Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:Prr5l'

555679

Institutional Source

Beutler Lab

Gene Symbol

Prr5l

Ensembl Gene

ENSMUSG00000032841

Gene Name

proline rich 5 like

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

PIT4618001 (G1)

Quality Score

214.009

Status

Not validated

Chromosome

Chromosomal Location

101714285-101883027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101758530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 92 (F92L)

Ref Sequence

ENSEMBL: ENSMUSP00000042167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043845] [ENSMUST00000125985] [ENSMUST00000154525] [ENSMUST00000163762] [ENSMUST00000171088]

AlphaFold

A2AVJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043845
AA Change: F92L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: F92L

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	47	152	5.4e-15	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125985
AA Change: F92L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122996
Gene: ENSMUSG00000032841
AA Change: F92L

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	128	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141814

SMART Domains

Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
low complexity region	56	69	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154525
AA Change: F92L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120192
Gene: ENSMUSG00000032841
AA Change: F92L

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	95	2.8e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163762
AA Change: F92L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: F92L

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	177	2.8e-36	PFAM
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171088
AA Change: F92L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: F92L

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Pfam:HbrB	45	177	2.8e-36	PFAM
low complexity region	323	332	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514	D527G	probably damaging	Het
Cyp2a12	C	A	7: 27,034,773	S377Y	probably benign	Het
Dapk2	A	G	9: 66,268,686	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222	F250L	probably damaging	Het
Flg2	A	T	3: 93,203,781	S1039C	unknown	Het
Gm609	A	G	16: 45,443,934	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066	A1839V		Het
Olr1	G	A	6: 129,499,906	A132V	probably damaging	Het
Paqr3	A	T	5: 97,103,471	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,602,812	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868	T43I	probably null	Het
Rai14	T	C	15: 10,575,156	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441	V471E	probably damaging	Het
Rpusd2	T	C	2: 119,038,452	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,738,611	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,356,510	K117R	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334	M432I	probably benign	Het

Other mutations in Prr5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Prr5l	APN	2	101772120	splice site	probably benign
IGL02946:Prr5l	APN	2	101772184	splice site	probably null
R0652:Prr5l	UTSW	2	101772290	missense	possibly damaging	0.94
R0722:Prr5l	UTSW	2	101717474	splice site	probably benign
R0882:Prr5l	UTSW	2	101758541	missense	possibly damaging	0.81
R1962:Prr5l	UTSW	2	101758509	critical splice donor site	probably null
R3013:Prr5l	UTSW	2	101734705	missense	probably damaging	1.00
R4564:Prr5l	UTSW	2	101746749	missense	probably damaging	1.00
R4604:Prr5l	UTSW	2	101729448	missense	probably benign	0.44
R4902:Prr5l	UTSW	2	101797682	utr 5 prime	probably benign
R5338:Prr5l	UTSW	2	101717107	missense	probably benign	0.00
R6279:Prr5l	UTSW	2	101717420	nonsense	probably null
R6792:Prr5l	UTSW	2	101717424	missense	probably benign	0.00
R7214:Prr5l	UTSW	2	101729432	missense	probably benign
R7299:Prr5l	UTSW	2	101717286	missense	probably damaging	1.00
R7301:Prr5l	UTSW	2	101717286	missense	probably damaging	1.00
R7672:Prr5l	UTSW	2	101734738	missense	probably damaging	1.00
R7702:Prr5l	UTSW	2	101717097	missense	probably benign	0.04
R8086:Prr5l	UTSW	2	101741364	missense	probably benign	0.00
R8116:Prr5l	UTSW	2	101797574	frame shift	probably null
R8297:Prr5l	UTSW	2	101741285	critical splice donor site	probably null
R8470:Prr5l	UTSW	2	101717085	missense	probably benign	0.06
R8753:Prr5l	UTSW	2	101741378	missense	probably damaging	1.00
RF028:Prr5l	UTSW	2	101797573	frame shift	probably null
RF033:Prr5l	UTSW	2	101797573	frame shift	probably null
RF039:Prr5l	UTSW	2	101797573	frame shift	probably null
X0018:Prr5l	UTSW	2	101717259	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATCTCCACTCACATCAGG -3'
(R):5'- AGAGCATTCCTTCCTCCAGC -3'

Sequencing Primer
(F):5'- CTCACATCAGGGACCAAGTGG -3'
(R):5'- AGCCTCGGTCCCTACCC -3'

Posted On

2019-06-07