Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Pecam1'

607199

Institutional Source

Beutler Lab

Gene Symbol

Pecam1

Ensembl Gene

ENSMUSG00000020717

Gene Name

platelet/endothelial cell adhesion molecule 1

Synonyms

Cd31, PECAM-1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106654217-106750628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106671750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 708 (V708A)

Ref Sequence

ENSEMBL: ENSMUSP00000079664 (fasta)

Gene Model

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

AlphaFold

Q08481

Predicted Effect

probably benign
Transcript: ENSMUST00000068021
AA Change: V708A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: V708A

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: V708A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: V708A

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

SMART Domains

Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717

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: V708A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: V708A

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: ENSMUST00000183610
AA Change: V607A

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

SMART Domains

Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: V607A

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: 99.7%
20x: 98.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly 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
R1495:Pecam1	UTSW	11	106688856	missense	probably damaging	0.96
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
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'- GGTGCTCAGAGATGTGCTTC -3'
(R):5'- GAACTTCTGAAGCTGGGGAATG -3'

Sequencing Primer
(F):5'- GGAAGTGATGTCCCACACCTTTAATC -3'
(R):5'- GCTGGGGAATGATGATATACTCG -3'

Posted On

2019-12-20