Mutagenetix > Incidental Mutation

Incidental Mutation 'R5730:Prr14l'

452709

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

043191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32950947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1949 (T1949A)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: T1949A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: T1949A

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

noncoding transcript
Transcript: ENSMUST00000147752

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,617 (GRCm39)	V2967A	possibly damaging	Het
Apaf1	A	T	10: 90,856,633 (GRCm39)	I858K	possibly damaging	Het
Baiap3	T	C	17: 25,466,498 (GRCm39)	T466A	probably benign	Het
Brca2	T	A	5: 150,492,470 (GRCm39)	S3162T	possibly damaging	Het
Brd1	T	G	15: 88,601,248 (GRCm39)	N462T	probably benign	Het
Carm1	G	A	9: 21,491,636 (GRCm39)	R235H	probably benign	Het
Cd80	T	C	16: 38,303,097 (GRCm39)		probably null	Het
Clip4	A	G	17: 72,117,954 (GRCm39)	Y333C	probably damaging	Het
Col7a1	T	C	9: 108,801,310 (GRCm39)		probably null	Het
Csmd1	G	A	8: 16,235,206 (GRCm39)	Q1206*	probably null	Het
Cyp17a1	A	G	19: 46,661,095 (GRCm39)	I63T	possibly damaging	Het
Diaph1	A	G	18: 38,036,829 (GRCm39)	Y119H	unknown	Het
Dst	T	G	1: 34,156,607 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,063,827 (GRCm39)	T785A	probably damaging	Het
Gm1553	A	G	10: 82,323,945 (GRCm39)	F94S	unknown	Het
Gpbar1	A	G	1: 74,318,195 (GRCm39)	N146S	probably damaging	Het
Gpc5	A	G	14: 116,025,726 (GRCm39)	T588A	possibly damaging	Het
Gramd2a	A	G	9: 59,618,489 (GRCm39)	H9R	probably damaging	Het
Klk1b11	G	A	7: 43,424,199 (GRCm39)	S6N	probably benign	Het
Lrp1	A	G	10: 127,419,703 (GRCm39)	S969P	probably benign	Het
Lyz2	G	T	10: 117,114,587 (GRCm39)	A114E	probably damaging	Het
Madd	T	C	2: 90,988,454 (GRCm39)	D1193G	probably damaging	Het
Mrpl39	C	T	16: 84,529,322 (GRCm39)	G107R	probably damaging	Het
Mthfd2	C	T	6: 83,294,441 (GRCm39)	R24H	probably benign	Het
Or2q1	C	T	6: 42,795,094 (GRCm39)	R230*	probably null	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Ovch2	A	G	7: 107,392,606 (GRCm39)	C246R	probably damaging	Het
Phf14	A	T	6: 11,953,319 (GRCm39)	I353F	possibly damaging	Het
Ppp2r5a	C	T	1: 191,104,732 (GRCm39)	V105I	probably benign	Het
Prss48	T	G	3: 85,904,563 (GRCm39)	M212L	possibly damaging	Het
Pstk	A	T	7: 130,975,503 (GRCm39)	D152V	probably damaging	Het
Scn2a	C	A	2: 65,512,882 (GRCm39)	S214*	probably null	Het
Scn3a	T	G	2: 65,325,604 (GRCm39)	N971T	probably benign	Het
Syne3	T	C	12: 104,927,713 (GRCm39)	I250V	probably benign	Het
Synpo2	T	C	3: 122,907,768 (GRCm39)	D516G	probably benign	Het
Tcea3	T	C	4: 135,992,204 (GRCm39)	V209A	probably benign	Het
Tnr	A	G	1: 159,715,892 (GRCm39)	S885G	probably benign	Het
Trak2	T	C	1: 58,960,966 (GRCm39)	D188G	probably damaging	Het
Tubb1	A	G	2: 174,299,562 (GRCm39)	I415V	probably benign	Het
Virma	T	A	4: 11,542,154 (GRCm39)	M1580K	probably benign	Het
Vmn1r120	A	T	7: 20,786,934 (GRCm39)	I259N	possibly damaging	Het
Vmn1r64	G	A	7: 5,887,522 (GRCm39)	T7I	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
R0673: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
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'- TTAGAGGGCCCTTCTTCACC -3'
(R):5'- ACGAAATGGTACCCTGATCTCTATC -3'

Sequencing Primer
(F):5'- TCTTCACCAGCTTCTAAAAAGGCTG -3'
(R):5'- TGATCTCTATCAGCCAGCAGAAAAGG -3'

Posted On

2017-01-03