense	probably benign	0.43
IGL02124:Pecam1	APN	11	106690981	missense	probably damaging	0.98
IGL02487:Pecam1	APN	11	106671780	missense	probably damaging	1.00
IGL02576:Pecam1	APN	11	106671774	missense	probably damaging	1.00
IGL03101:Pecam1	APN	11	106697351	missense	probably damaging	0.99
R1614:Pecam1	UTSW	11	106681079	missense	probably benign	0.00
R1628:Pecam1	UTSW	11	106682960	splice site	probably null
R1950:Pecam1	UTSW	11	106685203	missense	probably damaging	1.00
R1994:Pecam1	UTSW	11	106695937	missense	possibly damaging	0.95
R3149:Pecam1	UTSW	11	106684281	missense	possibly damaging	0.53
R4022:Pecam1	UTSW	11	106655160	missense	probably benign	0.00
R4418:Pecam1	UTSW	11	106695922	missense	possibly damaging	0.61
R4747:Pecam1	UTSW	11	106684246	missense	probably benign	0.29
R4828:Pecam1	UTSW	11	106699808	missense	probably damaging	1.00
R5798:Pecam1	UTSW	11	106695832	missense	possibly damaging	0.95
R5864:Pecam1	UTSW	11	106684250	nonsense	probably null
R5942:Pecam1	UTSW	11	106661983	intron	probably benign
R5966:Pecam1	UTSW	11	106691061	missense	probably benign	0.44
R6285:Pecam1	UTSW	11	106685239	missense	probably benign	0.02
R6519:Pecam1	UTSW	11	106699642	missense	probably benign	0.01
R7078:Pecam1	UTSW	11	106688947	missense	probably benign	0.06
R7135:Pecam1	UTSW	11	106689031	missense	probably damaging	0.99
R7215:Pecam1	UTSW	11	106695919	missense	probably benign	0.15
R7574:Pecam1	UTSW	11	106699784	missense	probably damaging	1.00
R7795:Pecam1	UTSW	11	106695832	nonsense	probably null
R7855:Pecam1	UTSW	11	106671750	missense	probably benign	0.00
R8296:Pecam1	UTSW	11	106688919	missense	probably benign	0.01
R9058:Pecam1	UTSW	11	106699849	missense	probably damaging	1.00
R9109:Pecam1	UTSW	11	106695761	missense	probably damaging	1.00
R9215:Pecam1	UTSW	11	106688971	missense	probably damaging	1.00
R9371:Pecam1	UTSW	11	106691121	missense	probably benign	0.10
R9567:Pecam1	UTSW	11	106697295	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CGGATATTGCTCAGACCCACCATC -3'
(R):5'- TGTTGTAGAAATGCTCTCGAAGCCC -3'

Sequencing Primer
(F):5'- ACATATCTGCTATGGGTTGCAC -3'
(R):5'- CTCGAAGCCCAGTATTTTTCATGATG -3'

Posted On

2014-04-13