Mutagenetix > Incidental Mutation

Incidental Mutation 'R0673:Prr14l'

61509

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

038858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R0673 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32986259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1079 (D1079N)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]

AlphaFold

E9Q7C4

Predicted Effect

probably benign
Transcript: ENSMUST00000120129
AA Change: D1079N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: D1079N

Domain	Start	End	E-Value	Type
low complexity region	720	731	N/A	INTRINSIC
low complexity region	1433	1446	N/A	INTRINSIC
low complexity region	1471	1480	N/A	INTRINSIC
Pfam:Tantalus	1838	1895	2.9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144673

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

Domain	Start	End	E-Value	Type
Pfam:Tantalus	158	193	1.2e-15	PFAM
Pfam:PS_Dcarbxylase	332	575	2.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155392

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280

Domain	Start	End	E-Value	Type
low complexity region	276	289	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 46,043,999 (GRCm39)	W86*	probably null	Het
2700049A03Rik	C	T	12: 71,224,642 (GRCm39)	P894S	probably damaging	Het
Adgrg7	A	T	16: 56,593,849 (GRCm39)	N122K	possibly damaging	Het
Ankrd13d	A	T	19: 4,323,047 (GRCm39)		probably null	Het
Blm	A	T	7: 80,149,499 (GRCm39)		probably null	Het
Caml	C	T	13: 55,779,641 (GRCm39)	T238M	probably damaging	Het
Casd1	T	A	6: 4,624,440 (GRCm39)	V411D	possibly damaging	Het
Cdc25b	A	G	2: 131,039,182 (GRCm39)	N516D	probably benign	Het
Cmya5	A	G	13: 93,226,505 (GRCm39)	I2861T	probably damaging	Het
Csmd3	A	G	15: 47,777,336 (GRCm39)	L1294P	probably damaging	Het
Cxxc1	A	G	18: 74,351,984 (GRCm39)	D287G	possibly damaging	Het
Dgkq	T	C	5: 108,803,455 (GRCm39)	H217R	probably damaging	Het
Disp2	A	T	2: 118,621,325 (GRCm39)	I686F	possibly damaging	Het
Dnah6	T	A	6: 73,100,794 (GRCm39)	N2003I	probably benign	Het
Dsc3	T	A	18: 20,122,647 (GRCm39)	R92S	probably damaging	Het
Ei24	T	G	9: 36,699,551 (GRCm39)		probably null	Het
Fgl1	G	T	8: 41,644,661 (GRCm39)	T281K	probably benign	Het
Gbp3	A	G	3: 142,271,015 (GRCm39)	T140A	probably benign	Het
Gtpbp3	A	T	8: 71,945,379 (GRCm39)	I485F	probably damaging	Het
Harbi1	C	T	2: 91,542,880 (GRCm39)	R114W	probably damaging	Het
Inmt	A	C	6: 55,148,212 (GRCm39)	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,451,147 (GRCm39)	M501L	probably benign	Het
Jmjd1c	A	G	10: 67,062,588 (GRCm39)	N1647S	probably damaging	Het
Lgals9	A	G	11: 78,856,679 (GRCm39)	F252L	probably damaging	Het
Lingo3	C	A	10: 80,671,618 (GRCm39)	R104L	probably benign	Het
Lrrc8c	G	A	5: 105,755,544 (GRCm39)	V440M	probably damaging	Het
Mybpc3	G	A	2: 90,950,772 (GRCm39)	G36D	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nudt12	A	T	17: 59,314,617 (GRCm39)		probably null	Het
Or2l5	A	G	16: 19,334,146 (GRCm39)	M80T	probably damaging	Het
Or4c3d	A	C	2: 89,882,596 (GRCm39)	M24R	probably benign	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Rasal1	A	G	5: 120,808,449 (GRCm39)	T494A	probably benign	Het
Sacs	A	G	14: 61,447,664 (GRCm39)	K3237E	possibly damaging	Het
Sh3d19	T	C	3: 86,014,280 (GRCm39)	S415P	probably benign	Het
Sypl1	A	T	12: 33,015,420 (GRCm39)	T40S	probably damaging	Het
Tg	A	T	15: 66,613,333 (GRCm39)		probably null	Het
Tmed8	A	G	12: 87,220,878 (GRCm39)	V236A	probably damaging	Het
Vmn1r33	T	C	6: 66,588,783 (GRCm39)	Y257C	probably damaging	Het
Yme1l1	T	C	2: 23,058,300 (GRCm39)	F144S	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32,988,020 (GRCm39)	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32,988,410 (GRCm39)	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32,986,150 (GRCm39)	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32,989,189 (GRCm39)	unclassified	probably benign
IGL01929:Prr14l	APN	5	32,985,587 (GRCm39)	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32,987,549 (GRCm39)	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32,984,876 (GRCm39)	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32,985,151 (GRCm39)	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32,988,286 (GRCm39)	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32,988,828 (GRCm39)	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32,986,828 (GRCm39)	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32,987,887 (GRCm39)	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32,985,526 (GRCm39)	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32,988,440 (GRCm39)	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32,993,014 (GRCm39)	missense	unknown
IGL03034:Prr14l	APN	5	32,984,782 (GRCm39)	missense	possibly damaging	0.48
Polymer	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
Postwar	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32,951,072 (GRCm39)	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32,988,903 (GRCm39)	unclassified	probably benign
R0149:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32,985,337 (GRCm39)	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32,986,061 (GRCm39)	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32,987,224 (GRCm39)	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	33,001,560 (GRCm39)	intron	probably benign
R0639:Prr14l	UTSW	5	32,986,259 (GRCm39)	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32,988,538 (GRCm39)	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32,985,767 (GRCm39)	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32,986,826 (GRCm39)	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32,987,604 (GRCm39)	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32,985,293 (GRCm39)	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32,987,626 (GRCm39)	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	33,001,813 (GRCm39)	intron	probably benign
R2129:Prr14l	UTSW	5	32,989,172 (GRCm39)	unclassified	probably benign
R2150:Prr14l	UTSW	5	32,988,046 (GRCm39)	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32,987,422 (GRCm39)	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32,987,112 (GRCm39)	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32,985,963 (GRCm39)	splice site	probably null
R3820:Prr14l	UTSW	5	32,986,328 (GRCm39)	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32,987,689 (GRCm39)	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32,985,347 (GRCm39)	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32,985,920 (GRCm39)	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32,986,598 (GRCm39)	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32,950,988 (GRCm39)	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32,986,652 (GRCm39)	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	33,001,500 (GRCm39)	intron	probably benign
R4824:Prr14l	UTSW	5	33,001,743 (GRCm39)	intron	probably benign
R4868:Prr14l	UTSW	5	32,987,281 (GRCm39)	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32,987,591 (GRCm39)	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32,987,365 (GRCm39)	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32,985,121 (GRCm39)	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	33,001,482 (GRCm39)	intron	probably benign
R5623:Prr14l	UTSW	5	33,001,852 (GRCm39)	intron	probably benign
R5730:Prr14l	UTSW	5	32,950,947 (GRCm39)	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32,988,195 (GRCm39)	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32,986,748 (GRCm39)	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32,987,608 (GRCm39)	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32,984,869 (GRCm39)	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32,985,892 (GRCm39)	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32,985,103 (GRCm39)	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32,988,211 (GRCm39)	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32,988,035 (GRCm39)	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32,986,771 (GRCm39)	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32,986,510 (GRCm39)	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32,987,431 (GRCm39)	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32,988,445 (GRCm39)	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32,985,982 (GRCm39)	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32,986,967 (GRCm39)	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32,985,589 (GRCm39)	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32,984,597 (GRCm39)	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	33,001,735 (GRCm39)	intron	probably benign
R7898:Prr14l	UTSW	5	32,987,310 (GRCm39)	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32,988,508 (GRCm39)	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32,987,478 (GRCm39)	nonsense	probably null
R9136:Prr14l	UTSW	5	32,986,080 (GRCm39)	missense
R9682:Prr14l	UTSW	5	32,988,023 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCTTTTCCAACAGGTATGTGACCC -3'
(R):5'- AGAACTCCCAAATGCTGCTGCTTC -3'

Sequencing Primer
(F):5'- GTATGTGACCCAGTAGTCCAGTC -3'
(R):5'- CAGACTCTGCCATTGATCATGAAG -3'

Posted On

2013-07-30