Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Ppfibp1'

678761

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

PTPRF interacting protein, binding protein 1 (liprin beta 1)

Synonyms

MMRRC Submission

068702-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146789985-146933523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146923947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 725 (V725E)

Ref Sequence

ENSEMBL: ENSMUSP00000107250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000136837]

AlphaFold

Q8C8U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000016631
AA Change: V714E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: V714E

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	345	358	N/A	INTRINSIC
low complexity region	426	441	N/A	INTRINSIC
low complexity region	530	546	N/A	INTRINSIC
SAM	603	670	3.06e-13	SMART
SAM	675	741	2.39e-15	SMART
SAM	763	835	7.91e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111623
AA Change: V725E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: V725E

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	272	284	N/A	INTRINSIC
low complexity region	356	369	N/A	INTRINSIC
low complexity region	437	452	N/A	INTRINSIC
low complexity region	541	557	N/A	INTRINSIC
SAM	614	681	3.06e-13	SMART
SAM	686	752	2.39e-15	SMART
SAM	774	846	7.91e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136837

SMART Domains

Protein: ENSMUSP00000114340
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155415

SMART Domains

Protein: ENSMUSP00000121270
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	38	51	N/A	INTRINSIC
low complexity region	119	134	N/A	INTRINSIC
low complexity region	233	249	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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 a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		Het

Other mutations in Ppfibp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Ppfibp1	APN	6	146,931,195 (GRCm39)	missense	probably benign	0.07
IGL02644:Ppfibp1	APN	6	146,923,938 (GRCm39)	missense	probably damaging	1.00
IGL02711:Ppfibp1	APN	6	146,927,736 (GRCm39)	nonsense	probably null
IGL02737:Ppfibp1	APN	6	146,928,806 (GRCm39)	missense	probably damaging	1.00
IGL02745:Ppfibp1	APN	6	146,923,852 (GRCm39)	unclassified	probably benign
IGL03120:Ppfibp1	APN	6	146,899,667 (GRCm39)	missense	probably benign	0.00
IGL03300:Ppfibp1	APN	6	146,931,825 (GRCm39)	missense	probably damaging	1.00
R0114:Ppfibp1	UTSW	6	146,899,731 (GRCm39)	missense	probably benign	0.04
R0480:Ppfibp1	UTSW	6	146,920,529 (GRCm39)	splice site	probably null
R0699:Ppfibp1	UTSW	6	146,927,720 (GRCm39)	missense	probably damaging	0.99
R1515:Ppfibp1	UTSW	6	146,928,930 (GRCm39)	missense	probably benign
R1830:Ppfibp1	UTSW	6	146,923,757 (GRCm39)	critical splice donor site	probably null
R1858:Ppfibp1	UTSW	6	146,892,090 (GRCm39)	missense	probably benign	0.06
R2160:Ppfibp1	UTSW	6	146,928,951 (GRCm39)	missense	probably damaging	0.98
R2389:Ppfibp1	UTSW	6	146,923,669 (GRCm39)	missense	probably damaging	1.00
R2517:Ppfibp1	UTSW	6	146,893,942 (GRCm39)	missense	probably damaging	1.00
R3882:Ppfibp1	UTSW	6	146,899,719 (GRCm39)	missense	possibly damaging	0.67
R4035:Ppfibp1	UTSW	6	146,898,334 (GRCm39)	missense	probably damaging	0.99
R4202:Ppfibp1	UTSW	6	146,931,079 (GRCm39)	missense	probably damaging	1.00
R4205:Ppfibp1	UTSW	6	146,931,079 (GRCm39)	missense	probably damaging	1.00
R4420:Ppfibp1	UTSW	6	146,927,736 (GRCm39)	nonsense	probably null
R4860:Ppfibp1	UTSW	6	146,892,012 (GRCm39)	missense	probably benign	0.01
R4860:Ppfibp1	UTSW	6	146,892,012 (GRCm39)	missense	probably benign	0.01
R4974:Ppfibp1	UTSW	6	146,931,917 (GRCm39)	utr 3 prime	probably benign
R5163:Ppfibp1	UTSW	6	146,923,629 (GRCm39)	splice site	probably null
R5180:Ppfibp1	UTSW	6	146,928,819 (GRCm39)	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	146,917,828 (GRCm39)	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	146,898,338 (GRCm39)	missense	probably damaging	1.00
R5458:Ppfibp1	UTSW	6	146,913,933 (GRCm39)	intron	probably benign
R5479:Ppfibp1	UTSW	6	146,931,648 (GRCm39)	critical splice donor site	probably null
R5631:Ppfibp1	UTSW	6	146,898,358 (GRCm39)	missense	probably damaging	1.00
R6277:Ppfibp1	UTSW	6	146,907,422 (GRCm39)	missense	probably benign	0.01
R6577:Ppfibp1	UTSW	6	146,901,153 (GRCm39)	splice site	probably null
R6602:Ppfibp1	UTSW	6	146,879,719 (GRCm39)	missense	possibly damaging	0.62
R7320:Ppfibp1	UTSW	6	146,879,551 (GRCm39)	missense	probably damaging	1.00
R7440:Ppfibp1	UTSW	6	146,921,001 (GRCm39)	missense	probably benign	0.01
R7455:Ppfibp1	UTSW	6	146,917,848 (GRCm39)	missense	probably damaging	1.00
R7710:Ppfibp1	UTSW	6	146,897,903 (GRCm39)	missense	probably benign	0.00
R8379:Ppfibp1	UTSW	6	146,931,843 (GRCm39)	missense	probably damaging	1.00
R8439:Ppfibp1	UTSW	6	146,902,448 (GRCm39)	missense	possibly damaging	0.94
R8692:Ppfibp1	UTSW	6	146,892,013 (GRCm39)	missense	probably benign	0.00
R8926:Ppfibp1	UTSW	6	146,920,986 (GRCm39)	missense	probably damaging	1.00
R8943:Ppfibp1	UTSW	6	146,920,681 (GRCm39)	critical splice donor site	probably null
R9166:Ppfibp1	UTSW	6	146,920,980 (GRCm39)	missense	probably damaging	1.00
R9372:Ppfibp1	UTSW	6	146,898,307 (GRCm39)	missense	probably damaging	1.00
R9800:Ppfibp1	UTSW	6	146,917,769 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTAGACTTCAACTGGGTTAC -3'
(R):5'- TTCTGTGACAGAACTCACACAC -3'

Sequencing Primer
(F):5'- CTTCAACTGGGTTACTAGTAAGAGGC -3'
(R):5'- CCATAAAAACGCAAACATCCACGTG -3'

Posted On

2021-08-02