Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Ppfibp2'

696474

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp2

Ensembl Gene

ENSMUSG00000036528

Gene Name

PTPRF interacting protein, binding protein 2 (liprin beta 2)

Synonyms

Cclp1, liprin beta 2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107595207-107748583 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 107738318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 609 (L609*)

Ref Sequence

ENSEMBL: ENSMUSP00000095738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134] [ENSMUST00000208159]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040056
AA Change: L620*

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: L620*

Domain	Start	End	E-Value	Type
Pfam:Integrase_DNA	192	256	3.4e-24	PFAM
low complexity region	357	374	N/A	INTRINSIC
SAM	561	628	1.86e-12	SMART
SAM	633	699	4.07e-9	SMART
SAM	721	793	9.22e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098134
AA Change: L609*

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: L609*

Domain	Start	End	E-Value	Type
PDB:3QH9\|A	185	265	2e-26	PDB
low complexity region	357	374	N/A	INTRINSIC
SAM	550	617	1.86e-12	SMART
SAM	622	688	4.07e-9	SMART
SAM	710	782	9.22e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208159

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	Het

Other mutations in Ppfibp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ppfibp2	APN	7	107708805	missense	probably damaging	1.00
IGL00429:Ppfibp2	APN	7	107697594	missense	probably benign	0.18
IGL00785:Ppfibp2	APN	7	107737887	missense	probably benign
IGL00821:Ppfibp2	APN	7	107729876	missense	probably damaging	1.00
IGL01295:Ppfibp2	APN	7	107747539	unclassified	probably benign
IGL01361:Ppfibp2	APN	7	107744301	splice site	probably null
IGL02115:Ppfibp2	APN	7	107739318	unclassified	probably benign
IGL02323:Ppfibp2	APN	7	107738629	missense	probably damaging	1.00
IGL02458:Ppfibp2	APN	7	107742964	missense	probably damaging	1.00
IGL02731:Ppfibp2	APN	7	107746422	missense	possibly damaging	0.92
IGL03343:Ppfibp2	APN	7	107737919	nonsense	probably null
R0142:Ppfibp2	UTSW	7	107744177	missense	probably damaging	1.00
R0555:Ppfibp2	UTSW	7	107729174	missense	probably damaging	1.00
R0630:Ppfibp2	UTSW	7	107738599	critical splice acceptor site	probably null
R1374:Ppfibp2	UTSW	7	107685988	splice site	probably benign
R1668:Ppfibp2	UTSW	7	107729892	missense	probably damaging	1.00
R1731:Ppfibp2	UTSW	7	107740589	missense	probably damaging	1.00
R1830:Ppfibp2	UTSW	7	107637297	missense	probably damaging	1.00
R1902:Ppfibp2	UTSW	7	107746378	missense	probably damaging	1.00
R2061:Ppfibp2	UTSW	7	107739230	missense	probably damaging	1.00
R2929:Ppfibp2	UTSW	7	107697651	missense	probably damaging	0.99
R3777:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R3778:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R4839:Ppfibp2	UTSW	7	107742985	missense	probably damaging	1.00
R4879:Ppfibp2	UTSW	7	107729183	missense	probably benign	0.01
R5643:Ppfibp2	UTSW	7	107737890	missense	probably damaging	1.00
R5773:Ppfibp2	UTSW	7	107685872	missense	possibly damaging	0.74
R6255:Ppfibp2	UTSW	7	107681762	missense	probably damaging	0.96
R6356:Ppfibp2	UTSW	7	107681769	missense	probably benign	0.01
R6843:Ppfibp2	UTSW	7	107727731	missense	probably benign	0.00
R6889:Ppfibp2	UTSW	7	107737981	missense	possibly damaging	0.94
R7051:Ppfibp2	UTSW	7	107717718	missense	probably damaging	1.00
R7194:Ppfibp2	UTSW	7	107722980	critical splice donor site	probably null
R7654:Ppfibp2	UTSW	7	107738611	missense	probably damaging	0.99
R7678:Ppfibp2	UTSW	7	107716666	missense	probably damaging	0.98
R7895:Ppfibp2	UTSW	7	107721317	splice site	probably null
R8385:Ppfibp2	UTSW	7	107697687	missense	probably benign	0.44
R8434:Ppfibp2	UTSW	7	107728750	critical splice donor site	probably null
R8691:Ppfibp2	UTSW	7	107747578	missense	probably damaging	0.99
R8695:Ppfibp2	UTSW	7	107685856	splice site	probably benign
R8700:Ppfibp2	UTSW	7	107746395	missense	possibly damaging	0.94
R8755:Ppfibp2	UTSW	7	107744225	missense	probably damaging	1.00
R9182:Ppfibp2	UTSW	7	107708846	missense	possibly damaging	0.72
R9355:Ppfibp2	UTSW	7	107722962	missense	probably benign	0.00
R9545:Ppfibp2	UTSW	7	107738297	missense	probably damaging	1.00
R9688:Ppfibp2	UTSW	7	107719241	missense	probably benign	0.02
RF022:Ppfibp2	UTSW	7	107697610	missense	probably damaging	1.00
Z1177:Ppfibp2	UTSW	7	107743050	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AATGCACAGGGAAGTCTGCG -3'
(R):5'- CCAAAGCACTAGTAATCCATCTGTC -3'

Sequencing Primer
(F):5'- AGGCTAACATCCCAGTGCTCTG -3'
(R):5'- GTCTTTCACAAGTAAGCTGCTG -3'

Posted On

2022-02-07