Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Prrt4'

598822

Institutional Source

Beutler Lab

Gene Symbol

Prrt4

Ensembl Gene

ENSMUSG00000079654

Gene Name

proline-rich transmembrane protein 4

Synonyms

D330027H18Rik

MMRRC Submission

045831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29169231-29179583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29177718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 17 (L17P)

Ref Sequence

ENSEMBL: ENSMUSP00000123751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159200]

AlphaFold

B2RU40

Predicted Effect

probably damaging
Transcript: ENSMUST00000159200
AA Change: L17P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123751
Gene: ENSMUSG00000079654
AA Change: L17P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	33	41	N/A	INTRINSIC
low complexity region	84	90	N/A	INTRINSIC
low complexity region	152	171	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	396	418	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	467	489	N/A	INTRINSIC
transmembrane domain	504	521	N/A	INTRINSIC
low complexity region	607	625	N/A	INTRINSIC
low complexity region	678	702	N/A	INTRINSIC
low complexity region	784	824	N/A	INTRINSIC
low complexity region	838	854	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Car4	T	C	11: 84,856,449 (GRCm39)	S246P	probably damaging	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kif26b	T	A	1: 178,692,441 (GRCm39)	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het

Other mutations in Prrt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Prrt4	APN	6	29,176,455 (GRCm39)	missense	probably benign	0.33
IGL01585:Prrt4	APN	6	29,177,689 (GRCm39)	missense	probably benign	0.05
IGL03015:Prrt4	APN	6	29,169,996 (GRCm39)	missense	probably benign	0.27
R0143:Prrt4	UTSW	6	29,170,670 (GRCm39)	missense	probably damaging	1.00
R0586:Prrt4	UTSW	6	29,171,183 (GRCm39)	missense	probably damaging	1.00
R1052:Prrt4	UTSW	6	29,169,813 (GRCm39)	missense	possibly damaging	0.66
R1391:Prrt4	UTSW	6	29,169,950 (GRCm39)	missense	possibly damaging	0.90
R3907:Prrt4	UTSW	6	29,177,173 (GRCm39)	missense	probably damaging	1.00
R4239:Prrt4	UTSW	6	29,170,163 (GRCm39)	missense	probably damaging	0.97
R4829:Prrt4	UTSW	6	29,177,181 (GRCm39)	missense	probably benign	0.01
R5070:Prrt4	UTSW	6	29,177,511 (GRCm39)	missense	probably benign
R5825:Prrt4	UTSW	6	29,177,182 (GRCm39)	missense	probably benign	0.31
R6023:Prrt4	UTSW	6	29,176,452 (GRCm39)	missense	probably benign
R6776:Prrt4	UTSW	6	29,176,551 (GRCm39)	missense	possibly damaging	0.95
R6860:Prrt4	UTSW	6	29,170,737 (GRCm39)	missense	possibly damaging	0.90
R6984:Prrt4	UTSW	6	29,171,429 (GRCm39)	missense	probably benign	0.18
R7032:Prrt4	UTSW	6	29,170,538 (GRCm39)	missense	possibly damaging	0.93
R7033:Prrt4	UTSW	6	29,171,147 (GRCm39)	missense	possibly damaging	0.89
R7444:Prrt4	UTSW	6	29,176,516 (GRCm39)	missense	probably benign
R7689:Prrt4	UTSW	6	29,177,140 (GRCm39)	missense	probably damaging	0.97
R7711:Prrt4	UTSW	6	29,177,455 (GRCm39)	missense	probably benign	0.00
R7735:Prrt4	UTSW	6	29,170,035 (GRCm39)	missense	possibly damaging	0.90
R7748:Prrt4	UTSW	6	29,177,190 (GRCm39)	missense	probably damaging	1.00
R7778:Prrt4	UTSW	6	29,177,718 (GRCm39)	missense	probably damaging	1.00
R7850:Prrt4	UTSW	6	29,176,900 (GRCm39)	critical splice donor site	probably null
R7880:Prrt4	UTSW	6	29,170,155 (GRCm39)	missense	probably benign
R8835:Prrt4	UTSW	6	29,169,986 (GRCm39)	missense	probably damaging	0.97
R8948:Prrt4	UTSW	6	29,177,665 (GRCm39)	missense	probably damaging	0.98
R8950:Prrt4	UTSW	6	29,177,665 (GRCm39)	missense	probably damaging	0.98
R9044:Prrt4	UTSW	6	29,171,540 (GRCm39)	missense	probably benign	0.02
R9214:Prrt4	UTSW	6	29,170,767 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- GTCTCGGTGACAGGATTTCC -3'
(R):5'- TTTAGGCAGAACACGTTGCCTG -3'

Sequencing Primer
(F):5'- GTGACAGGATTTCCCCAGACAG -3'
(R):5'- GCAGAACACGTTGCCTGTGTTC -3'

Posted On

2019-11-26