Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Pls1'

701878

Institutional Source

Beutler Lab

Gene Symbol

Pls1

Ensembl Gene

ENSMUSG00000049493

Gene Name

plastin 1 (I-isoform)

Synonyms

I-fimbrin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95634695-95727359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95655696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 352 (V352A)

Ref Sequence

ENSEMBL: ENSMUSP00000091317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093800]

AlphaFold

Q3V0K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000093800
AA Change: V352A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091317
Gene: ENSMUSG00000049493
AA Change: V352A

Domain	Start	End	E-Value	Type
EFh	15	43	8.5e-5	SMART
EFh	55	83	1.73e-5	SMART
low complexity region	100	116	N/A	INTRINSIC
CH	124	236	3.69e-23	SMART
CH	268	375	4.4e-21	SMART
CH	398	503	7.27e-22	SMART
CH	519	624	3.75e-15	SMART

Meta Mutation Damage Score

0.4665

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation for this gene leads to altered intestinal morphology and physiology, increased brush border fragility and susceptibility to induced colitis, as well as a moderate and progressive form of hearing loss associated with defects in stereocilia morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	probably benign	Het

Other mutations in Pls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Pls1	APN	9	95,664,472 (GRCm39)	missense	possibly damaging	0.95
IGL00836:Pls1	APN	9	95,643,475 (GRCm39)	missense	possibly damaging	0.86
IGL01391:Pls1	APN	9	95,655,751 (GRCm39)	missense	probably benign	0.38
IGL02335:Pls1	APN	9	95,666,236 (GRCm39)	missense	probably benign	0.32
IGL02875:Pls1	APN	9	95,636,404 (GRCm39)	missense	possibly damaging	0.93
IGL03081:Pls1	APN	9	95,655,696 (GRCm39)	missense	probably damaging	1.00
IGL03271:Pls1	APN	9	95,658,883 (GRCm39)	missense	probably benign	0.04
PIT4585001:Pls1	UTSW	9	95,643,443 (GRCm39)	missense	probably benign
R0048:Pls1	UTSW	9	95,669,116 (GRCm39)	missense	probably damaging	1.00
R0088:Pls1	UTSW	9	95,677,821 (GRCm39)	missense	possibly damaging	0.93
R0409:Pls1	UTSW	9	95,668,972 (GRCm39)	splice site	probably benign
R2015:Pls1	UTSW	9	95,643,418 (GRCm39)	missense	possibly damaging	0.77
R2516:Pls1	UTSW	9	95,658,616 (GRCm39)	missense	probably benign	0.00
R2985:Pls1	UTSW	9	95,667,635 (GRCm39)	missense	possibly damaging	0.73
R3964:Pls1	UTSW	9	95,667,665 (GRCm39)	missense	probably benign	0.00
R3965:Pls1	UTSW	9	95,667,665 (GRCm39)	missense	probably benign	0.00
R5240:Pls1	UTSW	9	95,658,675 (GRCm39)	splice site	probably null
R5681:Pls1	UTSW	9	95,669,065 (GRCm39)	missense	probably damaging	1.00
R6399:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6441:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6496:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6498:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R6499:Pls1	UTSW	9	95,636,798 (GRCm39)	missense	probably damaging	0.99
R7016:Pls1	UTSW	9	95,668,994 (GRCm39)	missense	probably damaging	1.00
R7177:Pls1	UTSW	9	95,655,612 (GRCm39)	missense	probably benign	0.01
R7458:Pls1	UTSW	9	95,667,560 (GRCm39)	missense	probably damaging	1.00
R7467:Pls1	UTSW	9	95,651,166 (GRCm39)	missense	possibly damaging	0.78
R7536:Pls1	UTSW	9	95,644,110 (GRCm39)	missense	probably damaging	1.00
R7553:Pls1	UTSW	9	95,669,140 (GRCm39)	missense	probably damaging	1.00
R7691:Pls1	UTSW	9	95,655,726 (GRCm39)	missense	probably benign	0.21
R7756:Pls1	UTSW	9	95,658,897 (GRCm39)	missense	probably benign	0.44
R7758:Pls1	UTSW	9	95,658,897 (GRCm39)	missense	probably benign	0.44
R7876:Pls1	UTSW	9	95,667,558 (GRCm39)	nonsense	probably null
R8269:Pls1	UTSW	9	95,644,023 (GRCm39)	missense	probably damaging	1.00
R8380:Pls1	UTSW	9	95,657,438 (GRCm39)	missense	probably benign	0.03
R9182:Pls1	UTSW	9	95,658,811 (GRCm39)	missense	probably damaging	1.00
R9283:Pls1	UTSW	9	95,655,642 (GRCm39)	missense	probably benign	0.43
R9604:Pls1	UTSW	9	95,644,057 (GRCm39)	missense	probably damaging	1.00
Z1177:Pls1	UTSW	9	95,667,671 (GRCm39)	missense	possibly damaging	0.82
Z1177:Pls1	UTSW	9	95,636,440 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACATTTCCCACCAGAGTC -3'
(R):5'- AGTGGTTCTTTCAGAGTCTGCTATTAC -3'

Sequencing Primer
(F):5'- CGGTGAAGTAGGACATTACCAC -3'
(R):5'- CTTTCAGAGTCTGCTATTACTTGATG -3'

Posted On

2022-03-25