Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Prr5l'

507816

Institutional Source

Beutler Lab

Gene Symbol

Prr5l

Ensembl Gene

ENSMUSG00000032841

Gene Name

proline rich 5 like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101714285-101883027 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101717420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 253 (Y253*)

Ref Sequence

ENSEMBL: ENSMUSP00000130152 (fasta)

Gene Model

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

AlphaFold

A2AVJ5

Predicted Effect

probably null
Transcript: ENSMUST00000043845
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: Y253*

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 null
Transcript: ENSMUST00000141814
AA Change: Y181*

SMART Domains

Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841
AA Change: Y181*

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 null
Transcript: ENSMUST00000163762
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: Y253*

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 null
Transcript: ENSMUST00000171088
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: Y253*

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

Meta Mutation Damage Score

0.9653

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	T	C	16: 13,677,270	S78P	probably damaging	Het
Ap1s3	T	C	1: 79,625,123	K56E	probably damaging	Het
Apob	C	T	12: 8,007,769	R2084*	probably null	Het
Arid1b	C	A	17: 5,341,999	L1935M	probably damaging	Het
Arntl2	A	G	6: 146,821,946	Y258C	probably damaging	Het
Bag6	T	C	17: 35,138,601	V122A	probably damaging	Het
Cacna1e	T	A	1: 154,425,932	T1685S	probably benign	Het
Cd163	T	A	6: 124,317,991	C671*	probably null	Het
Cul3	A	G	1: 80,286,952	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,373,968	K150N	probably damaging	Het
Dnah6	A	T	6: 73,065,815	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,325,886	F3609S	probably damaging	Het
Endod1	T	C	9: 14,356,870	T440A	probably benign	Het
Exph5	A	G	9: 53,373,946	T776A	possibly damaging	Het
Faap24	A	C	7: 35,396,284	V12G	possibly damaging	Het
Gabrg2	T	C	11: 42,000,523		probably null	Het
Ggta1	A	G	2: 35,407,994	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,090,701		probably null	Het
Il12a	A	T	3: 68,697,979	I193F	probably damaging	Het
Il2rb	T	C	15: 78,481,538	N520D	possibly damaging	Het
Kat6a	A	G	8: 22,939,612	Q1661R	unknown	Het
Klhl18	T	A	9: 110,436,062	N362I	probably benign	Het
Lrba	A	G	3: 86,348,864	D1171G	probably benign	Het
Mef2b	C	T	8: 70,167,119	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,397,657	S198P	probably benign	Het
Msh6	T	C	17: 87,980,249	W106R	probably damaging	Het
Nek5	T	A	8: 22,107,721	M281L	probably benign	Het
Olfr1202	A	T	2: 88,817,375	D68V	probably damaging	Het
Olfr1387	T	A	11: 49,460,212	C178S	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,665	I135V	probably benign	Het
Olfr596	A	T	7: 103,310,429	H236L	probably benign	Het
Olfr676	G	A	7: 105,035,671	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,732,699	F516I	probably damaging	Het
Pde10a	T	C	17: 8,978,957	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,699,180	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,723,248	N167K	possibly damaging	Het
Pkmyt1	C	T	17: 23,732,502	P10L	probably benign	Het
Rdh9	A	G	10: 127,776,758	T92A	probably benign	Het
Reln	A	G	5: 21,896,841	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,133,224	S369T	probably benign	Het
Ryr1	A	T	7: 29,087,428	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,680,999	H2994L	probably damaging	Het
Safb2	T	C	17: 56,563,226	H950R	possibly damaging	Het
Sez6	T	C	11: 77,976,541	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,623,853	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,104,102	I332F	possibly damaging	Het
Skor1	A	T	9: 63,145,314	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc19a2	C	T	1: 164,256,775	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,314,978	I356F	probably damaging	Het
Slk	A	G	19: 47,642,004	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,533,289	S64P	possibly damaging	Het
Tnpo1	G	A	13: 98,890,708	P25L	possibly damaging	Het
Top3a	T	C	11: 60,749,408	D488G	probably benign	Het
Tshz1	A	T	18: 84,015,311	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,961,839	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,840,691	L342P	probably damaging	Het
Vwa3a	A	G	7: 120,782,400	N3S	probably damaging	Het
Zfp672	A	T	11: 58,317,268	C76S	probably damaging	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
PIT4618001:Prr5l	UTSW	2	101758530	missense	probably damaging	0.99
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
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'- GCAAGAGCAGGTGTTTGTCC -3'
(R):5'- TGTTCTCCATTGCACTCAGTAGG -3'

Sequencing Primer
(F):5'- CAGGTGTTTGTCCTCGCCG -3'
(R):5'- AGTAGGGCTCCACTAAAGCTGTTC -3'

Posted On

2018-03-15