Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Plxdc1'

589773

Institutional Source

Beutler Lab

Gene Symbol

Plxdc1

Ensembl Gene

ENSMUSG00000017417

Gene Name

plexin domain containing 1

Synonyms

2410003I07Rik, Tem7

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97923238-97986444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97956151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 147 (F147L)

Ref Sequence

ENSEMBL: ENSMUSP00000103191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]

AlphaFold

Q91ZV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017561
AA Change: F140L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: F140L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PSI	304	349	5.98e-2	SMART
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107565
AA Change: F147L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: F147L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PSI	311	356	5.98e-2	SMART
transmembrane domain	432	454	N/A	INTRINSIC

Meta Mutation Damage Score

0.6693

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478 (GRCm38)	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995 (GRCm38)	R92S	unknown	Het
Acaca	A	G	11: 84,372,639 (GRCm38)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584 (GRCm38)	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118 (GRCm38)	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399 (GRCm38)		probably null	Het
C530008M17Rik	A	G	5: 76,857,520 (GRCm38)	E576G	unknown	Het
Cd46	A	T	1: 195,083,619 (GRCm38)	M146K	probably null	Het
Chp1	A	G	2: 119,560,745 (GRCm38)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873 (GRCm38)	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112 (GRCm38)	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453 (GRCm38)	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910 (GRCm38)	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698 (GRCm38)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780 (GRCm38)	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534 (GRCm38)	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908 (GRCm38)	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680 (GRCm38)	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840 (GRCm38)	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652 (GRCm38)	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302 (GRCm38)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662 (GRCm38)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399 (GRCm38)		probably benign	Het
Ikbkb	T	C	8: 22,671,741 (GRCm38)	N377S	probably benign	Het
Intu	G	A	3: 40,654,253 (GRCm38)	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065 (GRCm38)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583 (GRCm38)	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622 (GRCm38)	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453 (GRCm38)	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622 (GRCm38)	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086 (GRCm38)	I301T	probably damaging	Het
Ppfia1	T	C	7: 144,552,436 (GRCm38)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654 (GRCm38)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629 (GRCm38)	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477 (GRCm38)		probably null	Het
Skint7	T	A	4: 111,984,140 (GRCm38)	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042 (GRCm38)		probably null	Het
Slco1a6	A	T	6: 142,145,755 (GRCm38)	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673 (GRCm38)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067 (GRCm38)		probably benign	Het
Spock2	G	A	10: 60,126,180 (GRCm38)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838 (GRCm38)	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099 (GRCm38)	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428 (GRCm38)	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220 (GRCm38)	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926 (GRCm38)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006 (GRCm38)		probably null	Het
Tyw5	A	T	1: 57,393,485 (GRCm38)	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147 (GRCm38)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962 (GRCm38)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023 (GRCm38)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089 (GRCm38)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996 (GRCm38)	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824 (GRCm38)	F240L	possibly damaging	Het

Other mutations in Plxdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01896:Plxdc1	APN	11	97,924,582 (GRCm38)	missense	probably damaging	0.98
IGL02490:Plxdc1	APN	11	97,954,778 (GRCm38)	missense	probably benign	0.17
IGL02568:Plxdc1	APN	11	97,978,564 (GRCm38)	missense	probably damaging	1.00
IGL02618:Plxdc1	APN	11	97,932,304 (GRCm38)	missense	probably benign
IGL03169:Plxdc1	APN	11	97,932,320 (GRCm38)	missense	possibly damaging	0.80
R0200:Plxdc1	UTSW	11	97,934,012 (GRCm38)	missense	probably damaging	1.00
R0627:Plxdc1	UTSW	11	97,932,204 (GRCm38)	splice site	probably null
R1510:Plxdc1	UTSW	11	97,932,324 (GRCm38)	missense	probably damaging	1.00
R2144:Plxdc1	UTSW	11	97,934,012 (GRCm38)	missense	probably damaging	1.00
R5334:Plxdc1	UTSW	11	97,956,105 (GRCm38)	missense	possibly damaging	0.87
R6084:Plxdc1	UTSW	11	97,928,463 (GRCm38)	missense	probably damaging	1.00
R6243:Plxdc1	UTSW	11	97,955,473 (GRCm38)	missense	probably damaging	1.00
R6305:Plxdc1	UTSW	11	97,938,590 (GRCm38)	missense	probably damaging	1.00
R7224:Plxdc1	UTSW	11	97,932,327 (GRCm38)	missense	possibly damaging	0.88
R7574:Plxdc1	UTSW	11	97,956,490 (GRCm38)	missense	possibly damaging	0.89
R7909:Plxdc1	UTSW	11	97,932,304 (GRCm38)	missense	probably benign
R8056:Plxdc1	UTSW	11	97,978,517 (GRCm38)	missense	probably damaging	0.99
R8536:Plxdc1	UTSW	11	97,978,696 (GRCm38)	splice site	probably null
R8754:Plxdc1	UTSW	11	97,955,511 (GRCm38)	missense	possibly damaging	0.80
R8796:Plxdc1	UTSW	11	97,956,581 (GRCm38)	missense	probably benign	0.02
R9189:Plxdc1	UTSW	11	97,953,962 (GRCm38)	missense	probably benign
R9450:Plxdc1	UTSW	11	97,954,855 (GRCm38)	missense	probably damaging	0.98
R9583:Plxdc1	UTSW	11	97,934,018 (GRCm38)	missense	probably damaging	1.00
RF007:Plxdc1	UTSW	11	97,978,678 (GRCm38)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GAACTCATGCTCAGAGTCCC -3'
(R):5'- TTCAGTCAGAGGAAGCTCAGTG -3'

Sequencing Primer
(F):5'- GCAATTGAGACAGTCCCTGAGTTC -3'
(R):5'- CAGAGGAAGCTCAGTGGGGTAC -3'

Posted On

2019-10-24