Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Rnpepl1'

376934

Institutional Source

Beutler Lab

Gene Symbol

Rnpepl1

Ensembl Gene

ENSMUSG00000026269

Gene Name

arginyl aminopeptidase (aminopeptidase B)-like 1

Synonyms

1110014H17Rik

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92837697-92848307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92842835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 140 (T140S)

Ref Sequence

ENSEMBL: ENSMUSP00000136080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]

AlphaFold

G5E872

Predicted Effect

probably damaging
Transcript: ENSMUST00000027487
AA Change: T190S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: T190S

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
Pfam:Peptidase_M1	36	440	3e-58	PFAM
Leuk-A4-hydro_C	523	668	1.31e-46	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178116
AA Change: T140S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269
AA Change: T140S

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	5	170	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178816

Predicted Effect

probably benign
Transcript: ENSMUST00000179127

Predicted Effect

unknown
Transcript: ENSMUST00000179993
AA Change: T110S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181575

Predicted Effect

probably benign
Transcript: ENSMUST00000179531

Predicted Effect

probably benign
Transcript: ENSMUST00000179837

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	C	1: 138,779,903 (GRCm39)	Y116*	probably null	Het
Abtb3	C	T	10: 85,223,242 (GRCm39)	T17M	unknown	Het
Acer3	T	C	7: 97,906,908 (GRCm39)	T91A	possibly damaging	Het
Acsbg3	A	T	17: 57,183,324 (GRCm39)	I22F	possibly damaging	Het
Adam12	T	C	7: 133,774,550 (GRCm39)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,330,374 (GRCm39)	V98I	probably benign	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alpk1	C	T	3: 127,467,124 (GRCm39)	G1052R	probably damaging	Het
Anln	A	T	9: 22,291,484 (GRCm39)	S115T	possibly damaging	Het
Apob	T	A	12: 8,063,099 (GRCm39)	N3827K	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,231,617 (GRCm39)	S123G	probably damaging	Het
Arvcf	C	T	16: 18,216,863 (GRCm39)	R333*	probably null	Het
Brca2	T	A	5: 150,480,402 (GRCm39)	L2724Q	probably damaging	Het
C2cd6	T	A	1: 59,133,893 (GRCm39)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,596,261 (GRCm39)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,858 (GRCm39)	I26F	possibly damaging	Het
Card10	A	T	15: 78,665,724 (GRCm39)	V673E	possibly damaging	Het
Catspere2	A	G	1: 177,931,515 (GRCm39)	Y478C	unknown	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc121	A	G	5: 31,643,596 (GRCm39)	I109V	probably benign	Het
Cdc42bpa	T	C	1: 179,972,200 (GRCm39)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,220,257 (GRCm39)	C267Y	probably benign	Het
Cep68	G	A	11: 20,189,239 (GRCm39)	T591M	probably benign	Het
Chil4	T	C	3: 106,111,460 (GRCm39)	K218R	probably benign	Het
Cldn14	G	T	16: 93,716,747 (GRCm39)	T33K	possibly damaging	Het
Copa	T	A	1: 171,919,843 (GRCm39)	C140S	probably benign	Het
Coq6	T	C	12: 84,419,070 (GRCm39)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,521,816 (GRCm39)	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,474,093 (GRCm39)	S414A	probably benign	Het
Dpm1	T	C	2: 168,059,679 (GRCm39)	N139S	probably benign	Het
Dpp7	T	A	2: 25,242,770 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,057,447 (GRCm39)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,063,334 (GRCm39)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm39)	T275A	probably benign	Het
Fbn1	T	A	2: 125,151,694 (GRCm39)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,409,527 (GRCm39)	S587P	unknown	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,696,065 (GRCm39)	*124W	probably null	Het
Gm7535	T	A	17: 18,131,333 (GRCm39)		probably benign	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Herc3	T	C	6: 58,864,484 (GRCm39)	V706A	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,233,946 (GRCm39)	I382V	probably benign	Het
Ints1	G	T	5: 139,756,911 (GRCm39)	T467N	possibly damaging	Het
Iqca1	G	A	1: 89,973,423 (GRCm39)	T783M	probably damaging	Het
Kng1	A	G	16: 22,886,448 (GRCm39)	K131R	possibly damaging	Het
Krt35	T	C	11: 99,983,956 (GRCm39)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 101,943,881 (GRCm39)	C64R	probably damaging	Het
Lilrb4b	C	T	10: 51,360,616 (GRCm39)	A272V	possibly damaging	Het
Lrrc37	T	C	11: 103,505,698 (GRCm39)	H2090R	probably benign	Het
Ltn1	A	T	16: 87,195,697 (GRCm39)	C1276*	probably null	Het
Matn1	G	A	4: 130,679,425 (GRCm39)	A360T	probably benign	Het
Minpp1	G	A	19: 32,475,784 (GRCm39)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm39)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,195,616 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,595,793 (GRCm39)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,013,913 (GRCm39)	Y235*	probably null	Het
Myh4	G	T	11: 67,131,880 (GRCm39)	W113C	probably damaging	Het
Nav2	T	A	7: 49,198,182 (GRCm39)	C1270*	probably null	Het
Ncoa5	A	G	2: 164,844,070 (GRCm39)	L111P	probably damaging	Het
Nup107	T	C	10: 117,606,383 (GRCm39)	Y453C	probably damaging	Het
Oca2	C	T	7: 55,980,106 (GRCm39)	Q604*	probably null	Het
Or13a19	T	C	7: 139,903,014 (GRCm39)	M134T	probably benign	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or14j10	A	T	17: 37,934,782 (GRCm39)	V248D	probably damaging	Het
Or5p58	T	A	7: 107,694,303 (GRCm39)	N158I	probably benign	Het
Or8g33	T	C	9: 39,337,531 (GRCm39)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,416,668 (GRCm39)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 98,983,381 (GRCm39)	C76S	probably damaging	Het
Plk1	T	C	7: 121,767,828 (GRCm39)	V411A	probably damaging	Het
Pole	C	T	5: 110,472,619 (GRCm39)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,260,881 (GRCm39)	T979A	probably benign	Het
Rdh7	T	A	10: 127,721,590 (GRCm39)	T229S	probably benign	Het
Rps6kc1	A	T	1: 190,530,891 (GRCm39)	S947T	probably benign	Het
Rtl1	A	G	12: 109,558,138 (GRCm39)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,841,708 (GRCm39)	M279I	probably damaging	Het
Siae	T	C	9: 37,539,096 (GRCm39)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,113,148 (GRCm39)	V364I	probably benign	Het
Sltm	G	T	9: 70,496,260 (GRCm39)	V932F	probably damaging	Het
Smad1	A	G	8: 80,076,381 (GRCm39)	L279P	probably damaging	Het
Spag17	G	T	3: 99,958,147 (GRCm39)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,723,895 (GRCm39)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,684,844 (GRCm39)	I519V	probably benign	Het
Syt16	A	T	12: 74,176,160 (GRCm39)	I10F	probably damaging	Het
Trim43b	C	G	9: 88,973,365 (GRCm39)	G123R	probably damaging	Het
Ubr3	T	C	2: 69,843,475 (GRCm39)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wdr93	T	C	7: 79,435,522 (GRCm39)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm39)	C394Y	possibly damaging	Het

Other mutations in Rnpepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Rnpepl1	APN	1	92,843,621 (GRCm39)	missense	possibly damaging	0.69
IGL01291:Rnpepl1	APN	1	92,847,468 (GRCm39)	missense	probably benign
IGL02266:Rnpepl1	APN	1	92,844,611 (GRCm39)	missense	probably damaging	1.00
IGL02481:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL02483:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL03377:Rnpepl1	APN	1	92,846,953 (GRCm39)	missense	probably benign	0.01
ANU05:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense	probably benign
R0069:Rnpepl1	UTSW	1	92,846,620 (GRCm39)	missense	possibly damaging	0.91
R0409:Rnpepl1	UTSW	1	92,843,582 (GRCm39)	missense	probably damaging	1.00
R0479:Rnpepl1	UTSW	1	92,846,587 (GRCm39)	unclassified	probably benign
R1155:Rnpepl1	UTSW	1	92,844,609 (GRCm39)	missense	probably damaging	1.00
R1170:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R1397:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R1601:Rnpepl1	UTSW	1	92,844,944 (GRCm39)	missense	possibly damaging	0.95
R2184:Rnpepl1	UTSW	1	92,844,545 (GRCm39)	missense	probably benign	0.43
R2187:Rnpepl1	UTSW	1	92,844,617 (GRCm39)	missense	probably null	1.00
R2211:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R2902:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3105:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3196:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R3439:Rnpepl1	UTSW	1	92,844,662 (GRCm39)	missense	possibly damaging	0.94
R4966:Rnpepl1	UTSW	1	92,844,483 (GRCm39)	missense	probably damaging	1.00
R5212:Rnpepl1	UTSW	1	92,839,045 (GRCm39)	missense	probably benign	0.03
R5214:Rnpepl1	UTSW	1	92,847,001 (GRCm39)	missense	probably benign	0.01
R5385:Rnpepl1	UTSW	1	92,844,914 (GRCm39)	missense	probably damaging	1.00
R5655:Rnpepl1	UTSW	1	92,847,032 (GRCm39)	missense	probably damaging	1.00
R5694:Rnpepl1	UTSW	1	92,846,663 (GRCm39)	missense	probably benign	0.03
R5940:Rnpepl1	UTSW	1	92,845,434 (GRCm39)	missense	probably damaging	1.00
R6046:Rnpepl1	UTSW	1	92,844,543 (GRCm39)	missense	probably damaging	1.00
R6086:Rnpepl1	UTSW	1	92,845,403 (GRCm39)	missense	probably damaging	1.00
R6104:Rnpepl1	UTSW	1	92,843,606 (GRCm39)	missense	probably benign
R6349:Rnpepl1	UTSW	1	92,847,563 (GRCm39)	missense	probably damaging	1.00
R7381:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R7402:Rnpepl1	UTSW	1	92,847,372 (GRCm39)	missense	probably benign	0.01
R7474:Rnpepl1	UTSW	1	92,846,694 (GRCm39)	missense	probably benign	0.14
R7714:Rnpepl1	UTSW	1	92,844,890 (GRCm39)	missense	probably damaging	1.00
R9408:Rnpepl1	UTSW	1	92,845,424 (GRCm39)	missense	probably benign	0.19
R9566:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense
R9591:Rnpepl1	UTSW	1	92,847,309 (GRCm39)	missense	probably damaging	1.00
R9773:Rnpepl1	UTSW	1	92,847,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGGCCTGTAACAAAACAG -3'
(R):5'- ACTGTCCCACTAAGCAGCTG -3'

Sequencing Primer
(F):5'- GCAAGGGCCCTTCCTAAC -3'
(R):5'- TGGGATCCCAGTCTAGACAG -3'

Posted On

2016-03-17