Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Qrfprl'

585307

Institutional Source

Beutler Lab

Gene Symbol

Qrfprl

Ensembl Gene

ENSMUSG00000029917

Gene Name

pyroglutamylated RFamide peptide receptor like

Synonyms

C130060K24Rik

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65358278-65435134 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 65429891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 196 (E196*)

Ref Sequence

ENSEMBL: ENSMUSP00000130225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133352] [ENSMUST00000170608]

AlphaFold

G3UWA8

Predicted Effect

probably null
Transcript: ENSMUST00000133352
AA Change: E143*

SMART Domains

Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
AA Change: E143*

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	55	113	1.2e-7	PFAM
Pfam:7tm_1	61	122	1.3e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136016
AA Change: E87*

SMART Domains

Protein: ENSMUSP00000121875
Gene: ENSMUSG00000029917
AA Change: E87*

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170608
AA Change: E196*

SMART Domains

Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: E196*

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	55	346	2.5e-5	PFAM
Pfam:7tm_1	61	331	7.2e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,688,501 (GRCm39)	M411K	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Efcab14	C	A	4: 115,617,159 (GRCm39)	S289R	probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or51t4	C	T	7: 102,598,473 (GRCm39)	P267L	probably damaging	Het
Pick1	T	C	15: 79,139,781 (GRCm39)	V360A	unknown	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		probably benign	Het

Other mutations in Qrfprl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Qrfprl	APN	6	65,358,594 (GRCm39)	missense	probably benign	0.36
IGL03335:Qrfprl	APN	6	65,430,101 (GRCm39)	critical splice donor site	probably null
R1291:Qrfprl	UTSW	6	65,429,884 (GRCm39)	nonsense	probably null
R1689:Qrfprl	UTSW	6	65,358,591 (GRCm39)	missense	possibly damaging	0.84
R1705:Qrfprl	UTSW	6	65,433,290 (GRCm39)	missense	probably benign	0.01
R2188:Qrfprl	UTSW	6	65,418,260 (GRCm39)	missense	probably damaging	0.97
R3955:Qrfprl	UTSW	6	65,430,092 (GRCm39)	missense	possibly damaging	0.73
R4058:Qrfprl	UTSW	6	65,358,525 (GRCm39)	missense	probably damaging	1.00
R4572:Qrfprl	UTSW	6	65,431,975 (GRCm39)	missense	probably benign	0.06
R4597:Qrfprl	UTSW	6	65,424,408 (GRCm39)	critical splice donor site	probably null
R4756:Qrfprl	UTSW	6	65,429,898 (GRCm39)	missense	probably benign	0.02
R5139:Qrfprl	UTSW	6	65,433,203 (GRCm39)	missense	probably damaging	0.98
R5872:Qrfprl	UTSW	6	65,418,369 (GRCm39)	intron	probably benign
R6193:Qrfprl	UTSW	6	65,433,142 (GRCm39)	missense	probably damaging	1.00
R6305:Qrfprl	UTSW	6	65,431,975 (GRCm39)	missense	probably benign	0.06
R6423:Qrfprl	UTSW	6	65,433,077 (GRCm39)	missense	probably benign	0.01
R6453:Qrfprl	UTSW	6	65,430,014 (GRCm39)	missense	possibly damaging	0.71
R6677:Qrfprl	UTSW	6	65,433,229 (GRCm39)	missense	probably benign
R6744:Qrfprl	UTSW	6	65,418,324 (GRCm39)	missense	possibly damaging	0.88
R6793:Qrfprl	UTSW	6	65,358,405 (GRCm39)	missense	probably benign	0.20
R6875:Qrfprl	UTSW	6	65,433,320 (GRCm39)	missense	probably benign	0.21
R6941:Qrfprl	UTSW	6	65,424,385 (GRCm39)	missense	probably damaging	1.00
R6995:Qrfprl	UTSW	6	65,418,285 (GRCm39)	missense	probably damaging	1.00
R7063:Qrfprl	UTSW	6	65,418,387 (GRCm39)	intron	probably benign
R7699:Qrfprl	UTSW	6	65,429,940 (GRCm39)	missense	probably benign	0.30
R7700:Qrfprl	UTSW	6	65,429,940 (GRCm39)	missense	probably benign	0.30
R7711:Qrfprl	UTSW	6	65,418,357 (GRCm39)	missense
R7799:Qrfprl	UTSW	6	65,433,121 (GRCm39)	missense	possibly damaging	0.78
R7801:Qrfprl	UTSW	6	65,418,201 (GRCm39)	missense	probably damaging	1.00
R8737:Qrfprl	UTSW	6	65,433,260 (GRCm39)	missense	probably benign
R8762:Qrfprl	UTSW	6	65,424,393 (GRCm39)	missense	probably benign	0.12
R8927:Qrfprl	UTSW	6	65,358,597 (GRCm39)	nonsense	probably null
R8928:Qrfprl	UTSW	6	65,358,597 (GRCm39)	nonsense	probably null
R9317:Qrfprl	UTSW	6	65,424,368 (GRCm39)	missense	probably benign	0.10
R9405:Qrfprl	UTSW	6	65,433,078 (GRCm39)	missense	probably benign	0.16
R9712:Qrfprl	UTSW	6	65,433,124 (GRCm39)	missense	probably benign	0.00
RF018:Qrfprl	UTSW	6	65,433,174 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCAGACACTGTCCTGCATTC -3'
(R):5'- GAATAGTTCGGAGCACTGAGC -3'

Sequencing Primer
(F):5'- CTTAGTGGTCCAGGGAAAAACCTAC -3'
(R):5'- ACTGAGCCATCCCCGATTC -3'

Posted On

2019-10-17